Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders

Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Help Center Sign In Submit a Preprint Cite Share Download PDF Article Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders Ebony Richardson, Alison McEwen, Toby Newton-John, Chris Jacobs This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-2399263/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Understanding the benefits of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. The assessment of outcomes is an important part of demonstrating these benefits. There is no current consensus about which outcomes are appropriate for the evaluation of genetic health interventions, including genetic testing and genetic counselling. The Core Outcome DEvelopment for Carrier Screening study has addressed this lack of guidance by undertaking a systematic approach to understanding the outcomes that can meaningfully capture the benefits of reproductive genetic carrier screening (RGCS). Herein, we report on a consensus process to determine the degree of consensus among Australian and New Zealand stakeholders regarding the core outcomes of RGCS. An iterative, two-round online Delphi survey was conducted. Panellists ranked 83 outcomes according to their perceived importance on a nine-point Likert scale. Using the distribution of rankings, outcomes were grouped into tiers representative of their perceived level of importance and agreement between groups. The top tier outcomes were agreed to be critically important for all future studies and were used to define a preliminary core outcome set encompassing the domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use and (4) perceived utility of RGCS. These findings will help to guide the selection of meaningful outcomes in studies aiming to evaluate the value of RGCS. A future international consensus process will expand on these findings and guide the inclusion of diverse perspectives across the range of settings in which RGCS is offered. Health sciences/Medical research/Genetics research Health sciences/Health care/Health services/Genetic services/Genetic testing Health sciences/Health care/Health services/Genetic services/Genetic counselling Reproductive genetic carrier screening core outcome set genetic counselling genetic screening Delphi survey Figures Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Introduction Demonstration of the benefits of genetic health interventions, including genetic counselling and genetic testing, is needed to inform best practice, guide policy and funding, and ensure responsible implementation in patient care. The assessment of outcomes that can accurately capture the impact is an important component of demonstrating these benefits. 1 , 2 A range of outcomes have been reported across the literature, but there is limited evidence to identify which outcomes are the most appropriate to assess. Recent systematic approaches have attempted to understand the outcomes of genetic counselling 3 – 6 and genetic services 7 , 8 at a broad scale. However, applying this knowledge to the evaluation of a specific genetic health intervention remains challenging. This study focused on the outcomes of reproductive genetic carrier screening (RGCS) as a model for how a systematic process of defining and prioritising outcomes on a specific topic, known as a core outcome development study, can lead to clarification of outcomes of importance and guide future research. RGCS identifies individuals and couples with an increased risk of having a child affected by a recessive or X-linked condition. Prospective parents can use this information to inform their reproductive decision-making. RGCS has been offered since the 1970s in groups with a high prevalence of specific genetic conditions, such as Tay-Sachs disease in Ashkenazi Jewish communities and thalassaemia in communities of Mediterranean descent. 9 – 11 Practice recommendations initially endorsed the targeted offer of RGCS in such populations with prior indications. However, with the expansion of genomic testing capabilities and increasing recognition of the limitations of ethnicity-based risk estimation, professional organisations now support the offer of RGCS to all women planning a pregnancy or in their first trimester. 12 – 14 As RGCS moves from a targeted offer in increased risk groups, to a population-based screening program available broadly to the general population, an understanding of the benefits and potential harms is crucial to ensuring responsible implementation. 15 The Core Outcome DEvelopment for Carrier Screening (CODECS) study aims to define a set of core outcomes that have been identified through a rigorous review of current knowledge and in consultation with key stakeholders. 16 The goal of a core outcome set (COS) is to ensure that outcomes being assessed in research can meaningfully capture the impact of RGCS, which will increase the likelihood that they can directly inform practice and policy. 16 In a systematic review of quantitative studies reporting RGCS we identified a high degree of outcome heterogeneity, which illustrated the difficulty identifying which outcomes are most informative and appropriate to assess in studies of RGCS. 17 We also found that few studies have incorporated patient-reported outcome measures and no evidence of patient involvement in deciding which outcomes are relevant, which has led to a limited representation of the patient perspective. A sequential review of the qualitative literature highlighted the important patient-led outcomes that have not been incorporated into quantitative evaluations of RGCS to date and identified gaps in knowledge about the benefits and potential adverse impacts. 18 Consultations with patient stakeholders further re-iterated the importance of these patient-led outcomes as a focus for future research. 19 A consensus process through which all collated outcomes from previous steps are reviewed, refined and prioritised by key stakeholders is the culmination of a core outcome development study. The goal of this process is to determine which outcomes are the most important to define as core outcomes that should be reported in all future studies on RGCS. This consensus process typically includes a Delphi survey and consensus meeting that includes all relevant groups and stakeholders that would be impacted by the definition of a core outcome set. Herein, we report a Delphi survey of Australian and New Zealand (AUS/NZ) stakeholders as a first step in a consensus process to define a COS for RGCS. The aim of this Delphi survey was to determine the degree of consensus among AUS/NZ stakeholders on the core outcomes of RGCS and to identify any further outcomes for inclusion in future steps of the consensus process. Materials And Methods Study design The Delphi process is a validated method for achieving consensus across a range of settings. In studies aiming to develop a COS, the Delphi process is used to refine and prioritise the ‘long list’ of outcomes collected from previous steps, such as systematic reviews and stakeholder consultations. 20 We designed an iterative online two-round Delphi survey to be completed by participants with experience with or expertise in RGCS. This study is reported per recommendations from the Core Outcome Measures in Effectiveness Trials (COMET) initiative. 21 Ethics approval was granted by the University of Technology Sydney Ethics Committee (UTS HREC ETH20-5179). Participant selection An expert panel of AUS/NZ participants was convened. Participants belonged to two groups: patient experts who had undertaken RGCS and health professionals with roles encompassing offering RGCS as part of a clinical service conducting research on RGCS or contributing to policy and practice recommendations. Participants were selected purposively based on their experience of RGCS across AUS/NZ. Patient participants were identified from previous stakeholder consultations in which co-design methods were used to elicit outcomes of importance to patients and had provided consent to be approached for the Delphi survey. 19 Health professional participants were identified by the first and last authors of publications included in our sequential systematic review 17 , 18 , listed committee members from key policy and practice recommendations, and through professional networks within AUS/NZ. Sample size Guidance about what constitutes a sufficient number of Delphi survey participants is not currently available, and there is wide variability in panel sizes across core outcome development studies. 22 , 23 Smaller panels have been shown to produce reliable results when composed of experts with similar experiences who are immersed in the research topic. Therefore, the goal was to convene a panel of 12 experts with a common experience and understanding of RGCS as currently offered in AUS/NZ. 22,24 Recruitment All participants were approached via email, provided with brief information about the purpose of the Delphi survey and prompted to respond to the invitation if they were interested in participating. Health professionals were asked to suggest alternative participants if they were unable to participate themselves. The survey was anonymised and participants were unaware of the identity of other participants. Invitees were informed that participation was voluntary and would involve completing 2–3 surveys over a 6-month period, each expected to take about 30 minutes. The importance of committing to the full consensus process was conveyed to invitees. Prior knowledge Four patient participants had previously participated in stakeholder consultations using co-design methods to elicit outcomes of importance to patients undertaking RGCS, one was not eligible for the stakeholder consultations as they had not received their RGCS results at the time of recruitment but had expressed interest in participating in the Delphi survey once eligible, and one was a patient representative involved in the CODECS study advisory group. Patient participants were therefore familiar with the concept of outcomes and were able to recall the outcomes discussed during their previous interactions with this study. All health professional participants were actively involved in practice, research and/or policy on RGCS and may have been aware of previously published work, including a systematic review 17 , 18 that had been published at the time of the Delphi survey. Compiling outcomes All outcomes collected from the systematic review process 17 , 18 and qualitative interviews with patient stakeholders 19 were collated into a block diagram. The combined list comprised 175 outcomes across 25 CODECS outcome domains. Each outcome domain was reviewed by ER and the Study Management Group (SMG: CJ, AM, TNJ) to determine which outcomes warranted inclusion in the Delphi process. Exclusion from the Delphi process was based on the relevance to the scope of the COS. Outcomes that were highly specific to a particular group or not widely applicable to pan-ethnic carrier screening in a population-based context were considered for exclusion. Similar or overlapping outcomes were combined where appropriate. Following review, 83 outcomes across 21 domains were included in Round 1 (Fig. 13). Piloting Delphi questions The survey was piloted with two patient representatives and two health professional representatives. Participants were asked to comment on the phrasing of each outcome, clarity of the instructions, and the appropriateness of the questions for both patient and health professionals. Each question was structured according to the overarching outcome domain, meaning that Round 1 consisted of 21 questions, with multiple outcomes to rate within each. Comments provided during piloting were used to make minor changes to the wording before the outcomes were finalised. Data collection Data were collected using the Qualtrics platform. 25 Participants were sent reminders when 2 weeks, 1 week and 1 day were remaining to complete the survey for both rounds. Round 1 The Round 1 survey was available to participants for 4 weeks (Jan-Feb 2022). Participants rated the importance of 83 outcomes using a nine-point Likert scale. Rankings 1–3 indicated “limited importance”, 4–6 indicated “important but not critical” and 7–9 indicated “critical importance”, in accordance with the Grading of Recommendations Assessment, Development and Evaluation (GRADE) process. 26 A free text box was provided for participants to suggest new outcomes, and separate free text boxes were available for participants to record their general comments about each outcome. Distributions of Round 1 rankings were plotted graphically and reviewed with a statistician to determine the appropriate thresholds for inclusion in Round 2, as reported below. Round 2 Round 2 was opened 3 weeks after Round 1 closed and was available to participants for 6 weeks (March-April 2022). Participants were shown their own rankings from Round 1 for each outcome, and the mean, median and range of rankings per group. Instructions on how to approach the re-ranking of outcomes and clarifications of certain outcomes were provided. De-identified comments from Round 1 were shown where relevant. Participants were asked to re-rank items on the same nine-point Likert scale. Distributions of Round 2 rankings were plotted graphically and grouped by the degree of consensus regarding the importance of each outcome. The SMG discussed the results following Round 2 and determined that a third round was unlikely to provide additional insights and would be overly onerous on participants; therefore, the Round 2 rankings were used to establish tiers of consensus to inform a preliminary COS. 6.4.6 Data analysis Defining thresholds for inclusion/exclusion A range of consensus definitions are used across the Delphi literature. 23 Previously defined thresholds from our published protocol 16 were not applicable because of significant differences in the sample sizes between the planned international Delphi survey and this smaller survey of AUS/NZ stakeholders. When determining an alternative appropriate threshold for use in this Delphi survey, we elected to apply the approach defined by the Standardised Outcomes in Nephrology (SONG) initiative, which uses the mean and median ratings of each outcome in context with the overall distribution of rankings to determine appropriate cut-offs for inclusion or exclusion in subsequent rounds. 27 This approach suggested a baseline threshold for inclusion in Round 2 if the outcome had a mean and median of > 7, with the caveat that this threshold may need to be adjusted depending on the distribution of rankings. At the conclusion of Round 1, the distribution of rankings was analysed by ER and reviewed by a statistician to determine the appropriate thresholds for inclusion in Round 2. Outcomes with a mean ≥ 6.5 and median ≥ 7 from either participant group and ≥ 4 in the other group were included in Round 2. Setting the mean threshold at 6.5 was a pragmatic decision based on the appropriateness of decimal values when calculating the mean, as opposed to the median which was restricted to absolute numbers based on the nine-point Likert scale used. The mean, median and proportion of participants who rated each outcome 7–9 (critically important) were calculated separately for patients and health professionals. Outcome decisions (include/exclude) and any changes to the proposed outcomes for Round 2 were reviewed with the SMG for approval. The sample size was too small to conduct subgroup analysis to identify statistical differences between groups. Defining consensus on the critical importance of outcomes Consensus on outcomes considered to be of critical importance was defined as outcomes with mean and median rankings ≥ 8 in either group and a percentage of stakeholders rating the outcome as ‘critically important’ >70%. Any outcomes that reached this threshold in Round 1 were considered to have reached consensus regarding their critical importance and were not included in Round 2. Changes to outcomes following Round 1 Based on participant feedback in Round 1, some outcomes were reviewed for re-wording or to be combined into new outcomes. ER prepared all outcomes that reached the threshold for inclusion in Round 2 and presented these to the SMG for agreement. Quantitative analysis The mean, median and proportion of participants who rated the outcome as critically important (7 to 9) were calculated for each outcome in both rounds. Data were analysed for patient and health professional groups separately. The overall distribution of rankings from both groups was plotted graphically. Outcomes with similar rankings were grouped into tiers representing the degree of consensus and importance attributed to each outcome. Outcomes that reached consensus as being critically important were used to define a preliminary core outcome following Round 2. Results Participant characteristics A summary of the participants is provided in Table 7. Round 1 was completed by all 12 participants, seven from Australia and five from New Zealand. Equal representation was obtained between patient and health professional groups. Four patient participants had low risk results from RGCS (two individuals and one reproductive couple), one was identified as a carrier following a fetal loss due to an X-linked condition and undertook RGCS to exclude other genetic conditions, and one was part of a carrier couple identified through preconception screening. Health professional participants included genetic counsellors, clinical geneticists, researchers, policy-makers and genetic pathologists; the expertise of many health professional participants overlapped between multiple areas. Round 2 was completed by 10 participants (retention 83%). Distribution of rankings from Round 1 and inclusion in Round 2 The outcomes included and excluded from Round 2 are summarised in Fig. 14. The mean and median rankings per group for each outcome are shown in Table 8. Only one outcome reached consensus as being critically important to include in all future studies of RGCS after Round 1: “Reproductive decisions made by patients post-test and long term”. Thirty-six outcomes were agreed as not being critically important to include in a COS, as indicated by mean and median scores below the defined thresholds in both groups and were excluded from Round 2. The remaining 46 outcomes and associated comments from participants were reviewed by ER. Twenty-two of the eligible outcomes were combined and re-worded into eight new outcomes for Round 2. No new outcomes were suggested by participants. The full outcome details are available in the supplementary material. The distributions of rankings for each outcome are shown in Fig. 15. Distribution of Round 2 rankings and definition of tiers of consensus The mean and median rankings per group for each outcome in Round 2 are shown in Table 9. All outcomes in Round 2 were ranked either “important but not critical” or “critically important” by one or both groups of participants. The distributions of rankings are shown in Fig. 16. Based on the results following Round 2, the decision was made to not progress to a third round of the Delphi survey because this would have been unnecessarily onerous on participants and was unlikely to yield additional helpful insights. The distribution of rankings following Round 2 was used to define tiers representing the degree of consensus regarding the importance of each outcome. Tier 1 outcomes and definition of a preliminary COS Tier 1 outcomes were those that reached consensus as being of critical importance to include in all future studies. These outcomes were in the CODECS outcome domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use, and (4) perceived utility. Within these domains, the prioritised outcomes were (1.1) carrier and couple detection rates, (2.1) uptake of prenatal diagnosis, (2.2) decision to continue or terminate an affected pregnancy, (3.1) uptake of partner testing, (3.2) uptake of post-test genetic counselling, (4.1) reproductive decisions made by patients post-test and long term, (4.2) reproductive empowerment, and (4.3) affected individuals born to patients who accessed RGCS. A preliminary COS based on these outcomes, including the full outcome description, is shown in Fig. 17. Lower tiers of consensus A list of all outcomes per tier is available in the supplementary material. Tier 2 Five outcomes were grouped in Tier 2 based on their rankings that reflected general agreement across stakeholders of critically importance but failed to reach the consensus threshold. Tier 3 Nine outcomes were grouped in Tier 3 based on their rankings where one participant group considered them critically important and the other important but not critical. Tier 4 Nine outcomes were grouped in Tier 4 based on their rankings that demonstrated consensus between groups that they are important but not critical for all future studies to report. The ranking of importance for these outcomes decreased between Round 1 and Round 2. Thirty-six outcomes from Round 1 that were excluded from Round 2 were also included in this tier. These outcomes may represent outcomes that are not considered ‘core’ with regard to being relevant to all studies of RGCS but have recognised importance for providing information about key aspects of the RGCS process. Such outcomes are appropriate to assess to create an evidence base to address specific research questions but are unlikely to need to be continually assessed once this evidence based is established. Outcomes with no agreement One outcome “rate of fetal loss following prenatal diagnosis (CVS or amniocentesis)” was discordant between groups. Comments collected from participants elucidated the reason for the lack of agreement between groups. Health professional participants, who were aware of the literature on this topic from the broader obstetric field, did not feel that this was a direct outcome of RGCS but rather of the prenatal diagnostic procedure, and that sufficient data were available regarding rates of fetal loss. Without this broader context, patients understandably considered this a critical outcome. Discussion Outcomes are the means by which we evaluate the impact and effectiveness of health interventions. The choice of outcomes directly impacts the quality of the evidence available for such evaluations and whether evidence to inform practice and policy is available. The ad hoc definition of outcomes in individual studies is a common theme across the medical literature but leads to questions about why outcomes were chosen, their relevance to all key stakeholders, issues with selection or reporting bias and difficulty comparing outcomes across studies. 28 This study demonstrates the process of systematically defining core outcomes of importance to key stakeholders in RGCS, including patients/prospective parents accessing RGCS, genetic health professionals, researchers and policy-makers. Consistent reporting of primary laboratory outcomes allows for comparison between studies and provides empirical evidence to guide best practice. Different schools of thought favour (1) couple-based screening, which reports only reproductive risk as a couple or (2) sequential screening, which screens one partner first (typically the female partner) followed by the other partner only if the first partner is reported to be a carrier. The couple-based approach has two benefits. First, it minimises the cost and resources for partner testing and follow-up 29 , 30 . Secondly, it reduces the chance of the couple misunderstanding their reproductive risks (and potential subsequent anxiety). 31 Issues around the couple-based approach include the inability of individual carriers to inform their at-risk relatives of their carrier status and the need for repeat testing if individuals re-partner. 32 To illustrate how these potential benefits and issues impact stakeholders, we recommend that future research assessing couple-based RGCS report the number of couples identified as increased risk following screening. Studies offering sequential RGCS should report the number of individual carriers and the number of couples at increased risk. Researchers should also consider the associated outcome domain ‘Resource use’ to report the uptake of partner testing. Partner testing is an important outcome to understand whether offering RGCS sequentially is an access barrier for couples because of the additional time and effort required to present for screening twice. Both couple-based and sequential study types should orient primary laboratory outcomes within their dataset as a percentage of total individuals or couples screened. The participants in this study considered pregnancy outcomes to be critically important for studies offering RGCS prenatally to report. Although RGCS is ideally offered preconception, for practical reasons a large percentage of patients continue to access RGCS prenatally and practice recommendations support its offer to all women during their first trimester of pregnancy. 33 There are additional challenges for RGCS in the prenatal setting, including the limited time for decision-making, fewer reproductive decisions available to couples and complexities in ensuring appropriate genetic counselling to differentiate RGCS from other prenatal tests 34 . We recommend that studies report whether increased risk couples elect to proceed with invasive prenatal testing and (where relevant) the decision to continue or terminate their pregnancy. These are foundational outcomes to capture the experience of couples accessing RGCS prenatally. Consistent reporting of these outcomes across all studies will improve the understanding of couples’ decision-making and allow for comparisons of decision-making in couples accessing RGCS preconception. These outcomes will help to guide how RGCS is offered in the future and whether additional support is needed for patients accessing RGCS in the prenatal period. Resource use is a crucial element of scaling RGCS to a population screening offer. The current resource limitations in the genetics workforce are a key element of scaling. A lack of appropriately trained genetic health professionals necessitates the use of non-genetics health professionals as alternative providers to offer RGCS to free up the specialised genetic workforce to manage only increased risk or complex cases. 35 A recent systematic review of the barriers to enablers of the implementation of RGCS identified several barriers centred around the availability of support from a genetic counsellor to non-genetics health professionals. 36 Studies highlighted a mismatch between the resource-intensive and specialised nature of genetic counselling for RCGS in the face of a limited genetic counselling workforce. 37 – 40 One study found that a median of 64 minutes was required for post-test genetic counselling. 29 Although many outcomes related to resource use were considered during this Delphi survey, participants prioritised the uptake of post-test genetic counselling as a critically important outcome. This outcome reflected the desire to understand the resources required to manage RGCS results when offered through non-genetics health professionals. We recommend that studies offering RGCS through non-genetics health professionals report the uptake of post-test genetic counselling with a genetics health professional (genetic counsellor or clinical geneticist). As RGCS becomes increasingly available, this outcome is critical to understand workforce requirements and to build evidence for increased resource allocation. The goals of RGCS are innately intertwined with the assessment of utility. Goals describe the intended benefits of RGCS, whereas utility represents the practical assessment of such benefits through the measurement of outcomes. The goals and utility of RGSC are conceptualised in various ways in the literature, and there is no consensus on the most appropriate outcomes to assess to capture the impact at this overarching level. Approaches have evolved over time; early RGCS screening programs measured utility based on the prevention of genetic conditions and reduction in disease incidence. 11 , 41 , 42 However, recent discussions have questioned the ethical appropriateness of such an outcome in the context of general population screening and expanded panels. 43 From a bioethical perspective, reducing disability or disease incidence is problematic and is not recommended as a primary goal of RGCS 44 , although it is recognised that this could be considered an important aspect by individual participants in RGCS if their motivations and values reflect a desire to reduce the suffering associated with the unexpected birth of a child with a severe genetic condition. The prioritisation of the outcome ‘affected births’ in the preliminary COS reported here may reflect the values of the stakeholder participants, and it will be important to consider the appropriateness of including this outcome in a final COS following international consultation with a larger cohort of stakeholders. The goal to facilitate reproductive autonomy and to enable informed reproductive decision-making is currently favoured 45 , 46 ; however, it remains unclear how to assess the utility of RGCS for reproductive decision-making. A common suggestion is to measure reproductive decisions based on RGCS results, which are often used as a proxy to reflect informed reproductive decisions. However, an ‘informed’ decision cannot be captured by a simple metric of behaviour. Rather, this needs to be considered from the patient perspective. Previous work highlights patient perceptions that reproductive empowerment most accurately captures the utility of RGCS. 18 , 19 Empowerment considers behaviour in the wider context of cognitive capacity, knowledge and emotional state. 7 Building on these patient-derived findings, the participants in the study reported here perceived utility as a multifaceted concept requiring the assessment of multiple relevant outcomes encompassing broad societal impact (disease incidence or number of affected births), specific actions (reproductive decisions made by increased risk couples) and the patient perspective (feeling empowered to make reproductive decisions that align with patient values). A definition of utility that is aligned with the evolving goals of RGCS as a population screening program will be a continued focus of the CODECS study in the next stages of the consensus process to define a final COS. Limitations This Delphi survey was limited to Australian and New Zealand participants, and does not represent international perspectives that may deviate from this context. Not all relevant stakeholder groups could be recruited for this Delphi survey because resource limitations hindered the inclusion of non-genetics health professionals such as general practitioners, midwives, and obstetrician gynaecologists who may offer RGCS. The perspectives of these practitioners will be a valuable addition to a future international consensus process. In regard to the conduct of the survey itself, the size of the Round 1 survey was onerous and may have led to fatigue in participants. In addition, the questions were not randomised because a logical approach was favoured give the size of the survey; this may have contributed disproportionately to survey fatigue in the later items/domains, although we note that this was not overtly apparent. Conclusion The outcomes reported herein reflect the perspective of AUS/NZ stakeholders regarding the core outcomes of RGCS that should be reported by all futures studies on this topic. In its current form, this preliminary COS can be used as a guide for future research that wishes to incorporate evidence-based outcomes that can capture the benefits of RGCS, be used as a guide for auditing current RGCS offers and be used as a framework for systematic reviews to evaluate gaps in core evidence on this topic. A future international consensus process is needed to develop these outcomes further and to define a final COS that will be relevant to the diverse settings that RGCS is offered in worldwide. The core outcomes are not intended to represent all outcomes of importance to consider in studies of RGCS but represent a minimum that should be assessed and reported. Studies should continue to include other outcomes of relevance to their research question and context, and should be guided by recent publications that have highlighted important patient-led outcomes of RGCS. 18 , 19 Declarations CONFLICT OF INTEREST NOTIFICATION PAGE No conflicts to disclose FUNDING This study is supported by the University of Technology Sydney and Graduate School of Health in the form of the Australian Research Training Program Fee Waiver Scholarship and Research Excellence Scholarship. DATA AVAILABILITY Data generated as part of this study are available from the corresponding author on reasonable request. ACKNOWLEDGEMENTS This study is supported by the University of Technology Sydney and Graduate School of Health in the form of the Australian Research Training Program Fee Waiver Scholarship and Research Excellence Scholarship. The authors thank Professor Edwin Kirk, Dr Alison Archibald, Dr Belinda McClaren, Ms Lucinda Freeman, and Ms Erin Macaulay, in additional to the remaining Delphi panel participants who have elected to remain anonymous, for their time and efforts in participating in this Delphi survey. They would also thank Dr Kris Rogers for statistical advice relating to the analysis of results. AUTHOR INFORMATION Affiliations: Graduate School of Health, University of Technology Sydney, Building 20, 100 Broadway, Chippendale, NSW 2008, Sydney, Australia Corresponding Author: Ebony Joanne Richardson, Graduate School of Health, University of Technology Sydney, Building 20, 100 Broadway, Chippendale, NSW 2008, Sydney, Australia, Phone: +61432639308, Email: [email protected] ETHICS DECLARATION This study received ethics approval from The University of Technology Sydney Ethics Committee (UTS HREC ETH20-5179). The authors declare no conflicts of interest. DESCRIPTION OF SUPPLEMENTAL DATA Supplementary material 1 – Outcomes excluded from Round 2 Supplementary material 2 – Outcomes eligible for inclusion in Round 2 Supplementary material 3 – Outcomes combined for Round 2 Supplementary material 4 – List of outcomes per tier following Round 2 References Hayford T, Maeda JL. Issues and challenges in measuring and improving the quality of health care . Congressional Budget Office Washington, DC; 2017. McAllister M, Moldovan R, Paneque M, Skirton H. The need to develop an evidence base for genetic counselling in europe. Eur J Hum Genet . 2016;24(4):504-505. doi:https://doi.org/10.1038/ejhg.2015.134 Payne K, Nicholls SG, McAllister M, et al. Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients’ views. Health Policy . 2007;84(1):112-122. doi:https://doi.org/10.1016/j.healthpol.2007.03.005 Redlinger‐Grosse K, MacFarlane IM, Cragun D, Zierhut H. A Delphi study to prioritize genetic counseling outcomes: What matters most. J Genet Counsel . 2021;30(3):676-692. doi:https://doi.org/10.1002/jgc4.1352 Redlinger‐Grosse K, Veach PM, Cohen S, LeRoy BS, MacFarlane IM, Zierhut H. Defining our clinical practice: The identification of genetic counseling outcomes utilizing the reciprocal engagement model. J Genet Counsel . 2016;25(2):239-257. doi:https://doi.org/10.1007/s10897-015-9864-2 Zierhut HA, Shannon K, Cragun D, Cohen S. Elucidating genetic counseling outcomes from the perspective of genetic counselors. J Genet Counsel . 2016;25(5):993-1001. doi:https://doi.org/10.1007/s10897-015-9930-9 McAllister M, Dunn G, Todd C. Empowerment: Qualitative underpinning of a new clinical genetics-specific patient-reported outcome. Eur J Hum Genet . 2011;19(2):125-130. doi:https://doi.org/10.1038/ejhg.2010.160 Payne K, Nicholls S, McAllister M, MacLeod R, Donnai D, Davies L. Outcome measurement in clinical genetics services: A systematic review of validated measures. Value Health . 2008;11(3):497-508. doi:https://doi.org/10.1111/j.1524-4733.2007.00259.x Kaback MM, Nathan TJ, Greenwald S. Tay-Sachs disease: Heterozygote screening and prenatal diagnosis - US experience and world perspective. Prog Clin Biol Res . 1977;18:13-36. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr . 2000;159(3):S192-S195. doi:https://doi.org/10.1007/pl00014401 Cao A, Rosatelli MC, Monni G, Galanello R. Screening for thalassemia: a model of success. Obstet Gynecol Clin . 2002;29(2):305-328. doi:https://doi.org/10.1016/s0889-8545(01)00006-7 ACOG Committee on Genetics. Committee opinion no. 691: Carrier screening for genetic conditions. Obstet Gynecol . 2017;129(3):e41-e55. doi:https://doi.org/10.1097/AOG.0000000000001952 RANZCOG Genomics Advisory Working Group & Women’s Health Committee. Genetic carrier screening. 2019. Available from http://ranzcog.edu.au/resources/statements-and-guidelines-directory/; Wilson R, De Bie I, Armour C, et al. Joint SOGC-CCMG opinion for reproductive genetic carrier screening: An update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing. Journal of Obstetrics and Gynaecology Canada . 2016;38(8):742-762 e3. doi:https://doi.org/10.1016/j.jogc.2016.06.008 Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet . Jun 2016;24(6):e1-e12. doi:10.1038/ejhg.2015.271 Richardson E, McEwen A, Newton-John T, Manera K, Jacobs C. The Core Outcome DEvelopment for Carrier Screening (CODECS) study: Protocol for development of a core outcome set. Trials . 2021;22(1):480. doi:https://doi.org/10.1186/s13063-021-05439-7 Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set. Genet Med . 2021;24(1):1-14. doi:https://doi.org/10.1016/j.gim.2021.08.005 Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: A sequential systematic review. Eur J Hum Genet . Mar 28 2022;30(7):756-765. doi:https://doi.org/10.1038/s41431-022-01090-1 Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Outcomes of importance to patients in reproductive genetic carrier screening: A qualitative study to inform a core outcome set. J Pers Med . 2022;12(8):1310. doi:https://doi.org/10.3390/jpm12081310 Williamson P, Altman D, Bagley H, et al. The COMET handbook: Version 1.0. Trials . 2017;18(3):1-50. doi:https://doi.org/10.1186/s13063-017-1978-4 Sinha IP, Smyth RL, Williamson PR. Using the Delphi technique to determine which outcomes to measure in clinical trials: recommendations for the future based on a systematic review of existing studies. PLoS Med . 2011;8(1):e1000393. doi:https://doi.org/10.1371/journal.pmed.1000393 Akins RB, Tolson H, Cole BR. Stability of response characteristics of a Delphi panel: application of bootstrap data expansion. BMC Med Res Methodol . 2005;5(1):1-12. doi:https://doi.org/10.1186/1471-2288-5-37 Niederberger M, Spranger J. Delphi technique in health sciences: a map. Frontiers in public health . 2020:457. Waggoner J, Carline JD, Durning SJ. Is there a consensus on consensus methodology? Descriptions and recommendations for future consensus research. Acad Med . 2016;91(5):663-668. doi:https://doi.org/10.1097/ACM.0000000000001092 Qualtrics software (Version April 2022). Provo, UT, USA. https://www.qualtrics.com Schunemann H. GRADE handbook for grading quality of evidence and strength of recommendation. Version 3.2 . 2008. Available from http://www.cc-ims.net/gradepro/. Standardised Outcome in Nephrology (SONG) Initiative. The SONG Handbook for Establishing and Implementing Core Outcomes in Clinical Trials Across the Spectrum of Chronic Kidney Disease . Version 1.0. 2017. Available from: https://songinitiative.org/reports-and-publications/. Williamson P, Altman D, Blazeby J, et al. Developing core outcome sets for clinical trials: Issues to consider. Trials . 2012;13(1):1-8. doi:https://doi.org/10.1186/1745-6215-13-132 Lynch FL, Himes P, Gilmore MJ, et al. Time costs for genetic counseling in preconception carrier screening with genome sequencing. J Genet Counsel . 2018;27(4):823-833. doi:https://doi.org/10.1007/s10897-017-0205-5 Delatycki MB, Laing N, Kirk E. Expanded reproductive carrier screening—how can we do the most good and cause the least harm? Eur J Hum Genet . 2019;27(5):669-670. doi:https://doi.org/10.1038/s41431-019-0356-y Beard CA, Amor DJ, Di Pietro L, Archibald AD. "I'm healthy, it's not going to be me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia. Am J Med Genet A . 2016;170(8):2052-9. doi:https://doi.org/10.1002/ajmg.a.37697 Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med . 2001;3(2):149-154. doi:https://doi.org/10.1097/00125817-200103000-00010 Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med . 2018;20(5):513-523. doi:https://doi.org/10.1038/gim.2017.134 Rothwell E, Johnson E, Mathiesen A, et al. Experiences among women with positive prenatal expanded carrier screening results. J Genet Couns . 2017;26(4):690-696. doi:https://doi.org/10.1007/s10897-016-0037-8 Schuurmans J, Birnie E, van den Heuvel L, et al. Feasibility of couple-based expanded carrier screening offered by general practitioners. Eur J Hum Genet . 2019;27(5):691-700. doi:https://doi.org/10.1038/s41431-019-0351-3 Best S, Long J, Theodorou T, et al. Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review. Prenat Diagn . 2021;41(6):708-719. doi:https://doi.org/10.1002/pd.5914 Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT. Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol . 2005;105(6):1355-1361. doi:https://doi.org/10.1097/01.AOG.0000163251.54416.a6 Janssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P. Pre-and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views. BMC Med Ethics . 2017;18(1):1-10. doi:https://doi.org/10.1186/s12910-017-0206-9 Benn P, Chapman AR, Erickson K, et al. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenat Diagn . 2014;34(2):145-152. doi:https://doi.org/10.1002/pd.4272 Poppelaars FA, Adèr HJ, Cornel MC, et al. Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. J Genet Counsel . 2004;13(1):31-44. doi:https://doi.org/10.1023/b:jogc.0000013193.80539.d1 Kaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test . 1998;2(4):271-292. doi:https://doi.org/10.1089/gte.1998.2.271 Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ. Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. Med J Aust . 2012;197(11-12):652-654. doi:https://doi.org/10.5694/mja12.11010 Dive L, Newson AJ. Ethical issues in reproductive genetic carrier screening. Med J Aust . 2021;214(4):165-167. doi:https://doi.org/10.5694/mja2.50789 Dive L, Newson A. Ethics of reproductive genetic carrier screening: From the clinic to the population. Public Health Ethics . 2021;14(2):202-217. doi:https://doi.org/10.1093/phe/phab017 De Wert GM, Dondorp WJ, Knoppers BM. Preconception care and genetic risk: ethical issues. J Community Genet . 2012;3(3):221-228. doi:https://doi.org/10.1007/s12687-011-0074-9 Holtkamp KC, Mathijssen IB, Lakeman P, et al. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. Eur J Public Health . 2017;27(2):372-377. doi:https://doi.org/10.1093/eurpub/ckw110 Tables Table 1: Characteristics of Delphi survey participants Descriptor Number of Participants Gender (n=12) Female 10 (83%) Male 2 (17%) Country (n=12) Australia (AUS) 7 (58%) New Zealand (NZ) 5 (42%) Areas of expertise (n=18*) Patient who has accessed RGCS 7 (39%) Genetic health professional (genetic counsellor or clinical geneticist) 5 (28%) Researcher currently or previously involved in research on RGCS 3 (17%) Policy-maker 2 (11%) Genetic pathologist 1 (0.6%) *Some participants had multiple areas of expertise Table 2: Round 1 rankings CODECS Outcome Domains and Outcome Descriptions Patients Health Professionals Mean Median Mean Median Domain 1 - Primary laboratory outcomes Carrier detection rate a 7.0 7 6.6 7 Identification of increased risk couples 5.3 6 8.3 9 Domain 2 - Secondary and incidental laboratory outcomes Identification of results that indicate the prospective parent undertaking RGCS is at increased risk of or affected by one of the conditions screened 6.8 8 7.2 8 Identification of variants where the association with disease risk is unclear 6.3 7 3.2 3 Domain 3 - Technical laboratory outcomes Laboratory errors leading to the incorrect interpretation of results 7.7 8 5.8 6 Test failure and requests for replacement samples 6.7 7 6.3 7 Domain 4 - Uptake of services Number of RGCS tests conducted 7.0 8 7.5 8 Uptake of RGCS 6.2 7 6.5 7 Decline of RGCS 5.2 4 5.7 6 Barriers and facilitators to access and uptake of RGCS 6.5 8 6.8 8 Domain 5 - Genetic counselling resource use Uptake of pre-test genetic counselling a 4.0 4 5.3 6 Time required for pre-test genetic counselling 4.2 4 5.3 6 Uptake of post-test genetic counselling for increased risk couples a 5.5 6 8.0 8 Mode of genetic counselling (e.g. face-to-face, telehealth) 3.8 4 5.7 6 Domain 6 - Further testing and reproductive decision-making Uptake of partner testing a 7.0 8 7.3 8 Barriers and facilitators to access and uptake of partner testing a 7.2 8 7.3 8 Uptake of prenatal diagnosis b 6.8 7 8.2 9 Barriers and facilitators to access and uptake of prenatal diagnosis 7.3 8 7.5 9 Reproductive decisions following an increased risk result 8.3 8 8.3 9 Barriers and facilitators of patient uptake of IVF/PGD in increased risk couples 7.8 8 7.5 9 Barriers and facilitators influencing patient experience of PND, IVF/PGD and TOP 7.2 8 7.5 9 Support needs when making reproductive decisions 6.0 5 7.5 8 Domain 7 - Pregnancy outcomes Results of PND (CVS or amniocentesis) b 7.3 8 7.0 7 Rate of fetal loss following PND b 7.7 9 4.2 4 Decision to continue or terminate a pregnancy identified as affected through PND b 8.0 8 6.8 8 Birth rates for conditions that were included in screening 8.3 9 6.3 7 Results of IVF/PGD utilised by increased risk couples 7.8 9 6.5 7 Domain 8 - Non-reproductive decision-making Lifestyle changes influenced by results of RGCS 6.3 7 2.5 1 Insurance decisions influenced by results of RGCS 5.7 6 2.8 3 Domain 9 - Timeliness Turnaround time for results 4.7 5 5.8 6 Gestational age in the prenatal setting b 5.7 6 6.2 6 Proportion of RGCS conducted within an ideal time-frame b 5.3 6 6.0 7 Time intervals between key steps of the RGCS process 5.0 5 5.3 5 Domain 10 - Patient attitudes, perceptions and beliefs related to RGCS Perceived chance of carrier finding and preparedness for an increased risk result 4.8 5 5.0 5 Patient attitude towards RGCS (at the time of the screening offer) 5.2 6 5.2 6 Patient attitude towards RGCS (after results) 5.3 6 5.0 6 Patient perception that RGCS will inform their reproductive decisions (at the time of the screening offer) 7.2 7 7.2 7 Domain 11 - Deliberation and informed choice Time spend on deliberating on the decision to accept or decline screening 3.0 3 5.5 6 Patient perception that they had sufficient information to make a decision to accept or decline screening 4.0 4 7.7 9 Patient perception that they were engaged in the decision-making process 5.0 6 7.2 8 Patient perception that they made an informed choice to accept or decline RGCS 5.2 6 7.5 8 Informed choice defined by congruence of knowledge, attitudes, and decision-making 5.3 6 5.8 7 Domain 12 - Goals of pre- and post-test genetic counselling Genetic counselling presents screening and further testing as a choice 5.2 5 6.8 7 Genetic counselling provides sufficient information to meet patient needs 5.2 5 7.0 8 Patient perception of the timing and method of information provision during genetic counselling 5.2 5 6.2 7 Genetic counselling supports informed decision-making 5.0 5 6.7 8 Genetic counselling provider was knowledgeable and empathetic 5.2 5 6.3 7 Genetic counselling was accessible 7.0 7 7.3 9 Genetic counselling promoted reproductive empowerment 7.0 7 6.5 8 Domain 13 - Knowledge and understanding Patient understanding of RGCS 5.8 6 6.5 7 Patient recall of screening results at a later timepoint 4.0 4 6.8 7 Barriers and facilitators influencing patient understanding 5.2 5 7.2 8 Domain 14 - Acceptability of further testing and alternative reproductive options Patient preferences regarding PND, IVF/PGD and TOP 6.0 7 5.0 6 Patient religious views regarding PND, IVF/PGD and TOP 4.8 6 3.8 4 Patient perceptions of the societal acceptability of PND, IVF/PGD and TOP 5.2 6 3.5 4 Domain 15 - Psychological wellbeing Impact of results on parental prenatal attachment 5.5 5 3.8 4 Patient-reported anxiety 6.3 7 6.8 7 Grief and loss following an increased risk result 6.5 7 6.5 6 Impact of events (distress) following an increased risk result 6.0 6 7.0 7 Uncertainty and resilience in patients following an increased risk result 6.7 7 7.5 8 Impact of results on patient perception of their own health 6.8 8 6.0 6 Barriers and facilitators to patients psychological and emotional wellbeing during RCS 6.3 7 6.7 7 Domain 16 - Decision satisfaction and regret Retrospective satisfaction with the decision to accept or decline RGCS 6.5 7 6.0 7 Decisional regret associated with RGCS 6.7 7 6.2 7 Domain 17 - Privacy and stigmatisation concerns Patient concerns regarding stigmatisation 5.0 4 4.7 5 Patient concerns regarding privacy and confidentiality 5.3 5 5.0 6 Patient concerns regarding insurance 5.0 4 4.7 5 Domain 18 - Patient preferences Patient preference regarding which condition to include in RGCS 4.7 5 5.3 6 Patient preference regarding how many conditions are included in RGCS 4.7 6 5.2 6 Patient preference regarding ethnicity-specific versus pan-ethnic screening 5.2 5 4.2 4 Patient preference regarding the timing and setting of RGCS 4.7 5 4.5 5 Patient preference regarding the format of results 4.5 5 5.7 7 Patient preference regarding who offers RGCS 3.8 4 6.0 7 Domain 19 - Patient satisfaction with the processes of RGCS Satisfaction with accessibility, cost and convenience of the screening process 7.3 7 6.2 7 Satisfaction that information needs have been met 5.8 6 7.0 7 Satisfaction with healthcare providers 5.8 6 6.2 7 Domain 20 - Familial implications Dissemination of results to at-risk family members 6.3 6 4.7 6 Impact of results on couple’s relationship 7.0 7 5.8 6 Impact of results of family relationships 6.3 7 4.3 5 Support needs for dissemination of results to at-risk family members 5.3 5 5.7 6 Domain 21 - Perceived utility of RGCS Reproductive empowerment 6.8 7 7.2 8 Number of affected individuals born to patients who accessed RGCS 8.0 8 6.5 7 Patient perception that the timing of RGCS allowed them to maximise the utility of their results 5.7 6 5.3 5 a relevant to studies offering RGCS sequentially, b relevant to studies offering RGCS prenatally. Abbreviations: CVS - chorionic villus sampling, IVF/PGD – in vitro fertilisation with preimplantation genetic diagnosis, PND – prenatal diagnosis, TOP – termination of pregnancy Table 3: Round 2 rankings CODECS Outcome Domains and Outcome Descriptions Patient Group Health Professionals Group Mean Median Mean Median Domain 1 - Primary laboratory outcomes Carrier and couple detection rates 6.3 7 8.0 8 Domain 2 - Secondary or incidental laboratory outcomes Identification of secondary or incidental findings 5.5 6 6.3 6 Domain 3 - Technical laboratory outcomes Technical laboratory outcomes 6.0 6 6.0 6 Domain 4 - Uptake of services Uptake of RGCS 5.5 6 6.8 7 Barriers and facilitators to access and uptake of RGCS 5.3 5 6.3 6 Domain 5 - Genetic counselling resource use Uptake of post-test genetic counselling 6.5 8 7.8 8 Domain 6 - Further testing and reproductive decision-making Uptake of partner testing a 7.3 7 7.8 8 Uptake of PND b 7.3 8 8.0 8 Barriers and facilitators related to further testing and reproductive decision 6.5 7 6.8 7 Support needs when making reproductive decisions 5.0 5 6.3 7 Reproductive decisions following an increased risk result 8.3 8 8.3 9 Domain 7 - Pregnancy outcomes Results of PND (CVS or amniocentesis) b 6.5 7 7.2 7 Rate of fetal loss following PND b 6.3 7 2.8 3 Decision to continue or terminate a pregnancy identified to be affected through PND b 7.5 8 6.3 7 Results of IVF/PGD utilised by increased risk couples in subsequent pregnancies 6.8 7 5.7 6 Domain 8 - Patient attitudes, perceptions and beliefs related to RGCS Patient perception that RGCS will inform their reproductive decisions (at the time of the screening offer) 7.0 7 6.7 7 Domain 9 - Deliberation and informed choice Informed choice 5.0 5 6.0 7 Domain 10 - Knowledge and understanding Patient understanding of RGCS 6.3 7 6.3 6 Recall of screening result at a later timepoint 4.3 4 5.5 6 Barriers and facilitators influencing patients understanding of RGCS 4.8 5 6.7 7 Domain 11 - Psychological wellbeing Patient-reported anxiety 5.5 6 6.2 6 Grief and loss following an increased risk result 5.5 6 5.5 6 Impact of events (distress) following an increased risk result 5.8 7 6.2 7 Uncertainty and resilience in patients following an increased risk result 5.5 6 6.7 7 Impact of results on patients perception of their own health 5.5 6 5.3 6 Barriers and facilitators to patients psychological and emotional wellbeing during RGCS 5.0 5 6.0 6 Domain 12 - Decision satisfaction and regret Decisional satisfaction or regret related to RGCS 6.0 5 5.5 6 Domain 13 - Patient satisfaction with the processes of RGCS Satisfaction with accessibility, cost and convenience of the screening process 6.8 7 6.5 7 Satisfaction that information needs have been met 6.3 7 6.7 6 Domain 14 - Familial implications Impact of results on a couple’s relationship 6.8 7 5.2 6 Domain 15 - Perceived utility of RGCS Reproductive empowerment 7.3 8 6.8 7 Affected individuals born to patients who accessed RGCS 7.8 8 6.7 7 a relevant to specific study designs, b relevant to studies offering RGCS prenatally Abbreviations: CVS - chorionic villus sampling, IVF/PGD – in vitro fertilisation with preimplantation genetic diagnosis, PND – prenatal diagnosis, TOP – termination of pregnancy Additional Declarations There is no duality of interest Supplementary Files Supplementarymaterial.docx Supplementary material 1 – Outcomes excluded from Round 2 Supplementary material 2 – Outcomes eligible for inclusion in Round 2 Supplementary material 3 – Outcomes combined for Round 2 Supplementary material 4 – List of outcomes per tier following Round 2 Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-2399263","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":161739390,"identity":"6491798a-445b-482e-9644-52dc743590e8","order_by":0,"name":"Ebony Richardson","email":"data:image/png;base64,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","orcid":"https://orcid.org/0000-0003-4260-7356","institution":"University of Technology Sydney","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Ebony","middleName":"","lastName":"Richardson","suffix":""},{"id":161739391,"identity":"009fe15a-14d5-4921-ad06-e97305e415b4","order_by":1,"name":"Alison McEwen","email":"","orcid":"https://orcid.org/0000-0001-8705-1190","institution":"University of Technology Sydney","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Alison","middleName":"","lastName":"McEwen","suffix":""},{"id":161739392,"identity":"c51fbab5-f5a5-4d50-a4b8-c13a188acbf0","order_by":2,"name":"Toby Newton-John","email":"","orcid":"","institution":"University of Technology Sydney","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Toby","middleName":"","lastName":"Newton-John","suffix":""},{"id":161739393,"identity":"ca30630c-07fe-4c84-b748-8aa78753cdc3","order_by":3,"name":"Chris Jacobs","email":"","orcid":"https://orcid.org/0000-0002-9557-9080","institution":"University of Technology Sydney (UTS)","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Chris","middleName":"","lastName":"Jacobs","suffix":""}],"badges":[],"createdAt":"2022-12-21 00:26:01","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-2399263/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-2399263/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":30688305,"identity":"8f0ab814-779d-47ca-b8a4-4a5bdab78b45","added_by":"auto","created_at":"2022-12-22 21:38:14","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":269345,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eCompiling outcomes for inclusion in Round 1\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure1.png","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/0fd7ad04555422ae80c88915.png"},{"id":30688568,"identity":"041af192-2e42-4eaf-94f8-700f735e94fd","added_by":"auto","created_at":"2022-12-22 21:46:13","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":210615,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eReduction in outcomes based on Round 1 results\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure2.png","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/2f9a092d3c0fad50a4f06812.png"},{"id":30688307,"identity":"a3354175-7777-4fc8-95ba-c203de918d2a","added_by":"auto","created_at":"2022-12-22 21:38:14","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":521694,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eDistribution of rankings from Round 1.\u003c/strong\u003e Vertical columns show the mean and median for each of the 83 outcomes; values for the patient group are indicated in orange and health professional group in green. Mean thresholds are shown to assist with interpretation. Per the defined criteria, outcomes with a mean ≥ 6.5 and median ≥7 from either participant group and ≥4 in the other group were included in Round 2.\u003c/p\u003e","description":"","filename":"Figure3.png","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/3ed46608c5765cee7592110a.png"},{"id":30688302,"identity":"7d1b49f9-6ded-4ab4-85c9-458a7ec3c7c8","added_by":"auto","created_at":"2022-12-22 21:38:13","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":337094,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eDistribution of rankings in Round 2\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"Figure4.png","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/5a694ca2a533b862a9909b13.png"},{"id":30688570,"identity":"8cbd7ac5-b70c-49f2-a550-98da73e54b88","added_by":"auto","created_at":"2022-12-22 21:46:14","extension":"png","order_by":5,"title":"Figure 5","display":"","copyAsset":false,"role":"figure","size":616227,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003ePreliminary COS.\u003c/strong\u003e Defined by Tier 1 outcomes that reached consensus on critical importance.\u003c/p\u003e","description":"","filename":"Figure5.png","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/b9564c8d2c272a655c0b9263.png"},{"id":31308299,"identity":"c8fee01f-442a-414a-8a0d-86106f7dc3d9","added_by":"auto","created_at":"2023-01-09 14:57:07","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2180248,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/0b0d1cbb-9d3c-4280-93ca-d8c378487432.pdf"},{"id":30688964,"identity":"50decde3-a1ef-4824-8a28-97adf35a18bf","added_by":"auto","created_at":"2022-12-22 21:54:14","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":44132,"visible":true,"origin":"","legend":"\u003cp\u003eSupplementary material 1 – Outcomes excluded from Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 2 – Outcomes eligible for inclusion in Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 3 – Outcomes combined for Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 4 – List of outcomes per tier following Round 2\u003c/p\u003e","description":"","filename":"Supplementarymaterial.docx","url":"https://assets-eu.researchsquare.com/files/rs-2399263/v1/a3ee9f5548fed3aa0c11c083.docx"}],"financialInterests":"There is no duality of interest","formattedTitle":"Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders","fulltext":[{"header":"Introduction","content":"\u003cp\u003eDemonstration of the benefits of genetic health interventions, including genetic counselling and genetic testing, is needed to inform best practice, guide policy and funding, and ensure responsible implementation in patient care. The assessment of outcomes that can accurately capture the impact is an important component of demonstrating these benefits.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e A range of outcomes have been reported across the literature, but there is limited evidence to identify which outcomes are the most appropriate to assess. Recent systematic approaches have attempted to understand the outcomes of genetic counselling\u003csup\u003e\u003cspan additionalcitationids=\"CR4 CR5\" citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e and genetic services\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e,\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/sup\u003e at a broad scale. However, applying this knowledge to the evaluation of a specific genetic health intervention remains challenging. This study focused on the outcomes of reproductive genetic carrier screening (RGCS) as a model for how a systematic process of defining and prioritising outcomes on a specific topic, known as a core outcome development study, can lead to clarification of outcomes of importance and guide future research.\u003c/p\u003e \u003cp\u003eRGCS identifies individuals and couples with an increased risk of having a child affected by a recessive or X-linked condition. Prospective parents can use this information to inform their reproductive decision-making. RGCS has been offered since the 1970s in groups with a high prevalence of specific genetic conditions, such as Tay-Sachs disease in Ashkenazi Jewish communities and thalassaemia in communities of Mediterranean descent.\u003csup\u003e\u003cspan additionalcitationids=\"CR10\" citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e\u003c/sup\u003e Practice recommendations initially endorsed the targeted offer of RGCS in such populations with prior indications. However, with the expansion of genomic testing capabilities and increasing recognition of the limitations of ethnicity-based risk estimation, professional organisations now support the offer of RGCS to all women planning a pregnancy or in their first trimester.\u003csup\u003e\u003cspan additionalcitationids=\"CR13\" citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eAs RGCS moves from a targeted offer in increased risk groups, to a population-based screening program available broadly to the general population, an understanding of the benefits and potential harms is crucial to ensuring responsible implementation.\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e The Core Outcome DEvelopment for Carrier Screening (CODECS) study aims to define a set of core outcomes that have been identified through a rigorous review of current knowledge and in consultation with key stakeholders.\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e The goal of a core outcome set (COS) is to ensure that outcomes being assessed in research can meaningfully capture the impact of RGCS, which will increase the likelihood that they can directly inform practice and policy.\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e In a systematic review of quantitative studies reporting RGCS we identified a high degree of outcome heterogeneity, which illustrated the difficulty identifying which outcomes are most informative and appropriate to assess in studies of RGCS.\u003csup\u003e\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e\u003c/sup\u003e We also found that few studies have incorporated patient-reported outcome measures and no evidence of patient involvement in deciding which outcomes are relevant, which has led to a limited representation of the patient perspective. A sequential review of the qualitative literature highlighted the important patient-led outcomes that have not been incorporated into quantitative evaluations of RGCS to date and identified gaps in knowledge about the benefits and potential adverse impacts.\u003csup\u003e\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e\u003c/sup\u003e Consultations with patient stakeholders further re-iterated the importance of these patient-led outcomes as a focus for future research.\u003csup\u003e\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eA consensus process through which all collated outcomes from previous steps are reviewed, refined and prioritised by key stakeholders is the culmination of a core outcome development study. The goal of this process is to determine which outcomes are the most important to define as core outcomes that should be reported in all future studies on RGCS. This consensus process typically includes a Delphi survey and consensus meeting that includes all relevant groups and stakeholders that would be impacted by the definition of a core outcome set. Herein, we report a Delphi survey of Australian and New Zealand (AUS/NZ) stakeholders as a first step in a consensus process to define a COS for RGCS. The aim of this Delphi survey was to determine the degree of consensus among AUS/NZ stakeholders on the core outcomes of RGCS and to identify any further outcomes for inclusion in future steps of the consensus process.\u003c/p\u003e"},{"header":"Materials And Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eStudy design\u003c/h2\u003e \u003cp\u003eThe Delphi process is a validated method for achieving consensus across a range of settings. In studies aiming to develop a COS, the Delphi process is used to refine and prioritise the \u0026lsquo;long list\u0026rsquo; of outcomes collected from previous steps, such as systematic reviews and stakeholder consultations.\u003csup\u003e\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u003c/sup\u003e We designed an iterative online two-round Delphi survey to be completed by participants with experience with or expertise in RGCS. This study is reported per recommendations from the Core Outcome Measures in Effectiveness Trials (COMET) initiative.\u003csup\u003e\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e\u003c/sup\u003e Ethics approval was granted by the University of Technology Sydney Ethics Committee (UTS HREC ETH20-5179).\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003eParticipant selection\u003c/h2\u003e \u003cp\u003eAn expert panel of AUS/NZ participants was convened. Participants belonged to two groups: patient experts who had undertaken RGCS and health professionals with roles encompassing offering RGCS as part of a clinical service conducting research on RGCS or contributing to policy and practice recommendations. Participants were selected purposively based on their experience of RGCS across AUS/NZ. Patient participants were identified from previous stakeholder consultations in which co-design methods were used to elicit outcomes of importance to patients and had provided consent to be approached for the Delphi survey.\u003csup\u003e\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e Health professional participants were identified by the first and last authors of publications included in our sequential systematic review\u003csup\u003e\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e,\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e\u003c/sup\u003e, listed committee members from key policy and practice recommendations, and through professional networks within AUS/NZ.\u003c/p\u003e \u003cdiv id=\"Sec5\" class=\"Section3\"\u003e \u003ch2\u003eSample size\u003c/h2\u003e \u003cp\u003eGuidance about what constitutes a sufficient number of Delphi survey participants is not currently available, and there is wide variability in panel sizes across core outcome development studies.\u003csup\u003e\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e,\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e\u003c/sup\u003e Smaller panels have been shown to produce reliable results when composed of experts with similar experiences who are immersed in the research topic. Therefore, the goal was to convene a panel of 12 experts with a common experience and understanding of RGCS as currently offered in AUS/NZ.\u003csup\u003e22,24\u003c/sup\u003e\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec6\" class=\"Section3\"\u003e \u003ch2\u003eRecruitment\u003c/h2\u003e \u003cp\u003e All participants were approached via email, provided with brief information about the purpose of the Delphi survey and prompted to respond to the invitation if they were interested in participating. Health professionals were asked to suggest alternative participants if they were unable to participate themselves. The survey was anonymised and participants were unaware of the identity of other participants. Invitees were informed that participation was voluntary and would involve completing 2\u0026ndash;3 surveys over a 6-month period, each expected to take about 30 minutes. The importance of committing to the full consensus process was conveyed to invitees.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec7\" class=\"Section3\"\u003e \u003ch2\u003ePrior knowledge\u003c/h2\u003e \u003cp\u003eFour patient participants had previously participated in stakeholder consultations using co-design methods to elicit outcomes of importance to patients undertaking RGCS, one was not eligible for the stakeholder consultations as they had not received their RGCS results at the time of recruitment but had expressed interest in participating in the Delphi survey once eligible, and one was a patient representative involved in the CODECS study advisory group. Patient participants were therefore familiar with the concept of outcomes and were able to recall the outcomes discussed during their previous interactions with this study. All health professional participants were actively involved in practice, research and/or policy on RGCS and may have been aware of previously published work, including a systematic review\u003csup\u003e\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e,\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e\u003c/sup\u003e that had been published at the time of the Delphi survey.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eCompiling outcomes\u003c/h2\u003e \u003cp\u003eAll outcomes collected from the systematic review process\u003csup\u003e\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e,\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e\u003c/sup\u003e and qualitative interviews with patient stakeholders\u003csup\u003e\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e were collated into a block diagram. The combined list comprised 175 outcomes across 25 CODECS outcome domains. Each outcome domain was reviewed by ER and the Study Management Group (SMG: CJ, AM, TNJ) to determine which outcomes warranted inclusion in the Delphi process. Exclusion from the Delphi process was based on the relevance to the scope of the COS. Outcomes that were highly specific to a particular group or not widely applicable to pan-ethnic carrier screening in a population-based context were considered for exclusion. Similar or overlapping outcomes were combined where appropriate. Following review, 83 outcomes across 21 domains were included in Round 1 (Fig.\u0026nbsp;13).\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec9\" class=\"Section2\"\u003e \u003ch2\u003ePiloting Delphi questions\u003c/h2\u003e \u003cp\u003eThe survey was piloted with two patient representatives and two health professional representatives. Participants were asked to comment on the phrasing of each outcome, clarity of the instructions, and the appropriateness of the questions for both patient and health professionals. Each question was structured according to the overarching outcome domain, meaning that Round 1 consisted of 21 questions, with multiple outcomes to rate within each. Comments provided during piloting were used to make minor changes to the wording before the outcomes were finalised.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec10\" class=\"Section2\"\u003e \u003ch2\u003eData collection\u003c/h2\u003e \u003cp\u003eData were collected using the Qualtrics platform.\u003csup\u003e\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e\u003c/sup\u003e Participants were sent reminders when 2 weeks, 1 week and 1 day were remaining to complete the survey for both rounds.\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section3\"\u003e \u003ch2\u003eRound 1\u003c/h2\u003e \u003cp\u003eThe Round 1 survey was available to participants for 4 weeks (Jan-Feb 2022). Participants rated the importance of 83 outcomes using a nine-point Likert scale. Rankings 1\u0026ndash;3 indicated \u0026ldquo;limited importance\u0026rdquo;, 4\u0026ndash;6 indicated \u0026ldquo;important but not critical\u0026rdquo; and 7\u0026ndash;9 indicated \u0026ldquo;critical importance\u0026rdquo;, in accordance with the Grading of Recommendations Assessment, Development and Evaluation (GRADE) process.\u003csup\u003e\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e\u003c/sup\u003e A free text box was provided for participants to suggest new outcomes, and separate free text boxes were available for participants to record their general comments about each outcome. Distributions of Round 1 rankings were plotted graphically and reviewed with a statistician to determine the appropriate thresholds for inclusion in Round 2, as reported below.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section3\"\u003e \u003ch2\u003eRound 2\u003c/h2\u003e \u003cp\u003eRound 2 was opened 3 weeks after Round 1 closed and was available to participants for 6 weeks (March-April 2022). Participants were shown their own rankings from Round 1 for each outcome, and the mean, median and range of rankings per group. Instructions on how to approach the re-ranking of outcomes and clarifications of certain outcomes were provided. De-identified comments from Round 1 were shown where relevant. Participants were asked to re-rank items on the same nine-point Likert scale. Distributions of Round 2 rankings were plotted graphically and grouped by the degree of consensus regarding the importance of each outcome. The SMG discussed the results following Round 2 and determined that a third round was unlikely to provide additional insights and would be overly onerous on participants; therefore, the Round 2 rankings were used to establish tiers of consensus to inform a preliminary COS.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003e6.4.6 Data analysis\u003c/h2\u003e \u003cdiv id=\"Sec14\" class=\"Section3\"\u003e \u003ch2\u003eDefining thresholds for inclusion/exclusion\u003c/h2\u003e \u003cp\u003eA range of consensus definitions are used across the Delphi literature.\u003csup\u003e\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e\u003c/sup\u003e Previously defined thresholds from our published protocol\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e were not applicable because of significant differences in the sample sizes between the planned international Delphi survey and this smaller survey of AUS/NZ stakeholders. When determining an alternative appropriate threshold for use in this Delphi survey, we elected to apply the approach defined by the Standardised Outcomes in Nephrology (SONG) initiative, which uses the mean and median ratings of each outcome in context with the overall distribution of rankings to determine appropriate cut-offs for inclusion or exclusion in subsequent rounds.\u003csup\u003e\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e\u003c/sup\u003e This approach suggested a baseline threshold for inclusion in Round 2 if the outcome had a mean and median of \u0026gt;\u0026thinsp;7, with the caveat that this threshold may need to be adjusted depending on the distribution of rankings.\u003c/p\u003e \u003cp\u003eAt the conclusion of Round 1, the distribution of rankings was analysed by ER and reviewed by a statistician to determine the appropriate thresholds for inclusion in Round 2. Outcomes with a mean\u0026thinsp;\u0026ge;\u0026thinsp;6.5 and median\u0026thinsp;\u0026ge;\u0026thinsp;7 from either participant group and \u0026ge;\u0026thinsp;4 in the other group were included in Round 2. Setting the mean threshold at 6.5 was a pragmatic decision based on the appropriateness of decimal values when calculating the mean, as opposed to the median which was restricted to absolute numbers based on the nine-point Likert scale used. The mean, median and proportion of participants who rated each outcome 7\u0026ndash;9 (critically important) were calculated separately for patients and health professionals. Outcome decisions (include/exclude) and any changes to the proposed outcomes for Round 2 were reviewed with the SMG for approval. The sample size was too small to conduct subgroup analysis to identify statistical differences between groups.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec15\" class=\"Section3\"\u003e \u003ch2\u003eDefining consensus on the critical importance of outcomes\u003c/h2\u003e \u003cp\u003eConsensus on outcomes considered to be of critical importance was defined as outcomes with mean and median rankings\u0026thinsp;\u0026ge;\u0026thinsp;8 in either group and a percentage of stakeholders rating the outcome as \u0026lsquo;critically important\u0026rsquo; \u0026gt;70%. Any outcomes that reached this threshold in Round 1 were considered to have reached consensus regarding their critical importance and were not included in Round 2.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec16\" class=\"Section3\"\u003e \u003ch2\u003eChanges to outcomes following Round 1\u003c/h2\u003e \u003cp\u003eBased on participant feedback in Round 1, some outcomes were reviewed for re-wording or to be combined into new outcomes. ER prepared all outcomes that reached the threshold for inclusion in Round 2 and presented these to the SMG for agreement.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec17\" class=\"Section3\"\u003e \u003ch2\u003eQuantitative analysis\u003c/h2\u003e \u003cp\u003eThe mean, median and proportion of participants who rated the outcome as critically important (7 to 9) were calculated for each outcome in both rounds. Data were analysed for patient and health professional groups separately. The overall distribution of rankings from both groups was plotted graphically. Outcomes with similar rankings were grouped into tiers representing the degree of consensus and importance attributed to each outcome. Outcomes that reached consensus as being critically important were used to define a preliminary core outcome following Round 2.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec19\" class=\"Section2\"\u003e \u003ch2\u003eParticipant characteristics\u003c/h2\u003e \u003cp\u003eA summary of the participants is provided in Table\u0026nbsp;7. Round 1 was completed by all 12 participants, seven from Australia and five from New Zealand. Equal representation was obtained between patient and health professional groups. Four patient participants had low risk results from RGCS (two individuals and one reproductive couple), one was identified as a carrier following a fetal loss due to an X-linked condition and undertook RGCS to exclude other genetic conditions, and one was part of a carrier couple identified through preconception screening. Health professional participants included genetic counsellors, clinical geneticists, researchers, policy-makers and genetic pathologists; the expertise of many health professional participants overlapped between multiple areas. Round 2 was completed by 10 participants (retention 83%).\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec20\" class=\"Section2\"\u003e \u003ch2\u003eDistribution of rankings from Round 1 and inclusion in Round 2\u003c/h2\u003e \u003cp\u003eThe outcomes included and excluded from Round 2 are summarised in Fig.\u0026nbsp;14. The mean and median rankings per group for each outcome are shown in Table\u0026nbsp;8.\u003c/p\u003e \u003cp\u003eOnly one outcome reached consensus as being critically important to include in all future studies of RGCS after Round 1: \u003cem\u003e\u0026ldquo;Reproductive decisions made by patients post-test and long term\u0026rdquo;.\u003c/em\u003e\u003c/p\u003e \u003cp\u003eThirty-six outcomes were agreed as not being critically important to include in a COS, as indicated by mean and median scores below the defined thresholds in both groups and were excluded from Round 2. The remaining 46 outcomes and associated comments from participants were reviewed by ER. Twenty-two of the eligible outcomes were combined and re-worded into eight new outcomes for Round 2. No new outcomes were suggested by participants. The full outcome details are available in the supplementary material. The distributions of rankings for each outcome are shown in Fig.\u0026nbsp;15.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec21\" class=\"Section2\"\u003e \u003ch2\u003eDistribution of Round 2 rankings and definition of tiers of consensus\u003c/h2\u003e \u003cp\u003eThe mean and median rankings per group for each outcome in Round 2 are shown in Table\u0026nbsp;9. All outcomes in Round 2 were ranked either \u0026ldquo;important but not critical\u0026rdquo; or \u0026ldquo;critically important\u0026rdquo; by one or both groups of participants. The distributions of rankings are shown in Fig.\u0026nbsp;16. Based on the results following Round 2, the decision was made to not progress to a third round of the Delphi survey because this would have been unnecessarily onerous on participants and was unlikely to yield additional helpful insights. The distribution of rankings following Round 2 was used to define tiers representing the degree of consensus regarding the importance of each outcome.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec22\" class=\"Section2\"\u003e \u003ch2\u003eTier 1 outcomes and definition of a preliminary COS\u003c/h2\u003e \u003cp\u003eTier 1 outcomes were those that reached consensus as being of critical importance to include in all future studies. These outcomes were in the CODECS outcome domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use, and (4) perceived utility. Within these domains, the prioritised outcomes were (1.1) carrier and couple detection rates, (2.1) uptake of prenatal diagnosis, (2.2) decision to continue or terminate an affected pregnancy, (3.1) uptake of partner testing, (3.2) uptake of post-test genetic counselling, (4.1) reproductive decisions made by patients post-test and long term, (4.2) reproductive empowerment, and (4.3) affected individuals born to patients who accessed RGCS. A preliminary COS based on these outcomes, including the full outcome description, is shown in Fig.\u0026nbsp;17.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec23\" class=\"Section2\"\u003e \u003ch2\u003eLower tiers of consensus\u003c/h2\u003e \u003cp\u003eA list of all outcomes per tier is available in the supplementary material.\u003c/p\u003e \u003cdiv id=\"Sec24\" class=\"Section3\"\u003e \u003ch2\u003eTier 2\u003c/h2\u003e \u003cp\u003eFive outcomes were grouped in Tier 2 based on their rankings that reflected general agreement across stakeholders of critically importance but failed to reach the consensus threshold.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec25\" class=\"Section3\"\u003e \u003ch2\u003eTier 3\u003c/h2\u003e \u003cp\u003eNine outcomes were grouped in Tier 3 based on their rankings where one participant group considered them critically important and the other important but not critical.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec26\" class=\"Section3\"\u003e \u003ch2\u003eTier 4\u003c/h2\u003e \u003cp\u003eNine outcomes were grouped in Tier 4 based on their rankings that demonstrated consensus between groups that they are important but not critical for all future studies to report. The ranking of importance for these outcomes decreased between Round 1 and Round 2. Thirty-six outcomes from Round 1 that were excluded from Round 2 were also included in this tier. These outcomes may represent outcomes that are not considered \u0026lsquo;core\u0026rsquo; with regard to being relevant to all studies of RGCS but have recognised importance for providing information about key aspects of the RGCS process. Such outcomes are appropriate to assess to create an evidence base to address specific research questions but are unlikely to need to be continually assessed once this evidence based is established.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv id=\"Sec27\" class=\"Section2\"\u003e \u003ch2\u003eOutcomes with no agreement\u003c/h2\u003e \u003cp\u003eOne outcome \u0026ldquo;rate of fetal loss following prenatal diagnosis (CVS or amniocentesis)\u0026rdquo; was discordant between groups. Comments collected from participants elucidated the reason for the lack of agreement between groups. Health professional participants, who were aware of the literature on this topic from the broader obstetric field, did not feel that this was a direct outcome of RGCS but rather of the prenatal diagnostic procedure, and that sufficient data were available regarding rates of fetal loss. Without this broader context, patients understandably considered this a critical outcome.\u003c/p\u003e \u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eOutcomes are the means by which we evaluate the impact and effectiveness of health interventions. The choice of outcomes directly impacts the quality of the evidence available for such evaluations and whether evidence to inform practice and policy is available. The ad hoc definition of outcomes in individual studies is a common theme across the medical literature but leads to questions about why outcomes were chosen, their relevance to all key stakeholders, issues with selection or reporting bias and difficulty comparing outcomes across studies.\u003csup\u003e\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e\u003c/sup\u003e This study demonstrates the process of systematically defining core outcomes of importance to key stakeholders in RGCS, including patients/prospective parents accessing RGCS, genetic health professionals, researchers and policy-makers.\u003c/p\u003e \u003cp\u003eConsistent reporting of primary laboratory outcomes allows for comparison between studies and provides empirical evidence to guide best practice. Different schools of thought favour (1) couple-based screening, which reports only reproductive risk as a couple or (2) sequential screening, which screens one partner first (typically the female partner) followed by the other partner only if the first partner is reported to be a carrier. The couple-based approach has two benefits. First, it minimises the cost and resources for partner testing and follow-up\u003csup\u003e\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e,\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e\u003c/sup\u003e. Secondly, it reduces the chance of the couple misunderstanding their reproductive risks (and potential subsequent anxiety).\u003csup\u003e\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e\u003c/sup\u003e Issues around the couple-based approach include the inability of individual carriers to inform their at-risk relatives of their carrier status and the need for repeat testing if individuals re-partner.\u003csup\u003e\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e\u003c/sup\u003e To illustrate how these potential benefits and issues impact stakeholders, we recommend that future research assessing couple-based RGCS report the number of couples identified as increased risk following screening. Studies offering sequential RGCS should report the number of individual carriers and the number of couples at increased risk. Researchers should also consider the associated outcome domain \u0026lsquo;Resource use\u0026rsquo; to report the uptake of partner testing. Partner testing is an important outcome to understand whether offering RGCS sequentially is an access barrier for couples because of the additional time and effort required to present for screening twice. Both couple-based and sequential study types should orient primary laboratory outcomes within their dataset as a percentage of total individuals or couples screened.\u003c/p\u003e \u003cp\u003eThe participants in this study considered pregnancy outcomes to be critically important for studies offering RGCS prenatally to report. Although RGCS is ideally offered preconception, for practical reasons a large percentage of patients continue to access RGCS prenatally and practice recommendations support its offer to all women during their first trimester of pregnancy.\u003csup\u003e\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e\u003c/sup\u003e There are additional challenges for RGCS in the prenatal setting, including the limited time for decision-making, fewer reproductive decisions available to couples and complexities in ensuring appropriate genetic counselling to differentiate RGCS from other prenatal tests\u003csup\u003e\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e\u003c/sup\u003e. We recommend that studies report whether increased risk couples elect to proceed with invasive prenatal testing and (where relevant) the decision to continue or terminate their pregnancy. These are foundational outcomes to capture the experience of couples accessing RGCS prenatally. Consistent reporting of these outcomes across all studies will improve the understanding of couples\u0026rsquo; decision-making and allow for comparisons of decision-making in couples accessing RGCS preconception. These outcomes will help to guide how RGCS is offered in the future and whether additional support is needed for patients accessing RGCS in the prenatal period.\u003c/p\u003e \u003cp\u003eResource use is a crucial element of scaling RGCS to a population screening offer. The current resource limitations in the genetics workforce are a key element of scaling. A lack of appropriately trained genetic health professionals necessitates the use of non-genetics health professionals as alternative providers to offer RGCS to free up the specialised genetic workforce to manage only increased risk or complex cases.\u003csup\u003e\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e\u003c/sup\u003e A recent systematic review of the barriers to enablers of the implementation of RGCS identified several barriers centred around the availability of support from a genetic counsellor to non-genetics health professionals.\u003csup\u003e\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e\u003c/sup\u003e Studies highlighted a mismatch between the resource-intensive and specialised nature of genetic counselling for RCGS in the face of a limited genetic counselling workforce.\u003csup\u003e\u003cspan additionalcitationids=\"CR38 CR39\" citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e\u003c/sup\u003e One study found that a median of 64 minutes was required for post-test genetic counselling.\u003csup\u003e\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e\u003c/sup\u003e Although many outcomes related to resource use were considered during this Delphi survey, participants prioritised the uptake of post-test genetic counselling as a critically important outcome. This outcome reflected the desire to understand the resources required to manage RGCS results when offered through non-genetics health professionals. We recommend that studies offering RGCS through non-genetics health professionals report the uptake of post-test genetic counselling with a genetics health professional (genetic counsellor or clinical geneticist). As RGCS becomes increasingly available, this outcome is critical to understand workforce requirements and to build evidence for increased resource allocation.\u003c/p\u003e \u003cp\u003eThe goals of RGCS are innately intertwined with the assessment of utility. Goals describe the intended benefits of RGCS, whereas utility represents the practical assessment of such benefits through the measurement of outcomes. The goals and utility of RGSC are conceptualised in various ways in the literature, and there is no consensus on the most appropriate outcomes to assess to capture the impact at this overarching level. Approaches have evolved over time; early RGCS screening programs measured utility based on the prevention of genetic conditions and reduction in disease incidence.\u003csup\u003e\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e,\u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e,\u003cspan citationid=\"CR42\" class=\"CitationRef\"\u003e42\u003c/span\u003e\u003c/sup\u003e However, recent discussions have questioned the ethical appropriateness of such an outcome in the context of general population screening and expanded panels.\u003csup\u003e\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e\u003c/sup\u003e From a bioethical perspective, reducing disability or disease incidence is problematic and is not recommended as a primary goal of RGCS\u003csup\u003e\u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e44\u003c/span\u003e\u003c/sup\u003e, although it is recognised that this could be considered an important aspect by individual participants in RGCS if their motivations and values reflect a desire to reduce the suffering associated with the unexpected birth of a child with a severe genetic condition. The prioritisation of the outcome \u0026lsquo;affected births\u0026rsquo; in the preliminary COS reported here may reflect the values of the stakeholder participants, and it will be important to consider the appropriateness of including this outcome in a final COS following international consultation with a larger cohort of stakeholders.\u003c/p\u003e \u003cp\u003eThe goal to facilitate reproductive autonomy and to enable informed reproductive decision-making is currently favoured\u003csup\u003e\u003cspan citationid=\"CR45\" class=\"CitationRef\"\u003e45\u003c/span\u003e,\u003cspan citationid=\"CR46\" class=\"CitationRef\"\u003e46\u003c/span\u003e\u003c/sup\u003e; however, it remains unclear how to assess the utility of RGCS for reproductive decision-making. A common suggestion is to measure reproductive decisions based on RGCS results, which are often used as a proxy to reflect informed reproductive decisions. However, an \u0026lsquo;informed\u0026rsquo; decision cannot be captured by a simple metric of behaviour. Rather, this needs to be considered from the patient perspective. Previous work highlights patient perceptions that reproductive empowerment most accurately captures the utility of RGCS.\u003csup\u003e\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e,\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e Empowerment considers behaviour in the wider context of cognitive capacity, knowledge and emotional state.\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e Building on these patient-derived findings, the participants in the study reported here perceived utility as a multifaceted concept requiring the assessment of multiple relevant outcomes encompassing broad societal impact (disease incidence or number of affected births), specific actions (reproductive decisions made by increased risk couples) and the patient perspective (feeling empowered to make reproductive decisions that align with patient values). A definition of utility that is aligned with the evolving goals of RGCS as a population screening program will be a continued focus of the CODECS study in the next stages of the consensus process to define a final COS.\u003c/p\u003e"},{"header":"Limitations","content":"\u003cp\u003eThis Delphi survey was limited to Australian and New Zealand participants, and does not represent international perspectives that may deviate from this context. Not all relevant stakeholder groups could be recruited for this Delphi survey because resource limitations hindered the inclusion of non-genetics health professionals such as general practitioners, midwives, and obstetrician gynaecologists who may offer RGCS. The perspectives of these practitioners will be a valuable addition to a future international consensus process. In regard to the conduct of the survey itself, the size of the Round 1 survey was onerous and may have led to fatigue in participants. In addition, the questions were not randomised because a logical approach was favoured give the size of the survey; this may have contributed disproportionately to survey fatigue in the later items/domains, although we note that this was not overtly apparent.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThe outcomes reported herein reflect the perspective of AUS/NZ stakeholders regarding the core outcomes of RGCS that should be reported by all futures studies on this topic. In its current form, this preliminary COS can be used as a guide for future research that wishes to incorporate evidence-based outcomes that can capture the benefits of RGCS, be used as a guide for auditing current RGCS offers and be used as a framework for systematic reviews to evaluate gaps in core evidence on this topic. A future international consensus process is needed to develop these outcomes further and to define a final COS that will be relevant to the diverse settings that RGCS is offered in worldwide. The core outcomes are not intended to represent all outcomes of importance to consider in studies of RGCS but represent a minimum that should be assessed and reported. Studies should continue to include other outcomes of relevance to their research question and context, and should be guided by recent publications that have highlighted important patient-led outcomes of RGCS.\u003csup\u003e\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e,\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eCONFLICT OF INTEREST NOTIFICATION PAGE\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNo conflicts to disclose\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFUNDING\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study is supported by the University of Technology Sydney and Graduate School of Health in the form of the Australian Research Training Program Fee Waiver Scholarship and Research Excellence Scholarship.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDATA AVAILABILITY\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eData generated as part of this study are available from the corresponding author on reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eACKNOWLEDGEMENTS\u003c/strong\u003e\u003cstrong\u003e\u003cbr\u003e\u0026nbsp;\u003c/strong\u003eThis study is supported by the University of Technology Sydney and Graduate School of Health in the form of the Australian Research Training Program Fee Waiver Scholarship and Research Excellence Scholarship. The authors thank Professor Edwin Kirk, Dr Alison Archibald, Dr Belinda McClaren, Ms Lucinda Freeman, and Ms Erin Macaulay, in additional to the remaining Delphi panel participants who have elected to remain anonymous, for their time and efforts in participating in this Delphi survey. They would also thank Dr Kris Rogers for statistical advice relating to the analysis of results. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAUTHOR INFORMATION\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAffiliations:\u0026nbsp;\u003c/strong\u003eGraduate School of Health, University of Technology Sydney, Building 20, 100 Broadway, Chippendale, NSW 2008, Sydney, Australia\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCorresponding Author:\u003c/strong\u003e Ebony Joanne Richardson, Graduate School of Health, University of Technology Sydney, Building 20, 100 Broadway, Chippendale, NSW 2008, Sydney, Australia, Phone: +61432639308, Email: [email protected]\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eETHICS DECLARATION\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study received ethics approval from The University of Technology Sydney Ethics Committee (UTS HREC ETH20-5179). The authors declare no conflicts of interest.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDESCRIPTION OF SUPPLEMENTAL DATA\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eSupplementary material 1 \u0026ndash; Outcomes excluded from Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 2 \u0026ndash; Outcomes eligible for inclusion in Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 3 \u0026ndash; Outcomes combined for Round 2\u003c/p\u003e\n\u003cp\u003eSupplementary material 4 \u0026ndash; List of outcomes per tier following Round 2\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eHayford T, Maeda JL. \u003cem\u003eIssues and challenges in measuring and improving the quality of health care\u003c/em\u003e. Congressional Budget Office Washington, DC; 2017.\u003c/li\u003e\n \u003cli\u003eMcAllister M, Moldovan R, Paneque M, Skirton H. The need to develop an evidence base for genetic counselling in europe. \u003cem\u003eEur J Hum Genet\u003c/em\u003e. 2016;24(4):504-505. doi:https://doi.org/10.1038/ejhg.2015.134\u003c/li\u003e\n \u003cli\u003ePayne K, Nicholls SG, McAllister M, et al. Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients\u0026rsquo; views. \u003cem\u003eHealth Policy\u003c/em\u003e. 2007;84(1):112-122. doi:https://doi.org/10.1016/j.healthpol.2007.03.005\u003c/li\u003e\n \u003cli\u003eRedlinger‐Grosse K, MacFarlane IM, Cragun D, Zierhut H. A Delphi study to prioritize genetic counseling outcomes: What matters most. \u003cem\u003eJ Genet Counsel\u003c/em\u003e. 2021;30(3):676-692. doi:https://doi.org/10.1002/jgc4.1352\u003c/li\u003e\n \u003cli\u003eRedlinger‐Grosse K, Veach PM, Cohen S, LeRoy BS, MacFarlane IM, Zierhut H. Defining our clinical practice: The identification of genetic counseling outcomes utilizing the reciprocal engagement model. \u003cem\u003eJ Genet Counsel\u003c/em\u003e. 2016;25(2):239-257. doi:https://doi.org/10.1007/s10897-015-9864-2\u003c/li\u003e\n \u003cli\u003eZierhut HA, Shannon K, Cragun D, Cohen S. Elucidating genetic counseling outcomes from the perspective of genetic counselors. \u003cem\u003eJ Genet Counsel\u003c/em\u003e. 2016;25(5):993-1001. doi:https://doi.org/10.1007/s10897-015-9930-9\u003c/li\u003e\n \u003cli\u003eMcAllister M, Dunn G, Todd C. Empowerment: Qualitative underpinning of a new clinical genetics-specific patient-reported outcome. \u003cem\u003eEur J Hum Genet\u003c/em\u003e. 2011;19(2):125-130. doi:https://doi.org/10.1038/ejhg.2010.160\u003c/li\u003e\n \u003cli\u003ePayne K, Nicholls S, McAllister M, MacLeod R, Donnai D, Davies L. Outcome measurement in clinical genetics services: A systematic review of validated measures. \u003cem\u003eValue Health\u003c/em\u003e. 2008;11(3):497-508. doi:https://doi.org/10.1111/j.1524-4733.2007.00259.x\u003c/li\u003e\n \u003cli\u003eKaback MM, Nathan TJ, Greenwald S. Tay-Sachs disease: Heterozygote screening and prenatal diagnosis - US experience and world perspective. \u003cem\u003eProg Clin Biol Res\u003c/em\u003e. 1977;18:13-36.\u003c/li\u003e\n \u003cli\u003eKaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. \u003cem\u003eEur J Pediatr\u003c/em\u003e. 2000;159(3):S192-S195. doi:https://doi.org/10.1007/pl00014401\u003c/li\u003e\n \u003cli\u003eCao A, Rosatelli MC, Monni G, Galanello R. Screening for thalassemia: a model of success. \u003cem\u003eObstet Gynecol Clin\u003c/em\u003e. 2002;29(2):305-328. doi:https://doi.org/10.1016/s0889-8545(01)00006-7\u003c/li\u003e\n \u003cli\u003eACOG Committee on Genetics. Committee opinion no. 691: Carrier screening for genetic conditions. \u003cem\u003eObstet Gynecol\u003c/em\u003e. 2017;129(3):e41-e55. doi:https://doi.org/10.1097/AOG.0000000000001952\u003c/li\u003e\n \u003cli\u003eRANZCOG Genomics Advisory Working Group \u0026amp; Women\u0026rsquo;s Health Committee. Genetic carrier screening. 2019. Available from http://ranzcog.edu.au/resources/statements-and-guidelines-directory/;\u003c/li\u003e\n \u003cli\u003eWilson R, De Bie I, Armour C, et al. Joint SOGC-CCMG opinion for reproductive genetic carrier screening: An update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing. \u003cem\u003eJournal of Obstetrics and Gynaecology Canada\u003c/em\u003e. 2016;38(8):742-762 e3. doi:https://doi.org/10.1016/j.jogc.2016.06.008\u003c/li\u003e\n \u003cli\u003eHenneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. \u003cem\u003eEur J Hum Genet\u003c/em\u003e. Jun 2016;24(6):e1-e12. doi:10.1038/ejhg.2015.271\u003c/li\u003e\n \u003cli\u003eRichardson E, McEwen A, Newton-John T, Manera K, Jacobs C. The Core Outcome DEvelopment for Carrier Screening (CODECS) study: Protocol for development of a core outcome set. \u003cem\u003eTrials\u003c/em\u003e. 2021;22(1):480. doi:https://doi.org/10.1186/s13063-021-05439-7\u003c/li\u003e\n \u003cli\u003eRichardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set. \u003cem\u003eGenet Med\u003c/em\u003e. 2021;24(1):1-14. doi:https://doi.org/10.1016/j.gim.2021.08.005\u003c/li\u003e\n \u003cli\u003eRichardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: A sequential systematic review. \u003cem\u003eEur J Hum Genet\u003c/em\u003e. Mar 28 2022;30(7):756-765. doi:https://doi.org/10.1038/s41431-022-01090-1\u003c/li\u003e\n \u003cli\u003eRichardson E, McEwen A, Newton-John T, Crook A, Jacobs C. Outcomes of importance to patients in reproductive genetic carrier screening: A qualitative study to inform a core outcome set. \u003cem\u003eJ Pers Med\u003c/em\u003e. 2022;12(8):1310. doi:https://doi.org/10.3390/jpm12081310\u003c/li\u003e\n \u003cli\u003eWilliamson P, Altman D, Bagley H, et al. The COMET handbook: Version 1.0. \u003cem\u003eTrials\u003c/em\u003e. 2017;18(3):1-50. doi:https://doi.org/10.1186/s13063-017-1978-4\u003c/li\u003e\n \u003cli\u003eSinha IP, Smyth RL, Williamson PR. Using the Delphi technique to determine which outcomes to measure in clinical trials: recommendations for the future based on a systematic review of existing studies. \u003cem\u003ePLoS Med\u003c/em\u003e. 2011;8(1):e1000393. doi:https://doi.org/10.1371/journal.pmed.1000393\u003c/li\u003e\n \u003cli\u003eAkins RB, Tolson H, Cole BR. Stability of response characteristics of a Delphi panel: application of bootstrap data expansion. \u003cem\u003eBMC Med Res Methodol\u003c/em\u003e. 2005;5(1):1-12. doi:https://doi.org/10.1186/1471-2288-5-37\u003c/li\u003e\n \u003cli\u003eNiederberger M, Spranger J. Delphi technique in health sciences: a map. \u003cem\u003eFrontiers in public health\u003c/em\u003e. 2020:457.\u003c/li\u003e\n \u003cli\u003eWaggoner J, Carline JD, Durning SJ. Is there a consensus on consensus methodology? Descriptions and recommendations for future consensus research. \u003cem\u003eAcad Med\u003c/em\u003e. 2016;91(5):663-668. doi:https://doi.org/10.1097/ACM.0000000000001092\u003c/li\u003e\n \u003cli\u003eQualtrics software (Version April 2022). Provo, UT, USA. https://www.qualtrics.com\u003c/li\u003e\n \u003cli\u003eSchunemann H. \u003cem\u003eGRADE handbook for grading quality of evidence and strength of recommendation. Version 3.2\u003c/em\u003e. 2008. Available from http://www.cc-ims.net/gradepro/.\u003c/li\u003e\n \u003cli\u003eStandardised Outcome in Nephrology (SONG) Initiative. \u003cem\u003eThe SONG Handbook for Establishing and Implementing Core Outcomes in Clinical Trials Across the Spectrum of Chronic Kidney Disease\u003c/em\u003e. Version 1.0. 2017. Available from: https://songinitiative.org/reports-and-publications/.\u003c/li\u003e\n \u003cli\u003eWilliamson P, Altman D, Blazeby J, et al. Developing core outcome sets for clinical trials: Issues to consider. \u003cem\u003eTrials\u003c/em\u003e. 2012;13(1):1-8. doi:https://doi.org/10.1186/1745-6215-13-132\u003c/li\u003e\n \u003cli\u003eLynch FL, Himes P, Gilmore MJ, et al. Time costs for genetic counseling in preconception carrier screening with genome sequencing. \u003cem\u003eJ Genet Counsel\u003c/em\u003e. 2018;27(4):823-833. doi:https://doi.org/10.1007/s10897-017-0205-5\u003c/li\u003e\n \u003cli\u003eDelatycki MB, Laing N, Kirk E. Expanded reproductive carrier screening\u0026mdash;how can we do the most good and cause the least harm? \u003cem\u003eEur J Hum Genet\u003c/em\u003e. 2019;27(5):669-670. doi:https://doi.org/10.1038/s41431-019-0356-y\u003c/li\u003e\n \u003cli\u003eBeard CA, Amor DJ, Di Pietro L, Archibald AD. \u0026quot;I\u0026apos;m healthy, it\u0026apos;s not going to be me\u0026quot;: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia. \u003cem\u003eAm J Med Genet A\u003c/em\u003e. 2016;170(8):2052-9. doi:https://doi.org/10.1002/ajmg.a.37697\u003c/li\u003e\n \u003cli\u003eGrody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. \u003cem\u003eGenet Med\u003c/em\u003e. 2001;3(2):149-154. doi:https://doi.org/10.1097/00125817-200103000-00010\u003c/li\u003e\n \u003cli\u003eArchibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. \u003cem\u003eGenet Med\u003c/em\u003e. 2018;20(5):513-523. doi:https://doi.org/10.1038/gim.2017.134\u003c/li\u003e\n \u003cli\u003eRothwell E, Johnson E, Mathiesen A, et al. Experiences among women with positive prenatal expanded carrier screening results. \u003cem\u003eJ Genet Couns\u003c/em\u003e. 2017;26(4):690-696. doi:https://doi.org/10.1007/s10897-016-0037-8\u003c/li\u003e\n \u003cli\u003eSchuurmans J, Birnie E, van den Heuvel L, et al. Feasibility of couple-based expanded carrier screening offered by general practitioners. \u003cem\u003eEur J Hum Genet\u003c/em\u003e. 2019;27(5):691-700. doi:https://doi.org/10.1038/s41431-019-0351-3\u003c/li\u003e\n \u003cli\u003eBest S, Long J, Theodorou T, et al. Health practitioners\u0026apos; perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review. \u003cem\u003ePrenat Diagn\u003c/em\u003e. 2021;41(6):708-719. doi:https://doi.org/10.1002/pd.5914\u003c/li\u003e\n \u003cli\u003eMorgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT. Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. \u003cem\u003eObstet Gynecol\u003c/em\u003e. 2005;105(6):1355-1361. doi:https://doi.org/10.1097/01.AOG.0000163251.54416.a6\u003c/li\u003e\n \u003cli\u003eJanssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P. Pre-and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists\u0026rsquo; views. \u003cem\u003eBMC Med Ethics\u003c/em\u003e. 2017;18(1):1-10. doi:https://doi.org/10.1186/s12910-017-0206-9\u003c/li\u003e\n \u003cli\u003eBenn P, Chapman AR, Erickson K, et al. Obstetricians and gynecologists\u0026apos; practice and opinions of expanded carrier testing and noninvasive prenatal testing. \u003cem\u003ePrenat Diagn\u003c/em\u003e. 2014;34(2):145-152. doi:https://doi.org/10.1002/pd.4272\u003c/li\u003e\n \u003cli\u003ePoppelaars FA, Ad\u0026egrave;r HJ, Cornel MC, et al. Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. \u003cem\u003eJ Genet Counsel\u003c/em\u003e. 2004;13(1):31-44. doi:https://doi.org/10.1023/b:jogc.0000013193.80539.d1\u003c/li\u003e\n \u003cli\u003eKaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. \u003cem\u003eGenet Test\u003c/em\u003e. 1998;2(4):271-292. doi:https://doi.org/10.1089/gte.1998.2.271\u003c/li\u003e\n \u003cli\u003eLew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ. Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. \u003cem\u003eMed J Aust\u003c/em\u003e. 2012;197(11-12):652-654. doi:https://doi.org/10.5694/mja12.11010\u003c/li\u003e\n \u003cli\u003eDive L, Newson AJ. Ethical issues in reproductive genetic carrier screening. \u003cem\u003eMed J Aust\u003c/em\u003e. 2021;214(4):165-167. doi:https://doi.org/10.5694/mja2.50789\u003c/li\u003e\n \u003cli\u003eDive L, Newson A. Ethics of reproductive genetic carrier screening: From the clinic to the population. \u003cem\u003ePublic Health Ethics\u003c/em\u003e. 2021;14(2):202-217. doi:https://doi.org/10.1093/phe/phab017\u003c/li\u003e\n \u003cli\u003eDe Wert GM, Dondorp WJ, Knoppers BM. Preconception care and genetic risk: ethical issues. \u003cem\u003eJ Community Genet\u003c/em\u003e. 2012;3(3):221-228. doi:https://doi.org/10.1007/s12687-011-0074-9\u003c/li\u003e\n \u003cli\u003eHoltkamp KC, Mathijssen IB, Lakeman P, et al. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. \u003cem\u003eEur J Public Health\u003c/em\u003e. 2017;27(2):372-377. doi:https://doi.org/10.1093/eurpub/ckw110\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003ctable border=\"0\" cellpadding=\"0\" cellspacing=\"0\" style=\"margin-right: calc(36%); width: 64%;\" width=\"100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"4\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eTable 1: Characteristics of Delphi survey participants\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"3\" style=\"width: 42.2693%;\" width=\"70.70707070707071%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDescriptor\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6425%;\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u003cstrong\u003eNumber of Participants\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"3\" style=\"width: 42.2693%;\" width=\"70.70707070707071%\"\u003e\n \u003cp\u003e\u003cstrong\u003eGender (n=12)\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6425%;\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"2\" valign=\"top\" width=\"3.0303030303030303%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 39.271%;\" valign=\"top\" width=\"67.67676767676768%\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e10 (83%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"2\" valign=\"top\" width=\"3.0303030303030303%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 39.271%;\" valign=\"top\" width=\"67.67676767676768%\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e2 (17%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"2\" valign=\"top\" width=\"3.0303030303030303%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 39.271%;\" valign=\"top\" width=\"67.67676767676768%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"3\" style=\"width: 42.2693%;\" valign=\"top\" width=\"70.70707070707071%\"\u003e\n \u003cp\u003e\u003cstrong\u003eCountry (n=12)\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6425%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003eAustralia (AUS)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e7 (58%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003eNew Zealand (NZ)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e5 (42%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"3\" style=\"width: 42.2693%;\" valign=\"top\" width=\"70.70707070707071%\"\u003e\n \u003cp\u003e\u003cstrong\u003eAreas of expertise (n=18*)\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6425%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003ePatient who has accessed RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e7 (39%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003eGenetic health professional (genetic counsellor or clinical geneticist)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e5 (28%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003eResearcher currently or previously involved in research on RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e3 (17%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003ePolicy-maker\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e2 (11%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" width=\"2.0202020202020203%\"\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" style=\"width: 40.241%;\" valign=\"top\" width=\"68.68686868686869%\"\u003e\n \u003cp\u003eGenetic pathologist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd style=\"width: 57.6426%;\" valign=\"top\" width=\"29.292929292929294%\"\u003e\n \u003cp\u003e1 (0.6%)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e*Some participants had multiple areas of expertise\u003c/p\u003e\n\u003ctable border=\"1\" cellpadding=\"0\" cellspacing=\"0\" width=\"100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" valign=\"top\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eTable 2: Round 1 rankings\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" width=\"46.93877551020408%\"\u003e\n \u003cp\u003e\u003cstrong\u003eCODECS Outcome Domains and Outcome Descriptions\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" width=\"26.53061224489796%\"\u003e\n \u003cp\u003e\u003cstrong\u003ePatients\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" width=\"26.53061224489796%\"\u003e\n \u003cp\u003e\u003cstrong\u003eHealth Professionals\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMean\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMedian\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMean\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMedian\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 1 - Primary laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eCarrier detection rate\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eIdentification of increased risk couples\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 2 - Secondary and incidental laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eIdentification of results that indicate the prospective parent undertaking RGCS is at increased risk of or affected by one of the conditions screened\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eIdentification of variants where the association with disease risk is unclear\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 3 - Technical laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eLaboratory errors leading to the incorrect interpretation of results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eTest failure and requests for replacement samples\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 4 - Uptake of services\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eNumber of RGCS tests conducted\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUptake of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eDecline of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators to access and uptake of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 5 - Genetic counselling resource use\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUptake of pre-test genetic counselling\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eTime required for pre-test genetic counselling\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUptake of post-test genetic counselling for increased risk couples\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eMode of genetic counselling (e.g. face-to-face, telehealth)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 6 - Further testing and reproductive decision-making\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUptake of partner testing\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators to access and uptake of partner testing\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUptake of prenatal diagnosis\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators to access and uptake of prenatal diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eReproductive decisions following an increased risk result\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators of patient uptake of IVF/PGD in increased risk couples\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators influencing patient experience of PND, IVF/PGD and TOP\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eSupport needs when making reproductive decisions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 7 - Pregnancy outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eResults of PND (CVS or amniocentesis)\u003csup\u003eb\u003c/sup\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eRate of fetal loss following PND\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eDecision to continue or terminate a pregnancy identified as affected through PND\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBirth rates for conditions that were included in screening\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eResults of IVF/PGD utilised by increased risk couples\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 8 - Non-reproductive decision-making\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eLifestyle changes influenced by results of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e2.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eInsurance decisions influenced by results of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e2.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 9 - Timeliness\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eTurnaround time for results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGestational age in the prenatal setting\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eProportion of RGCS conducted within an ideal time-frame\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eTime intervals between key steps of the RGCS process\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 10 - Patient attitudes, perceptions and beliefs related to RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePerceived chance of carrier finding and preparedness for an increased risk result\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient attitude towards RGCS (at the time of the screening offer)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient attitude towards RGCS (after results)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception that RGCS will inform their reproductive decisions (at the time of the screening offer)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 11 - Deliberation and informed choice\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eTime spend on deliberating on the decision to accept or decline screening\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception that they had sufficient information to make a decision to accept or decline screening\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception that they were engaged in the decision-making process\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception that they made an informed choice to accept or decline RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eInformed choice defined by congruence of knowledge, attitudes, and decision-making\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 12 - Goals of pre- and post-test genetic counselling\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling presents screening and further testing as a choice\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling provides sufficient information to meet patient needs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception of the timing and method of information provision during genetic counselling\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling supports informed decision-making\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling provider was knowledgeable and empathetic\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling was accessible\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGenetic counselling promoted reproductive empowerment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 13 - Knowledge and understanding\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient understanding of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient recall of screening results at a later timepoint\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators influencing patient understanding\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 14 - Acceptability of further testing and alternative reproductive options\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preferences regarding PND, IVF/PGD and TOP\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient religious views regarding PND, IVF/PGD and TOP\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perceptions of the societal acceptability of PND, IVF/PGD and TOP\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 15 - Psychological wellbeing\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eImpact of results on parental prenatal attachment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient-reported anxiety\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eGrief and loss following an increased risk result\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eImpact of events (distress) following an increased risk result\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eUncertainty and resilience in patients following an increased risk result\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eImpact of results on patient perception of their own health\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eBarriers and facilitators to patients psychological and emotional wellbeing during RCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 16 - Decision satisfaction and regret\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eRetrospective satisfaction with the decision to accept or decline RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eDecisional regret associated with RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 17 - Privacy and stigmatisation concerns\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient concerns regarding stigmatisation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient concerns regarding privacy and confidentiality\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient concerns regarding insurance\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 18 - Patient preferences\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding which condition to include in RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding how many conditions are included in RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding ethnicity-specific versus pan-ethnic screening\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding the timing and setting of RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding the format of results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient preference regarding who offers RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e3.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 19 - Patient satisfaction with the processes of RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eSatisfaction with accessibility, cost and convenience of the screening process\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eSatisfaction that information needs have been met\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eSatisfaction with healthcare providers\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 20 - Familial implications\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eDissemination of results to at-risk family members\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eImpact of results on couple\u0026rsquo;s relationship\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eImpact of results of family relationships\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e4.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eSupport needs for dissemination of results to at-risk family members\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 21 - Perceived utility of RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eReproductive empowerment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003eNumber of affected individuals born to patients who accessed RGCS\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"46.93877551020408%\"\u003e\n \u003cp\u003ePatient perception that the timing of RGCS allowed them to maximise the utility of their results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"13.26530612244898%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u003csup\u003ea\u0026nbsp;\u003c/sup\u003erelevant to studies offering RGCS sequentially, \u003csup\u003eb\u003c/sup\u003e relevant to studies offering RGCS prenatally. Abbreviations: CVS - chorionic villus sampling, IVF/PGD \u0026ndash; in vitro fertilisation with preimplantation genetic diagnosis, PND \u0026ndash; prenatal diagnosis, TOP \u0026ndash; termination of pregnancy\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003ctable border=\"0\" cellpadding=\"0\" cellspacing=\"0\" width=\"100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" valign=\"top\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eTable 3: Round 2 rankings\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" width=\"42.857142857142854%\"\u003e\n \u003cp\u003e\u003cstrong\u003eCODECS Outcome Domains and Outcome Descriptions\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" width=\"28.571428571428573%\"\u003e\n \u003cp\u003e\u003cstrong\u003ePatient Group\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd colspan=\"2\" width=\"28.571428571428573%\"\u003e\n \u003cp\u003e\u003cstrong\u003eHealth Professionals Group\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMean\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMedian\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMean\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"25%\"\u003e\n \u003cp\u003e\u003cstrong\u003eMedian\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 1 - Primary laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eCarrier and couple detection rates\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 2 - Secondary or incidental laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eIdentification of secondary or incidental findings\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 3 - Technical laboratory outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eTechnical laboratory outcomes \u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 4 - Uptake of services\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eUptake of RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eBarriers and facilitators to access and uptake of RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 5 - Genetic counselling resource use\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eUptake of post-test genetic counselling\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 6 - Further testing and reproductive decision-making\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eUptake of partner testing\u003csup\u003ea\u003c/sup\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eUptake of PND\u003csup\u003eb\u003c/sup\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eBarriers and facilitators related to further testing and reproductive decision\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eSupport needs when making reproductive decisions\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eReproductive decisions following an increased risk result\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 7 - Pregnancy outcomes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eResults of PND (CVS or amniocentesis)\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eRate of fetal loss following PND\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e2.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eDecision to continue or terminate a pregnancy identified to be affected through PND\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eResults of IVF/PGD utilised by increased risk couples in subsequent pregnancies\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 8 - Patient attitudes, perceptions and beliefs related to RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003ePatient perception that RGCS will inform their reproductive decisions (at the time of the screening offer)\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 9 - Deliberation and informed choice\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eInformed choice\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 10 - Knowledge and understanding\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003ePatient understanding of RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eRecall of screening result at a later timepoint\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e4.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eBarriers and facilitators influencing patients understanding of RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e4.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 11 - Psychological wellbeing\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003ePatient-reported anxiety\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eGrief and loss following an increased risk result\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eImpact of events (distress) following an increased risk result\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eUncertainty and resilience in patients following an increased risk result\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eImpact of results on patients perception of their own health\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eBarriers and facilitators to patients psychological and emotional wellbeing during RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 12 - Decision satisfaction and regret\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eDecisional satisfaction or regret related to RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 13 - Patient satisfaction with the processes of RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eSatisfaction with accessibility, cost and convenience of the screening process\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eSatisfaction that information needs have been met\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 14 - Familial implications\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eImpact of results on a couple\u0026rsquo;s relationship\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e5.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"5\" width=\"100%\"\u003e\n \u003cp\u003e\u003cstrong\u003eDomain 15 - Perceived utility of RGCS\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eReproductive empowerment\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd width=\"42.857142857142854%\"\u003e\n \u003cp\u003eAffected individuals born to patients who accessed RGCS\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e6.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd width=\"14.285714285714286%\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003e\u003csup\u003ea\u003c/sup\u003e relevant to specific study designs, \u003csup\u003eb\u003c/sup\u003e relevant to studies offering RGCS prenatally\u003c/p\u003e\n\u003cp\u003eAbbreviations: CVS - chorionic villus sampling, IVF/PGD \u0026ndash; in vitro fertilisation with preimplantation genetic diagnosis, PND \u0026ndash; prenatal diagnosis, TOP \u0026ndash; termination of pregnancy\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Reproductive genetic carrier screening, core outcome set, genetic counselling, genetic screening, Delphi survey ","lastPublishedDoi":"10.21203/rs.3.rs-2399263/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-2399263/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eUnderstanding the benefits of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. The assessment of outcomes is an important part of demonstrating these benefits. There is no current consensus about which outcomes are appropriate for the evaluation of genetic health interventions, including genetic testing and genetic counselling. The Core Outcome DEvelopment for Carrier Screening study has addressed this lack of guidance by undertaking a systematic approach to understanding the outcomes that can meaningfully capture the benefits of reproductive genetic carrier screening (RGCS). Herein, we report on a consensus process to determine the degree of consensus among Australian and New Zealand stakeholders regarding the core outcomes of RGCS. An iterative, two-round online Delphi survey was conducted. Panellists ranked 83 outcomes according to their perceived importance on a nine-point Likert scale. Using the distribution of rankings, outcomes were grouped into tiers representative of their perceived level of importance and agreement between groups. The top tier outcomes were agreed to be critically important for all future studies and were used to define a preliminary core outcome set encompassing the domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use and (4) perceived utility of RGCS. These findings will help to guide the selection of meaningful outcomes in studies aiming to evaluate the value of RGCS. A future international consensus process will expand on these findings and guide the inclusion of diverse perspectives across the range of settings in which RGCS is offered.\u003c/p\u003e","manuscriptTitle":"Defining Core Outcomes of Reproductive Genetic Carrier Screening: A Delphi survey of Australian and New Zealand stakeholders","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2022-12-22 21:38:09","doi":"10.21203/rs.3.rs-2399263/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"0aaac987-83d5-4f4d-946f-ddecda343ea4","owner":[],"postedDate":"December 22nd, 2022","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":17891964,"name":"Health sciences/Medical research/Genetics research"},{"id":17891965,"name":"Health sciences/Health care/Health services/Genetic services/Genetic testing"},{"id":17891966,"name":"Health sciences/Health care/Health services/Genetic services/Genetic counselling"}],"tags":[],"updatedAt":"2023-01-09T14:56:58+00:00","versionOfRecord":[],"versionCreatedAt":"2022-12-22 21:38:09","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-2399263","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-2399263","identity":"rs-2399263","version":["v1"]},"buildId":"GqpaHPwrfC8PjnIFayRh5","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}