{"paper_id":"0ab1ab9e-722f-49b8-bcf3-b2b2080c0fe2","body_text":"Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study | 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 Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia, and 8 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7389522/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 14 Feb, 2026 Read the published version in npj Genomic Medicine → Version 1 posted 9 You are reading this latest preprint version Abstract Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen+. Participants were surveyed and interviewed on the usability and value of Genetics Adviser. Genetics Adviser was used by 1048 participants and 1007 (96%) provided feedback. The majority (96%, n = 963) found the platform easy to navigate, with 85% (n = 851) spending < 20 minutes online. Participants demonstrated excellent understanding, over 80% answering at least 6/8 knowledge questions correctly. Only 7% (12/173) of participant-initiated contacts with the study team were for genetic counselling. Interview participants valued the online process. We demonstrate the successful use of a digital platform for a genomic screening program. This model is streamlined, providing consistent, user-friendly education to support decision-making with minimal input from healthcare practitioners. Further evaluation in diverse populations will be essential for future use. Biological sciences/Computational biology and bioinformatics Biological sciences/Genetics Health sciences/Health care Health sciences/Medical research Figures Figure 1 Figure 2 Figure 3 Figure 4 Introduction Digital platforms are increasingly used to support patient-centered healthcare by providing consistent yet adaptable information and empowering preference-sensitive decisions. 1 Genomic medicine is at the forefront of exploring digital solutions as it seeks to address the challenges of improving health literacy, supporting informed decision-making and creating efficient clinical workflows. 1 These challenges are magnified in screening applications. For example, newborn screening for rare disease is already established as a successful public health intervention and we now have the opportunity to incorporate genomic sequencing and rapidly expand existing programs to screen for hundreds more conditions. 2 While this would require a redesign of all steps of the NBS pathway, a key challenge is how to enable informed choices by parents. Traditional NBS programs operate on implied consent or consent obtained in the immediate post-partum period; however, a greater degree of proactive decision-making will be required if genomic sequencing is incorporated. Firstly, genomic sequencing and interpretation can produce uncertain results, for example identifying conditions where it is difficult to predict when and how symptoms manifest. Secondly, genomic results can have wide implications such as impacting ability to obtain insurance or identifying additional affected family members. And finally, genomic data are typically stored and could be re-interrogated in the future as part of clinical care or research. Hence the level of understanding required by participants in a genomic screening program may be higher than traditionally required in other types of population screening. Early pilots of genomic newborn screening (gNBS) have employed resource and staff-intensive models to provide education and decision-making support for parents, 3 which may not be scalable. Furthermore, many stakeholders, such as pregnancy care providers, do not feel adequately skilled in genomics to facilitate informed consent for gNBS. 4 , 5 Hence, alternative service delivery models need to be evaluated if gNBS is to be scaled to population level. Decision aids and online support tools have been proposed as a mechanism for scaling up education and decision support for population screening programs. They have been utilized in many areas of healthcare, particularly in the cancer setting. Many have been extensively evaluated, and the evidence is summarized in a Cochrane review. 6 Overall, decision support tools increase knowledge, decrease decision regret, and ensure people make decisions congruent with their own values. Consistency of information and the ability for individuals to tailor the amount of information to their own needs are additional benefits. They also provide a scalable solution to the limits of the genetic professionals workforce. 7 As genomic sequencing begins to demonstrate utility in population screening, the need to develop, implement, and evaluate scalable models becomes more urgent. 2 We utilised an online decision support tool for education, consent, and results provision for the BabyScreen + study, which piloted gNBS for 605 genes associated with severe, early-onset, treatable conditions in 1000 newborns. 8 The study deployed the interactive web-based digital health platform, Genetics Adviser. 9 The Genetics Adviser platform has been evaluated in other settings 10 and shown to augment genetic counselling and improve patient knowledge and decisional confidence while supporting service efficiency. 11 It was originally designed to provide decision support to patients undergoing genomic testing for diagnostic purposes who are then offered further analysis of the existing genomic data for additional screening. 12 It was expanded to support the clinical delivery of genomic testing, and is adaptable for multiple testing platforms, populations, and settings. 9 It has not previously been utilized in a population screening setting as a stand-alone tool. We provide a multi-methods evaluation of the platform in this setting, providing evidence of a scalable model for delivering genomics education and decision support. Results Demographics Overall, 1048 participants created a profile in Genetics Adviser and 1007 (96%) of these consented to gNBS and provided feedback on the use of the platform (Fig. 1 ). When compared to the age and sex-matched population of Victoria, Australia the participant sample was under-represented for younger parents, those where English was not the main language spoken at home, those living regionally, non-university educated, and of lower socioeconomic background. 8 Of the participants who created a profile in Genetics Adviser (n = 1048), the rate of not proceeding with gNBS was significantly higher for those under the age of 30 (OR 3·30 (1·78 − 6·11), p < 0·01) and those who already had one or more children (OR 0·51 (0·29 − 0·89), p < 0·05) (Table 1 and Supplementary Table 1). Table 1 Rate of not proceeding with genomic newborn screening after creating a profile in Genetics Adviser compared across different demographic characteristics (n = 1048). Proceeded with gNBS, n = 987 Did not proceed with gNBS, n = 61 a Total, n = 1048 Relative rate of not proceeding with gNBS Age Under 30 137 21 158 13%* 30 and above 850 40 890 4% Number of children 0 536 25 561 4% 1 or more 451 36 487 7%** English is the main language spoken at home Yes 890 50 940 5% No 97 11 108 10% Highest level of educational attainment High school, certificate, or diploma 180 20 200 10% Bachelor degree or higher 807 41 848 5% Index of Relative Socio-economic Advantage and Disadvantage Quintile 1 (most disadvantaged) 119 12 131 9% Quintile 2 126 14 140 10% Quintile 3 222 13 235 6% Quintile 4 252 10 262 4% Quintile 5 (most advantaged) 268 12 280 4% *p < 0·01, **p < 0·05 a This group includes participants who did not complete the study enrolment process, declined gNBS in the Genetics Adviser platform, initially consented to gNBS but withdrew consent before testing, and four participants who consented to gNBS but did not proceed with testing for other reasons (one fetal death in utero, three declined sample recollection). a Only participants who completed study enrolment more than four weeks prior to their due date (n = 522) were invited to complete the optional check-in. b This includes one participant who had a fetal death in utero, and three participants who declined sample recollection. c Genomic newborn screening was performed for a total of 1000 newborns including 13 sets of twins. Values clarification The values clarification questions were completed by 1029 participants and allowed categorization according to shared attributes, which was compared to their decision of whether to proceed with gNBS. Of this group, ‘enthusiasts’ made up 38% (387/1029) and ‘cautious’ 62% (642/1029). The relative likelihood of ‘cautious’ participants not proceeding with gNBS was 2·5 times higher than ‘enthusiasts’ (p < 0·05) (Table 2 ). Table 2 Participants’ values clarification results compared with their decision of whether to proceed with genomic newborn screening (n = 1029). Proceeded with gNBS Did not proceed with gNBS a Total Enthusiast 378 (98%) 9 (2%) 387 Cautious 609 (95%) 33 (5%) 642 Concerned 0 (0%) 0 (0%) 0 Total 987 (96%) 42 (4%) 1029 a This group includes four participants who consented to gNBS but ultimately did not proceed with testing (one fetal death in utero, three declined sample recollection). Use of Genetics Adviser Of the 1007 participants who provided feedback on Genetics Adviser, the majority (96%, n = 963) found it easy to use, with 85% (n = 851) reporting spending less than 20 minutes on the platform (Fig. 2 ). Over half (n = 560, 56%) felt the information presented was in favour of gNBS, while 43% (n = 433) felt it was balanced (Fig. 3 ). Eighty-eight percent (n = 879) of participants described the platform as helpful or very helpful in delivering information on gNBS (Fig. 3 ). Eighty-nine percent (n = 899) thought the amount of time spent on the platform was acceptable and 65% (n = 647) described using the platform as enjoyable. Almost all participants (97%, n = 972) found the values clarification questions easy to understand. Over 90% (n = 910) of participants were satisfied with the platform overall (Fig. 3 ). Knowledge Following the education components of the platform, over 80% (808/987) of participants whose newborns had gNBS answered six or more knowledge questions correctly, with 31% (303/987) of participants answering 8/8 questions correctly. Knowledge did not significantly change over time, with 87% (445/510) answering six or more questions correctly and 34% (171/510) answering 8/8 questions correctly three months post-result (Fig. 4 ). There was no significant difference between the matched scores of participants at enrolment when compared to three months post-result (n = 510, z = 1·69, p = 0·0914). The best understanding related to false negative and positive results and lowest understanding related to relevance of family history to gNBS and definition of treatability. Check-in and result recall The majority (67%, 271/404) of participants described feeling prepared or somewhat prepared for receiving their baby’s result when asked at the check-in point four weeks prior to their due date. Four participants withdrew consent for gNBS at the time of check-in, however, only two of these participants actively opened the check-in module. Result recall was accurate with only 4/510 participants being unsure of their baby’s gNBS result three months post-result, and only one participant incorrectly recalling that they received a low chance result when they had received a high chance result. Contacts A total of 886 contacts were recorded between the study team and 35% (457/1288) of participants who expressed interest in the study. The study team initiated 80% (713/886) of all contacts, the majority (60%, 427/713) related to enrolment progress. Of contacts initiated by participants only 7% (12/173) were for further counselling around gNBS with the most frequent queries relating to genomic data storage, privacy, and insurance implications. Interviews Twenty-two participants completed an interview, with two including partners. Interviewees described their perceptions of Genetics Adviser in relation to five categories: benefits of an online process, needing alternative options, utility of online content, level of information, and design. Interviewees valued the online process, primarily for pragmatic reasons. Some felt it was personally beneficial to access information online (Table 3 , quote 1). Others described it as an ‘efficient’ way to support gNBS delivery at population scale, maximizing access to comprehensive gNBS information, while minimizing expectations on healthcare providers (Table 3 , quotes 2,3). Table 3 Quotes from participant interviews. Category # Quote Benefits of an online process 1 Some people would say like why is everything online? But I think that’s actually better, easier. 2 If you’re doing it [gNBS] at population level, you need something pretty efficient. So it [an online process] probably works pretty well, doesn’t it?... I’m sure there would be people where a sit-down interview or counselling might be better, but realistically, at population level, you couldn’t do that, could you? 3 I think, as a healthcare provider [myself], it would be really, really complex to expect midwives, nurses, GPs to explain this information, or even obstetricians. That’s why I liked the Genetics Adviser platform as well, like plain language, but making it so everybody can kind of understand. Needing alternative options 4 Having the option to speak to someone about it is probably a pretty good fallback for anyone for whom the online information wasn’t quite enough. 5 I think that most people are fearful of things that they don't understand, so if you don't have someone sitting down and talking and offering and asking questions, well most people will just throw that piece of paper away. 6 I don’t know that it [the consent process] could be entirely online because there’s just some big questions around computer literacy and language literacy as well, then just science and medical literacy. 7 English might not be the first language for everyone…a lot of people might not even have the ability to interpret the information. Utility of online content 8 I was really just focused on just trying to understand what the study was and if it was something that I would be interested in. 9 Not that it [Genetics Adviser] would have changed our decision, but it kind of strengthened, I guess, the like informed consent part of it. 10 We focused more on what the steps and procedures [we] are going to take, and what sort of information we’re going to receive after we join the program, [rather] than the program itself. 11 I sort of read through everything and had my opinions and then I passed everything across to my husband because I think it’s our child, not [just] mine. Level of information 12 It was quite simple language, so there was no medical terminology or jargon that I struggled with. 13 I know that my friend that is also participating and she was like, “the feedback is that it’s too long and annoying for her to answer all those questions.” 14 The list [of conditions screened] is hilariously huge and well beyond my level of understanding…it’s good it was there but I think a lot of people wouldn’t do more than scroll past the page or two. 15 That [list of conditions] could have probably been a little bit more user friendly, maybe being broken down with some headings…maybe some explanation on what each condition is…I think that there probably needs to be more of an emphasis on support on the other end of that [a high chance result]. Design 16 There were quite a lot of steps to actually get to the list of the things that were being tested for…I felt like there were a few points where it was almost felt like they were hiding which conditions it actually was and I was like, “Just tell me the conditions please.” Interviewees acknowledged an online process may not be suitable or sufficient for everyone. They highlighted that discussion may be important in some contexts to provide personalized information, answer questions and facilitate trust (Table 3 , quotes 4,5). Alternative options will be particularly important for people with limited literacy or those who use languages other than English (Table 3 , quotes 6,7). Interviewees discussed the utility of online content for their decision making. While some used Genetics Adviser to help them decide (Table 3 , quote 8), many used it to reaffirm an already made decision (Table 3 , quote 9). Online content was used to access detailed information about processes, conditions screened, and post-result support (Table 3 , quote 10), and to facilitate discussions with partners (Table 3 , quote 11). Interviewees were generally satisfied with the amount of information and felt that it was understandable (Table 3 , quote 12). Some participants found the process too long (Table 3 , quote 13). Several interviewees raised that the list of conditions screened was long and complex (Table 3 , quote 14). They expressed the desire for more user-friendly information about conditions and potential post-result pathways (Table 3 , quote 15). Participant recollections of receiving a low chance result varied with some suggesting they were preoccupied with their newborn and could not fully recall the result notification process. Of those that remembered the experience, all supported the timing of result disclosure and found the online platform to be a convenient way to access the information. Overall, interviewees described the design of Genetics Adviser positively, using descriptors such as ‘easy’, ‘clean’, ‘efficient’, ‘user friendly’, and ‘aesthetically pleasing’. Navigation challenges reported related to the overall online process of BabyScreen+, rather than the Genetics Adviser platform (Table 3 , quote 16). Discussion We evaluated the use of a digital platform, Genetics Adviser, to support education, decision making, consent, and result return in a cohort of 1007 parents who consented to gNBS for their newborns. Our survey and interview data indicate high acceptability to families, with feedback highlighting the benefits of an efficient, flexible, family-centered method for informed consent. Our data indicate the model is scalable, with excellent knowledge retention among participants and low need for contact with genetic professionals. One of the advantages of an online platform is the ability to provide consistent and comprehensive information at scale. The ability to tailor information to an individual’s preferences supports value-congruent decision making. 13 Many participating in a pilot research program would describe themselves as ‘information seeking’. The platform provided the opportunity to access detailed or complex information such as a link out to a complete list of genes screened. Even with this function, participants spent considerably less time on the platform than we anticipate they would spend with a genetic counsellor face-to-face. 14 Knowledge, and the retention of knowledge, was high in participants in this study (Fig. 5) and prior evaluations of this platform. 14 This is consistent with evaluations of digital platforms and decision aids generally, which indicate better understanding of genetic testing that is maintained over time, 6 and improved knowledge regarding testing options. 6 This is in stark contrast with reports of participants understanding little or none of the information they received from clinician provided genomic test results in a screening setting. 15 This may demonstrate the ability of Genetics Adviser to engage families and contextualise the screening test and meaning of results. Only a single family incorrectly recalled their result. This was a high chance result, G6PD deficiency, that was delivered in person by a professional and recalled as a low chance result. This may reflect the nature of the condition where health problems can be avoided with preventative measures. The online consent model provides a clear benefit to workforce scalability. The existing genetics workforce is unable to meet the growing demand for services. 16 , 17 Introducing population wide genomic screening with traditional models would require decades of workforce expansion with ongoing education and training. In contrast, an online platform is adaptable and can be easily and routinely updated as program delivery or conditions screened evolve. Further, as programs scale, the incremental cost of using an online platform is relatively low. Therefore, we believe that online platforms and digital technology have a key role to play in the implementation of population-based genomic screening, reserving contact with health professionals to be targeted to where and when it is most needed. 18 This cohort, as with previously studied cohorts, 19 consistently have concerns regarding privacy and insurance, topics highly amenable to standardised written information. Our interview participants placed high value in having the ability to contact a professional if required, consistent with feedback from other online models; 20 however, very few needed to use this. Previous comparative studies between web-based platforms and in-person genetic counselling have demonstrated non-inferiority, indicating that a digital model is sufficient to support many genetic healthcare workflows. 21 Our model introduced some novel challenges, due to the separate timing of consent and testing. We offered gNBS during the third trimester of pregnancy, based on parental preferences 22 and prior experience from other studies which indicated parents find it difficult to engage with complex information and decision-making in the immediate postpartum period. 3 Participants reflected positively on this timing. We used a ‘check-in’ function to confirm choices for testing are maintained over time and consent is still valid at the time of sample collection. The value of this functionality was highlighted by four participants changing their mind about gNBS at the check-in point. While the use of online devices is now near ubiquitous, having the platform in a single language is a barrier to equity of access and this is a major limitation of the study. Strategies to develop multilingual options and culturally appropriate adaption of the platform are being considered and will be an important component of scaling these tools for population use. 23 However, this will not address access issues for everyone. Online options for genetic test results are preferred for convenience and time efficiency; 24 however, have not demonstrated benefits in addressing issues of equity to date. 25 This is further highlighted by the values clarification exercise in which no participants were classified as ‘concerned’, demonstrating that this study has captured a cohort that is more likely to be trusting in the healthcare system and research. Notably, there was significant under-representation of families whose main language spoken at home was not English compared to our general population. While interpreters were available to facilitate enrolment this was not directly advertised to participants and there was no uptake of this service. This highlights a need to raise awareness and trust in underrepresented groups, and to make the alternative options to access gNBS clear and accessible. Genomic population-scale screening programs will require independent infrastructure and explicit pathways to succeed. 26 The use of digital platforms provides a feasible model for how gNBS can sit outside of regular clinical workflows but integrate with the healthcare system. 27 Ease of participation is an important factor in uptake of a screening program and online information and consent is a key component that has demonstrated success in this cohort and others. 28 Implementing technology to support individual choices, quality care and service efficiencies will be an important component of scaling gNBS and other genomic screening programs but necessitates ongoing development and evaluation to ensure equitable outcomes. Methods The BabyScreen + study The protocol and main outcomes of the BabyScreen + study are described in detail elsewhere. 8 , 29 Briefly, BabyScreen + provided gNBS to 1000 infants in Victoria, Australia. Consent was provided during the third trimester of pregnancy. Prospective birth parents were invited to enrol via the Genetics Adviser platform either actively, through pregnancy care providers (obstetricians, midwifes or general practitioners), or passively, through advertising (posters and videos in waiting rooms, flyers in pregnancy care packs, social media, pregnancy app and text messages). Clinically accredited whole genome sequencing was performed on dried blood spot cards collected for standard NBS. Screening was targeted to disease-causing variants in 605 genes associated with severe, early-onset, treatable conditions. 30 Results were available, on average, 13 days after receipt of sample. 8 Low chance results were provided via Genetics Adviser when no disease-causing variants were identified. High chance results, when a disease-causing variant was identified, were provided by phone by a study genetic counsellor. Design of Genetics Adviser The Genetics Adviser platform was used for education, decision support, capturing consent, and delivery of test results. Content was tailored for BabyScreen + based on previous experience using the platform for additional findings in the pediatric rare disease setting 31 and was piloted on people in the general population prior to use. It comprised a dynamic learning experience for pre-test education, short animations and case vignettes, values clarification through a short question and answer section, expandable tabs to control the amount of information, and a consent and return of results page. Participants could access the list of genes and associated conditions being screened in the study via a web link in Genetics Adviser. The platform was designed to be accessed via QR code or URL on any device capable of internet connection. Participants were required to register using their email address to access the platform. Participants progressed through the education content on gNBS and values clarification questions before deciding whether to provide clinical consent to gNBS for their baby. A ‘check-in’ function was included to ensure ongoing informed consent just prior to birth; participants who provided consent for testing received an automated reminder about the study four weeks prior to their due date via email and SMS. This invited them to log back into Genetics Adviser, where they received a brief refresher on gNBS and had the option to review their gNBS consent. For low chance results, participants were notified via email and SMS that their baby’s result was available in Genetics Adviser. They were prompted to log back into the platform and were provided with a fact sheet, which summarised the salient points about the nature of the screening and reminded them that genomic data is stored and available for further clinical use. Participants had telephone and email access to genetic counsellors throughout the study. The Genetics Adviser platform was only available in English; however, interpreters were available for any participant upon request to facilitate enrolment, consent, and return of results in their preferred language. Evaluation and analysis A multi-methods approach was used for evaluation. Participants completed a survey at the time of enrolment, and those whose newborns had gNBS were invited to complete an optional survey three months post-result. At enrolment, in addition to demographic information, the participant experience of using the Genetics Adviser platform was evaluated. The Acceptability e-Scale 32 was used for this, including: time spent on the platform, ease of use, clarity and helpfulness of the information, bias of information for/against gNBS, and overall satisfaction. The survey at enrolment also included a knowledge assessment which was repeated three months post-result; participants were presented with eight statements about gNBS and asked to indicate whether they were true, false, or unsure. The values clarification exercise comprised six short statements presenting potential outcomes of gNBS and asked participants to indicate if these would be ‘helpful’, ‘not helpful’, or ‘unsure’. This was designed to ascertain the predicted value and impact of screening to each family. Based on their responses, the Genetics Adviser platform categorised participants into established profiles; 33 ‘enthusiasts’, ‘cautious,’ or ‘concerned’ about gNBS for their newborn. Participants who answered ‘helpful’ or ‘not helpful’ to all six questions were categorised as ‘enthusiasts’ and ‘concerned’ respectively, and those who answered with of mix of ‘helpful’, ‘not helpful’, and/or ‘unsure’ responses were categorized as ‘cautious’. Participants were provided with a tailored information summary depending on which profile they were categorised into. The optional check-in function contained one multiple choice question to ascertain participants’ preparedness to receive their baby’s gNBS result. Result recall was measured at three months post-result. Information regarding participant contacts with the study team was recorded in a Research Electronic Data Capture (REDCap) database by study genetic counsellors. A random sample of participants were invited to participate in an interview after consent for testing but prior to results being issued. Semi-structured interviews about experiences of being offered BabyScreen+, the decision-making and online processes were conducted via Zoom or telephone and audio-recorded for transcription. An external transcription company transcribed recordings verbatim and identifying details were removed. All survey data analysis was completed using Stata SE18 and Microsoft Excel. Fisher’s exact test was utilised to examine differences in the proportion of ‘enthusiasts’ and ‘cautious’ participants who proceeded with gNBS. A Wilcoxon signed-rank test was run to explore if there was a significant change in knowledge across time points. For all qualitative data, free-text survey responses, and interview transcripts, Microsoft Excel or NVivo were used to organise data and facilitate analysis. All data related to Genetics Adviser was identified in the transcripts and an inductive content analysis approach was utilized. This involved open coding to identify key concepts and patterns in the data which were then grouped into broader categories. Declarations Ethical approval The BabyScreen+ study is governed and administered by the Murdoch Children’s Research Institute (MCRI), Melbourne, Australia and received ethics approval from The Royal Children’s Hospital Melbourne Human Research Ethics Committee (HREC/91500/RCHM-2023). Funding The BabyScreen+ study was funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission (MRF2015937). Research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The funder of the study had no role in study design, data collection, data analysis, data interpretation, or writing of the report. Data availability Deidentified individual participant data that underlie the results reported in this Article and a data dictionary are available after publication upon reasonable request. To request access to the data, please email the Principal Investigators of the study, Sebastian Lunke ( [email protected] ) and Zornitza Stark ( [email protected] ). Data are located in controlled access data storage at MCRI. Author Contributions ZS and SL were responsible for study conception, funding acquisition and oversight of the study. ZS, SL, LD, JC, SB, CG, ADA, ET, and AKP contributed to the design of the study. YB and MC developed the Genetics Adviser platform, and YB, MC, ZS, SL, JC, LD, SB, CG, and ADA contributed to the adaption of the platform for the BabyScreen+ study. SL, ZS, NK, ET, and AKP developed the data analysis plan. NK, JC, SL, ET, and AKP contributed to data analysis and interpretation and have verified the data. LD, ZS, JC, and NK drafted the manuscript. All authors critically revised the manuscript and provided final approval of the version to be published. All authors had full access to all the data in the study. All authors had final responsibility for the decision to submit for publication. Competing interests Yvonne Bombard and Marc Clausen are co-founders of the Genetics Adviser platform.The other authors have no conflicts of interest to declare. References Bombard, Y., Ginsburg, G.S., Sturm, A.C., Zhou, A.Y. & Lemke, A.A. Digital health-enabled genomics: Opportunities and challenges. Am J Hum Genet 109 , 1190-1198 (2022). Stark, Z. & Scott, R.H. Genomic newborn screening for rare diseases. Nat Rev Genet (2023). Genetti, C.A. et al. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med 21 , 622-630 (2019). Wright, H., Zhao, L., Birks, M. & Mills, J. Genomic Literacy of Registered Nurses and Midwives in Australia: A Cross-Sectional Survey. J Nurs Scholarsh 51 , 40-49 (2019). Tutty, E. et al. Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework. Eur J Hum Genet 32 , 1599-1605 (2024). Stacey, D. et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev 4 , Cd001431 (2017). Whiwon, L. et al. Patient-facing digital tools for delivering genetic services: a systematic review. J Med Genet 60 , 1-10 (2023). Lunke, S. et al. Genomic newborn screening: feasibility, acceptability and clinical outcomes Nature Medicine In press (2025). Clausen, M. et al. Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing. Genet Med Open 2 , 101814 (2024). Casalino, S. et al. A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study. Genet Med 26 , 101272 (2024). Pereira, S. et al. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics 143 , S6-s13 (2019). Shickh, S. et al. Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. BMJ Open 8 , e021876 (2018). Shickh, S. et al. The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. Genet Med 23 , 1086-1094 (2021). Bombard, Y. et al. Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial. Genet Med 22 , 727-735 (2020). Halverson, C.M. et al. What Results Should Be Returned from Opportunistic Screening in Translational Research? J Pers Med 10 (2020). Fennell, A.P., Hunter, M.F. & Corboy, G.P. The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service. Genet Med 22 , 210-218 (2020). Flannery, D.B. Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system. Curr Opin Pediatr 30 , 740-745 (2018). Carroll, J.C. et al. Anticipating the primary care role in genomic medicine: expectations of genetics health professionals. J Community Genet 12 , 559-568 (2021). Tiller, J.M. et al. Public willingness to participate in population DNA screening in Australia. J Med Genet 60 , 662-668 (2023). Adam, S. et al. Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions. J Genet Couns (2018). Biesecker, B.B. et al. Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. JAMA Intern Med 178 , 338-346 (2018). Pinel, J., Bellanger, A., Jamet, C. & Moreau, C. Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion. Int J Neonatal Screen 9 (2023). Assamad, D. et al. Digital Health Tools in Genomics: Advancing Diversity, Equity, and Inclusion. Public Health Genomics 26 , 194-200 (2023). Gaieski, J.B. et al. Research participants' experiences with return of genetic research results and preferences for web-based alternatives. Mol Genet Genomic Med 7 , e898 (2019). Kilbride, M. et al. Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education. J Clin Oncol 41 , 4905-4915 (2023). Twum, S., Fosu, K., Felder, R.A. & Sarpong, K.A.N. Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa. Afr J Lab Med 12 , 2225 (2023). Levin, T.R. et al. Organized colorectal cancer screening in integrated health care systems. Epidemiol Rev 33 , 101-10 (2011). Peay, H.L. et al. Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study. Front Genet 13 , 891592 (2022). Lunke, S. et al. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol. BMJ Open 14 , e081426 (2024). Downie, L. et al. Gene selection for genomic newborn screening: Moving toward consensus? Genet Med 26 , 101077 (2024). Martyn, M. et al. Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes. Genet Med 27 , 101327 (2025). Tariman, J.D., Berry, D.L., Halpenny, B., Wolpin, S. & Schepp, K. Validation and testing of the Acceptability E-scale for web-based patient-reported outcomes in cancer care. Appl Nurs Res 24 , 53-8 (2011). Mighton, C. et al. Development of patient \"profiles\" to tailor counseling for incidental genomic sequencing results. Eur J Hum Genet 27 , 1008-1017 (2019). Additional Declarations Competing interest reported. Yvonne Bombard and Marc Clausen are co-founders of the Genetics Adviser platform. The other authors have no conflicts of interest to declare. Supplementary Files SupplementaryAppendixnpj.pdf Cite Share Download PDF Status: Published Journal Publication published 14 Feb, 2026 Read the published version in npj Genomic Medicine → Version 1 posted Editorial decision: Revision requested 14 Oct, 2025 Reviews received at journal 14 Oct, 2025 Reviews received at journal 24 Sep, 2025 Reviewers agreed at journal 09 Sep, 2025 Reviewers agreed at journal 02 Sep, 2025 Reviewers invited by journal 02 Sep, 2025 Editor assigned by journal 26 Aug, 2025 Submission checks completed at journal 22 Aug, 2025 First submitted to journal 16 Aug, 2025 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 Advisory Board 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-7389522\",\"acceptedTermsAndConditions\":true,\"allowDirectSubmit\":false,\"archivedVersions\":[],\"articleType\":\"Article\",\"associatedPublications\":[],\"authors\":[{\"id\":510079164,\"identity\":\"c4915de9-af80-4137-bea3-7763d4cbb611\",\"order_by\":0,\"name\":\"Lilian Downie\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children's Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Lilian\",\"middleName\":\"\",\"lastName\":\"Downie\",\"suffix\":\"\"},{\"id\":510079165,\"identity\":\"ad506660-b90a-4b37-becd-a3cdf9abd542\",\"order_by\":1,\"name\":\"Jade Caruana\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Jade\",\"middleName\":\"\",\"lastName\":\"Caruana\",\"suffix\":\"\"},{\"id\":510079166,\"identity\":\"717b3b22-48a5-48c8-abef-fa367ba9b58c\",\"order_by\":2,\"name\":\"Nathasha Kugenthiran\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Nathasha\",\"middleName\":\"\",\"lastName\":\"Kugenthiran\",\"suffix\":\"\"},{\"id\":510079167,\"identity\":\"1e598bf1-b0f5-44a1-9c2d-f4bb455ae47a\",\"order_by\":3,\"name\":\"Anaita Kanga-Parabia\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Anaita\",\"middleName\":\"\",\"lastName\":\"Kanga-Parabia\",\"suffix\":\"\"},{\"id\":510079168,\"identity\":\"a69d5589-cfd2-452b-a939-74c43f28035f\",\"order_by\":4,\"name\":\"Erin Tutty\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Erin\",\"middleName\":\"\",\"lastName\":\"Tutty\",\"suffix\":\"\"},{\"id\":510079169,\"identity\":\"07e3d40b-ac5f-4b36-a1c3-fd255c234a5a\",\"order_by\":5,\"name\":\"Yvonne Bombard\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"University of Toronto\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Yvonne\",\"middleName\":\"\",\"lastName\":\"Bombard\",\"suffix\":\"\"},{\"id\":510079170,\"identity\":\"d4b8f371-206f-492c-9bb1-fbc920633e9a\",\"order_by\":6,\"name\":\"Marc Clausen\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"St Michael’s Hospital, Unity Health Toronto\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Marc\",\"middleName\":\"\",\"lastName\":\"Clausen\",\"suffix\":\"\"},{\"id\":510079171,\"identity\":\"fe62a260-fff1-44cf-96a1-393224e32456\",\"order_by\":7,\"name\":\"Sophie Bouffler\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Sophie\",\"middleName\":\"\",\"lastName\":\"Bouffler\",\"suffix\":\"\"},{\"id\":510079172,\"identity\":\"32d55640-1fe9-4c8b-b0bf-dd1973f41810\",\"order_by\":8,\"name\":\"Clara Gaff\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children’s Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Clara\",\"middleName\":\"\",\"lastName\":\"Gaff\",\"suffix\":\"\"},{\"id\":510079173,\"identity\":\"70b01ce1-c12d-4bf0-9b6d-d63a56731bac\",\"order_by\":9,\"name\":\"Alison D. Archibald\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Australian Genomics, Murdoch Children’s Research Institute, Royal Children’s Hospital\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Alison\",\"middleName\":\"D.\",\"lastName\":\"Archibald\",\"suffix\":\"\"},{\"id\":510079175,\"identity\":\"331b1423-2762-465a-b27a-aff7f2fca098\",\"order_by\":10,\"name\":\"Sebastian Lunke\",\"email\":\"\",\"orcid\":\"\",\"institution\":\"Murdoch Children's Research Institute\",\"correspondingAuthor\":false,\"prefix\":\"\",\"firstName\":\"Sebastian\",\"middleName\":\"\",\"lastName\":\"Lunke\",\"suffix\":\"\"},{\"id\":510079176,\"identity\":\"50f291d0-7d49-40a7-85ae-c1003ba6041d\",\"order_by\":11,\"name\":\"Zornitza Stark\",\"email\":\"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAABDElEQVRIie3QsUrEMBjA8a8EOgWypkv7CjkERTj1VVICfQYHLZnORenaN7iXcEgpNEvw1sgtOYSbHCou52avB3cIrXqbSP5DyPD9+EgAfL6/Gt/f1PS3pDdoS7Kj1vSk/nk4uXtYu9UmT4Asqvdrs0iLYu7g7fEWSMkHSXCvzxjn4URSgSJjl2lpX1lQrjVQO0wQzULKOQ4kRRDJdnnCqAGEVQMwQsIdoVeS1OhDtk8d0a4nyQjBO8JSCSKMpFUxI5J15AbYCKG46UjGxYyK03NpREwtZlWpFJ4YN/JjszDaTPOLglQvz7K5xKTQK9eqPI718JbDow6LOSiAGn8//yWitmd+hPD5fL5/3icD7VyZDImpxwAAAABJRU5ErkJggg==\",\"orcid\":\"\",\"institution\":\"Murdoch Children's Research Institute\",\"correspondingAuthor\":true,\"prefix\":\"\",\"firstName\":\"Zornitza\",\"middleName\":\"\",\"lastName\":\"Stark\",\"suffix\":\"\"}],\"badges\":[],\"createdAt\":\"2025-08-16 21:38:08\",\"currentVersionCode\":1,\"declarations\":\"\",\"doi\":\"10.21203/rs.3.rs-7389522/v1\",\"doiUrl\":\"https://doi.org/10.21203/rs.3.rs-7389522/v1\",\"draftVersion\":[],\"editorialEvents\":[{\"content\":\"https://doi.org/10.1038/s41525-026-00551-6\",\"type\":\"published\",\"date\":\"2026-02-14T15:59:01+00:00\"}],\"editorialNote\":\"\",\"failedWorkflow\":false,\"files\":[{\"id\":90883887,\"identity\":\"28d891ae-3109-4404-bfd6-1660ee980250\",\"added_by\":\"auto\",\"created_at\":\"2025-09-09 09:56:06\",\"extension\":\"png\",\"order_by\":1,\"title\":\"Figure 1\",\"display\":\"\",\"copyAsset\":false,\"role\":\"figure\",\"size\":168434,\"visible\":true,\"origin\":\"\",\"legend\":\"\\u003cp\\u003e\\u003cem\\u003e\\u003cstrong\\u003eParticipation in the BabyScreen+ study.\\u003c/strong\\u003e\\u003c/em\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cem\\u003e\\u003cstrong\\u003e\\u0026nbsp;\\u003c/strong\\u003e\\u003c/em\\u003e\\u003csup\\u003e\\u003cem\\u003ea \\u003c/em\\u003e\\u003c/sup\\u003e\\u003cem\\u003eOnly participants who completed study enrolment more than four weeks prior to their due date (n=522) were invited to complete the optional check-in.\\u003c/em\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003csup\\u003e\\u003cem\\u003eb \\u003c/em\\u003e\\u003c/sup\\u003e\\u003cem\\u003eThis includes one participant who had a fetal death in utero, and three participants who declined sample recollection.\\u003c/em\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003csup\\u003e\\u003cem\\u003ec\\u003c/em\\u003e\\u003c/sup\\u003e\\u003cem\\u003e Genomic newborn screening was performed for a total of 1000 newborns including 13 sets of twins.\\u003c/em\\u003e\\u003c/p\\u003e\",\"description\":\"\",\"filename\":\"1.png\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/e6b3ba98442ac9b4de951b4a.png\"},{\"id\":90883886,\"identity\":\"bc1149ed-a52e-4056-ac19-8f2e8b8c6d5f\",\"added_by\":\"auto\",\"created_at\":\"2025-09-09 09:56:06\",\"extension\":\"png\",\"order_by\":2,\"title\":\"Figure 2\",\"display\":\"\",\"copyAsset\":false,\"role\":\"figure\",\"size\":35118,\"visible\":true,\"origin\":\"\",\"legend\":\"\\u003cp\\u003e\\u003cem\\u003e\\u003cstrong\\u003eParticipant-reported time spent on the Genetics Adviser platform (n=1007).\\u003c/strong\\u003e\\u003c/em\\u003e\\u003c/p\\u003e\",\"description\":\"\",\"filename\":\"2.png\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/0d9a7f64f401b6427f3013e8.png\"},{\"id\":90883884,\"identity\":\"dd9d6b71-9dd2-4b01-9d86-a659dd46fba1\",\"added_by\":\"auto\",\"created_at\":\"2025-09-09 09:56:06\",\"extension\":\"png\",\"order_by\":3,\"title\":\"Figure 3\",\"display\":\"\",\"copyAsset\":false,\"role\":\"figure\",\"size\":128487,\"visible\":true,\"origin\":\"\",\"legend\":\"\\u003cp\\u003e\\u003cem\\u003e\\u003cstrong\\u003eParticipant perspectives of the BabyScreen+ Genetics Adviser platform (n=1007).\\u003c/strong\\u003e\\u003c/em\\u003e\\u003c/p\\u003e\",\"description\":\"\",\"filename\":\"3.png\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/b43d47c6671c1b1c0bb09ea8.png\"},{\"id\":90885200,\"identity\":\"85e875b4-cd0b-4ed4-8f4b-7db8e8c04a95\",\"added_by\":\"auto\",\"created_at\":\"2025-09-09 10:04:06\",\"extension\":\"png\",\"order_by\":4,\"title\":\"Figure 4\",\"display\":\"\",\"copyAsset\":false,\"role\":\"figure\",\"size\":60659,\"visible\":true,\"origin\":\"\",\"legend\":\"\\u003cp\\u003e\\u003cem\\u003e\\u003cstrong\\u003eKnowledge scores for participants at enrolment and three months after receiving results.\\u003c/strong\\u003e\\u003c/em\\u003e\\u003c/p\\u003e\",\"description\":\"\",\"filename\":\"4.png\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/aeebcc8b6355eff02375871e.png\"},{\"id\":102786147,\"identity\":\"5cc7cfcb-3993-4d62-b888-98973e11cd24\",\"added_by\":\"auto\",\"created_at\":\"2026-02-16 16:12:02\",\"extension\":\"pdf\",\"order_by\":0,\"title\":\"\",\"display\":\"\",\"copyAsset\":false,\"role\":\"manuscript-pdf\",\"size\":1330117,\"visible\":true,\"origin\":\"\",\"legend\":\"\",\"description\":\"\",\"filename\":\"manuscript.pdf\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/6be5f9b1-4b6d-4374-982f-15084ee2e9c4.pdf\"},{\"id\":90883885,\"identity\":\"230719cf-cac4-4262-b8f6-014695458b23\",\"added_by\":\"auto\",\"created_at\":\"2025-09-09 09:56:06\",\"extension\":\"pdf\",\"order_by\":0,\"title\":\"\",\"display\":\"\",\"copyAsset\":false,\"role\":\"supplement\",\"size\":158644,\"visible\":true,\"origin\":\"\",\"legend\":\"\",\"description\":\"\",\"filename\":\"SupplementaryAppendixnpj.pdf\",\"url\":\"https://assets-eu.researchsquare.com/files/rs-7389522/v1/32fed1073eb42f9a0b67853e.pdf\"}],\"financialInterests\":\"Competing interest reported. Yvonne Bombard and Marc Clausen are co-founders of the Genetics Adviser platform. The other authors have no conflicts of interest to declare.\",\"formattedTitle\":\"Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study\",\"fulltext\":[{\"header\":\"Introduction\",\"content\":\"\\u003cp\\u003eDigital platforms are increasingly used to support patient-centered healthcare by providing consistent yet adaptable information and empowering preference-sensitive decisions.\\u003csup\\u003e\\u003cspan citationid=\\\"CR1\\\" class=\\\"CitationRef\\\"\\u003e1\\u003c/span\\u003e\\u003c/sup\\u003e Genomic medicine is at the forefront of exploring digital solutions as it seeks to address the challenges of improving health literacy, supporting informed decision-making and creating efficient clinical workflows.\\u003csup\\u003e\\u003cspan citationid=\\\"CR1\\\" class=\\\"CitationRef\\\"\\u003e1\\u003c/span\\u003e\\u003c/sup\\u003e\\u003c/p\\u003e\\u003cp\\u003eThese challenges are magnified in screening applications. For example, newborn screening for rare disease is already established as a successful public health intervention and we now have the opportunity to incorporate genomic sequencing and rapidly expand existing programs to screen for hundreds more conditions.\\u003csup\\u003e\\u003cspan citationid=\\\"CR2\\\" class=\\\"CitationRef\\\"\\u003e2\\u003c/span\\u003e\\u003c/sup\\u003e While this would require a redesign of all steps of the NBS pathway, a key challenge is how to enable informed choices by parents. Traditional NBS programs operate on implied consent or consent obtained in the immediate post-partum period; however, a greater degree of proactive decision-making will be required if genomic sequencing is incorporated. Firstly, genomic sequencing and interpretation can produce uncertain results, for example identifying conditions where it is difficult to predict when and how symptoms manifest. Secondly, genomic results can have wide implications such as impacting ability to obtain insurance or identifying additional affected family members. And finally, genomic data are typically stored and could be re-interrogated in the future as part of clinical care or research. Hence the level of understanding required by participants in a genomic screening program may be higher than traditionally required in other types of population screening. Early pilots of genomic newborn screening (gNBS) have employed resource and staff-intensive models to provide education and decision-making support for parents,\\u003csup\\u003e\\u003cspan citationid=\\\"CR3\\\" class=\\\"CitationRef\\\"\\u003e3\\u003c/span\\u003e\\u003c/sup\\u003e which may not be scalable. Furthermore, many stakeholders, such as pregnancy care providers, do not feel adequately skilled in genomics to facilitate informed consent for gNBS.\\u003csup\\u003e\\u003cspan citationid=\\\"CR4\\\" class=\\\"CitationRef\\\"\\u003e4\\u003c/span\\u003e,\\u003cspan citationid=\\\"CR5\\\" class=\\\"CitationRef\\\"\\u003e5\\u003c/span\\u003e\\u003c/sup\\u003e Hence, alternative service delivery models need to be evaluated if gNBS is to be scaled to population level.\\u003c/p\\u003e\\u003cp\\u003eDecision aids and online support tools have been proposed as a mechanism for scaling up education and decision support for population screening programs. They have been utilized in many areas of healthcare, particularly in the cancer setting. Many have been extensively evaluated, and the evidence is summarized in a Cochrane review.\\u003csup\\u003e\\u003cspan citationid=\\\"CR6\\\" class=\\\"CitationRef\\\"\\u003e6\\u003c/span\\u003e\\u003c/sup\\u003e Overall, decision support tools increase knowledge, decrease decision regret, and ensure people make decisions congruent with their own values. Consistency of information and the ability for individuals to tailor the amount of information to their own needs are additional benefits. They also provide a scalable solution to the limits of the genetic professionals workforce.\\u003csup\\u003e\\u003cspan citationid=\\\"CR7\\\" class=\\\"CitationRef\\\"\\u003e7\\u003c/span\\u003e\\u003c/sup\\u003e As genomic sequencing begins to demonstrate utility in population screening, the need to develop, implement, and evaluate scalable models becomes more urgent.\\u003csup\\u003e\\u003cspan citationid=\\\"CR2\\\" class=\\\"CitationRef\\\"\\u003e2\\u003c/span\\u003e\\u003c/sup\\u003e\\u003c/p\\u003e\\u003cp\\u003eWe utilised an online decision support tool for education, consent, and results provision for the BabyScreen\\u0026thinsp;+\\u0026thinsp;study, which piloted gNBS for 605 genes associated with severe, early-onset, treatable conditions in 1000 newborns.\\u003csup\\u003e\\u003cspan citationid=\\\"CR8\\\" class=\\\"CitationRef\\\"\\u003e8\\u003c/span\\u003e\\u003c/sup\\u003e The study deployed the interactive web-based digital health platform, Genetics Adviser.\\u003csup\\u003e\\u003cspan citationid=\\\"CR9\\\" class=\\\"CitationRef\\\"\\u003e9\\u003c/span\\u003e\\u003c/sup\\u003e The Genetics Adviser platform has been evaluated in other settings\\u003csup\\u003e\\u003cspan citationid=\\\"CR10\\\" class=\\\"CitationRef\\\"\\u003e10\\u003c/span\\u003e\\u003c/sup\\u003e and shown to augment genetic counselling and improve patient knowledge and decisional confidence while supporting service efficiency.\\u003csup\\u003e\\u003cspan citationid=\\\"CR11\\\" class=\\\"CitationRef\\\"\\u003e11\\u003c/span\\u003e\\u003c/sup\\u003e It was originally designed to provide decision support to patients undergoing genomic testing for diagnostic purposes who are then offered further analysis of the existing genomic data for additional screening.\\u003csup\\u003e\\u003cspan citationid=\\\"CR12\\\" class=\\\"CitationRef\\\"\\u003e12\\u003c/span\\u003e\\u003c/sup\\u003e It was expanded to support the clinical delivery of genomic testing, and is adaptable for multiple testing platforms, populations, and settings.\\u003csup\\u003e\\u003cspan citationid=\\\"CR9\\\" class=\\\"CitationRef\\\"\\u003e9\\u003c/span\\u003e\\u003c/sup\\u003e It has not previously been utilized in a population screening setting as a stand-alone tool. We provide a multi-methods evaluation of the platform in this setting, providing evidence of a scalable model for delivering genomics education and decision support.\\u003c/p\\u003e\"},{\"header\":\"Results\",\"content\":\"\\u003cdiv id=\\\"Sec3\\\" class=\\\"Section2\\\"\\u003e\\u003ch2\\u003eDemographics\\u003c/h2\\u003e\\u003cp\\u003eOverall, 1048 participants created a profile in Genetics Adviser and 1007 (96%) of these consented to gNBS and provided feedback on the use of the platform (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig1\\\" class=\\\"InternalRef\\\"\\u003e1\\u003c/span\\u003e). When compared to the age and sex-matched population of Victoria, Australia the participant sample was under-represented for younger parents, those where English was not the main language spoken at home, those living regionally, non-university educated, and of lower socioeconomic background.\\u003csup\\u003e\\u003cspan citationid=\\\"CR8\\\" class=\\\"CitationRef\\\"\\u003e8\\u003c/span\\u003e\\u003c/sup\\u003e\\u003c/p\\u003e\\u003cp\\u003eOf the participants who created a profile in Genetics Adviser (n\\u0026thinsp;=\\u0026thinsp;1048), the rate of not proceeding with gNBS was significantly higher for those under the age of 30 (OR 3\\u0026middot;30 (1\\u0026middot;78\\u0026thinsp;\\u0026minus;\\u0026thinsp;6\\u0026middot;11), p\\u0026thinsp;\\u0026lt;\\u0026thinsp;0\\u0026middot;01) and those who already had one or more children (OR 0\\u0026middot;51 (0\\u0026middot;29\\u0026thinsp;\\u0026minus;\\u0026thinsp;0\\u0026middot;89), p\\u0026thinsp;\\u0026lt;\\u0026thinsp;0\\u0026middot;05) (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab1\\\" class=\\\"InternalRef\\\"\\u003e1\\u003c/span\\u003e and Supplementary Table\\u0026nbsp;1).\\u003c/p\\u003e\\u003cp\\u003e\\u003cdiv class=\\\"gridtable\\\"\\u003e\\u003ctable float=\\\"Yes\\\" id=\\\"Tab1\\\" border=\\\"1\\\"\\u003e\\u003ccaption language=\\\"En\\\"\\u003e\\u003cdiv class=\\\"CaptionNumber\\\"\\u003eTable 1\\u003c/div\\u003e\\u003cdiv class=\\\"CaptionContent\\\"\\u003e\\u003cp\\u003eRate of not proceeding with genomic newborn screening after creating a profile in Genetics Adviser compared across different demographic characteristics (n\\u0026thinsp;=\\u0026thinsp;1048).\\u003c/p\\u003e\\u003c/div\\u003e\\u003c/caption\\u003e\\u003ccolgroup cols=\\\"5\\\"\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c1\\\" colnum=\\\"1\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c2\\\" colnum=\\\"2\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c3\\\" colnum=\\\"3\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c4\\\" colnum=\\\"4\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c5\\\" colnum=\\\"5\\\"\\u003e\\u003c/div\\u003e\\u003cthead\\u003e\\u003ctr\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u0026nbsp;\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003eProceeded with gNBS, n\\u0026thinsp;=\\u0026thinsp;987\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eDid not proceed with gNBS, n\\u0026thinsp;=\\u0026thinsp;61\\u003csup\\u003ea\\u003c/sup\\u003e\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003eTotal, n\\u0026thinsp;=\\u0026thinsp;1048\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003eRelative rate of not proceeding with gNBS\\u003c/p\\u003e\\u003c/th\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003cth align=\\\"left\\\" colspan=\\\"5\\\" nameend=\\\"c5\\\" namest=\\\"c1\\\"\\u003e\\u003cp\\u003eAge\\u003c/p\\u003e\\u003c/th\\u003e\\u003c/tr\\u003e\\u003c/thead\\u003e\\u003ctbody\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eUnder 30\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e137\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e21\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e158\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e13%*\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e30 and above\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e850\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e40\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e890\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e4%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colspan=\\\"5\\\" nameend=\\\"c5\\\" namest=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eNumber of children\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e0\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e536\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e25\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e561\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e4%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e1 or more\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e451\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e36\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e487\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e7%**\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colspan=\\\"5\\\" nameend=\\\"c5\\\" namest=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eEnglish is the main language spoken at home\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eYes\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e890\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e50\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e940\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e5%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eNo\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e97\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e11\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e108\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e10%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colspan=\\\"5\\\" nameend=\\\"c5\\\" namest=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eHighest level of educational attainment\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eHigh school, certificate, or diploma\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e180\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e20\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e200\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e10%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eBachelor degree or higher\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e807\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e41\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e848\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e5%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colspan=\\\"5\\\" nameend=\\\"c5\\\" namest=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eIndex of Relative Socio-economic Advantage and Disadvantage\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eQuintile 1 (most disadvantaged)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e119\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e12\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e131\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e9%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eQuintile 2\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e126\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e14\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e140\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e10%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eQuintile 3\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e222\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e13\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e235\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e6%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eQuintile 4\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e252\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e10\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e262\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e4%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eQuintile 5 (most advantaged)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e268\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e12\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e280\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c5\\\"\\u003e\\u003cp\\u003e4%\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003c/tbody\\u003e\\u003c/colgroup\\u003e\\u003ctfoot\\u003e\\u003ctr\\u003e\\u003ctd colspan=\\\"5\\\"\\u003e*p\\u0026thinsp;\\u0026lt;\\u0026thinsp;0\\u0026middot;01, **p\\u0026thinsp;\\u0026lt;\\u0026thinsp;0\\u0026middot;05\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd colspan=\\\"5\\\"\\u003e\\u003csup\\u003ea\\u003c/sup\\u003e This group includes participants who did not complete the study enrolment process, declined gNBS in the Genetics Adviser platform, initially consented to gNBS but withdrew consent before testing, and four participants who consented to gNBS but did not proceed with testing for other reasons (one fetal death in utero, three declined sample recollection).\\u003c/td\\u003e\\u003c/tr\\u003e\\u003c/tfoot\\u003e\\u003c/table\\u003e\\u003c/div\\u003e\\u003c/p\\u003e\\u003cp\\u003e\\u003c/p\\u003e\\u003cp\\u003e\\u003csup\\u003e\\u003cem\\u003ea\\u003c/em\\u003e\\u003c/sup\\u003e \\u003cem\\u003eOnly participants who completed study enrolment more than four weeks prior to their due date (n\\u0026thinsp;=\\u0026thinsp;522) were invited to complete the optional check-in.\\u003c/em\\u003e\\u003c/p\\u003e\\u003cp\\u003e\\u003csup\\u003e\\u003cem\\u003eb\\u003c/em\\u003e\\u003c/sup\\u003e \\u003cem\\u003eThis includes one participant who had a fetal death in utero, and three participants who declined sample recollection.\\u003c/em\\u003e\\u003c/p\\u003e\\u003cp\\u003e\\u003csup\\u003e\\u003cem\\u003ec\\u003c/em\\u003e\\u003c/sup\\u003e \\u003cem\\u003eGenomic newborn screening was performed for a total of 1000 newborns including 13 sets of twins.\\u003c/em\\u003e\\u003c/p\\u003e\\u003c/div\\u003e\\n\\u003ch3\\u003eValues clarification\\u003c/h3\\u003e\\n\\u003cp\\u003eThe values clarification questions were completed by 1029 participants and allowed categorization according to shared attributes, which was compared to their decision of whether to proceed with gNBS. Of this group, \\u0026lsquo;enthusiasts\\u0026rsquo; made up 38% (387/1029) and \\u0026lsquo;cautious\\u0026rsquo; 62% (642/1029). The relative likelihood of \\u0026lsquo;cautious\\u0026rsquo; participants not proceeding with gNBS was 2\\u0026middot;5 times higher than \\u0026lsquo;enthusiasts\\u0026rsquo; (p\\u0026thinsp;\\u0026lt;\\u0026thinsp;0\\u0026middot;05) (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab2\\\" class=\\\"InternalRef\\\"\\u003e2\\u003c/span\\u003e).\\u003c/p\\u003e\\u003cp\\u003e\\u003cdiv class=\\\"gridtable\\\"\\u003e\\u003ctable float=\\\"Yes\\\" id=\\\"Tab2\\\" border=\\\"1\\\"\\u003e\\u003ccaption language=\\\"En\\\"\\u003e\\u003cdiv class=\\\"CaptionNumber\\\"\\u003eTable 2\\u003c/div\\u003e\\u003cdiv class=\\\"CaptionContent\\\"\\u003e\\u003cp\\u003eParticipants\\u0026rsquo; values clarification results compared with their decision of whether to proceed with genomic newborn screening (n\\u0026thinsp;=\\u0026thinsp;1029).\\u003c/p\\u003e\\u003c/div\\u003e\\u003c/caption\\u003e\\u003ccolgroup cols=\\\"4\\\"\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c1\\\" colnum=\\\"1\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c2\\\" colnum=\\\"2\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c3\\\" colnum=\\\"3\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"char\\\" char=\\\".\\\" class=\\\"colspec\\\" colname=\\\"c4\\\" colnum=\\\"4\\\"\\u003e\\u003c/div\\u003e\\u003cthead\\u003e\\u003ctr\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u0026nbsp;\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003eProceeded with gNBS\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eDid not proceed with gNBS\\u003csup\\u003ea\\u003c/sup\\u003e\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003eTotal\\u003c/p\\u003e\\u003c/th\\u003e\\u003c/tr\\u003e\\u003c/thead\\u003e\\u003ctbody\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eEnthusiast\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e378 (98%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e9 (2%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e387\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eCautious\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e609 (95%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e33 (5%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e642\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eConcerned\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e0 (0%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e0 (0%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e0\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003e\\u003cb\\u003eTotal\\u003c/b\\u003e\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e987 (96%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003e42 (4%)\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c4\\\"\\u003e\\u003cp\\u003e1029\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003c/tbody\\u003e\\u003c/colgroup\\u003e\\u003ctfoot\\u003e\\u003ctr\\u003e\\u003ctd colspan=\\\"4\\\"\\u003e\\u003csup\\u003ea\\u003c/sup\\u003e This group includes four participants who consented to gNBS but ultimately did not proceed with testing (one fetal death in utero, three declined sample recollection).\\u003c/td\\u003e\\u003c/tr\\u003e\\u003c/tfoot\\u003e\\u003c/table\\u003e\\u003c/div\\u003e\\u003c/p\\u003e\\n\\u003ch3\\u003eUse of Genetics Adviser\\u003c/h3\\u003e\\n\\u003cp\\u003eOf the 1007 participants who provided feedback on Genetics Adviser, the majority (96%, n\\u0026thinsp;=\\u0026thinsp;963) found it easy to use, with 85% (n\\u0026thinsp;=\\u0026thinsp;851) reporting spending less than 20 minutes on the platform (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig2\\\" class=\\\"InternalRef\\\"\\u003e2\\u003c/span\\u003e). Over half (n\\u0026thinsp;=\\u0026thinsp;560, 56%) felt the information presented was in favour of gNBS, while 43% (n\\u0026thinsp;=\\u0026thinsp;433) felt it was balanced (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e). Eighty-eight percent (n\\u0026thinsp;=\\u0026thinsp;879) of participants described the platform as helpful or very helpful in delivering information on gNBS (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e). Eighty-nine percent (n\\u0026thinsp;=\\u0026thinsp;899) thought the amount of time spent on the platform was acceptable and 65% (n\\u0026thinsp;=\\u0026thinsp;647) described using the platform as enjoyable. Almost all participants (97%, n\\u0026thinsp;=\\u0026thinsp;972) found the values clarification questions easy to understand. Over 90% (n\\u0026thinsp;=\\u0026thinsp;910) of participants were satisfied with the platform overall (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e).\\u003c/p\\u003e\\u003cp\\u003e\\u003c/p\\u003e\\u003cp\\u003e\\u003c/p\\u003e\\n\\u003ch3\\u003eKnowledge\\u003c/h3\\u003e\\n\\u003cp\\u003eFollowing the education components of the platform, over 80% (808/987) of participants whose newborns had gNBS answered six or more knowledge questions correctly, with 31% (303/987) of participants answering 8/8 questions correctly. Knowledge did not significantly change over time, with 87% (445/510) answering six or more questions correctly and 34% (171/510) answering 8/8 questions correctly three months post-result (Fig.\\u0026nbsp;\\u003cspan refid=\\\"Fig4\\\" class=\\\"InternalRef\\\"\\u003e4\\u003c/span\\u003e). There was no significant difference between the matched scores of participants at enrolment when compared to three months post-result (n\\u0026thinsp;=\\u0026thinsp;510, z\\u0026thinsp;=\\u0026thinsp;1\\u0026middot;69, p\\u0026thinsp;=\\u0026thinsp;0\\u0026middot;0914). The best understanding related to false negative and positive results and lowest understanding related to relevance of family history to gNBS and definition of treatability.\\u003c/p\\u003e\\u003cp\\u003e\\u003c/p\\u003e\\n\\u003ch3\\u003eCheck-in and result recall\\u003c/h3\\u003e\\n\\u003cp\\u003eThe majority (67%, 271/404) of participants described feeling prepared or somewhat prepared for receiving their baby\\u0026rsquo;s result when asked at the check-in point four weeks prior to their due date. Four participants withdrew consent for gNBS at the time of check-in, however, only two of these participants actively opened the check-in module.\\u003c/p\\u003e\\u003cp\\u003eResult recall was accurate with only 4/510 participants being unsure of their baby\\u0026rsquo;s gNBS result three months post-result, and only one participant incorrectly recalling that they received a low chance result when they had received a high chance result.\\u003c/p\\u003e\\u003cdiv id=\\\"Sec8\\\" class=\\\"Section2\\\"\\u003e\\u003ch2\\u003eContacts\\u003c/h2\\u003e\\u003cp\\u003eA total of 886 contacts were recorded between the study team and 35% (457/1288) of participants who expressed interest in the study. The study team initiated 80% (713/886) of all contacts, the majority (60%, 427/713) related to enrolment progress. Of contacts initiated by participants only 7% (12/173) were for further counselling around gNBS with the most frequent queries relating to genomic data storage, privacy, and insurance implications.\\u003c/p\\u003e\\u003c/div\\u003e\\n\\u003ch3\\u003eInterviews\\u003c/h3\\u003e\\n\\u003cp\\u003eTwenty-two participants completed an interview, with two including partners. Interviewees described their perceptions of Genetics Adviser in relation to five categories: benefits of an online process, needing alternative options, utility of online content, level of information, and design.\\u003c/p\\u003e\\u003cp\\u003eInterviewees valued the online process, primarily for pragmatic reasons. Some felt it was personally beneficial to access information online (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 1). Others described it as an \\u0026lsquo;efficient\\u0026rsquo; way to support gNBS delivery at population scale, maximizing access to comprehensive gNBS information, while minimizing expectations on healthcare providers (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quotes 2,3).\\u003c/p\\u003e\\u003cp\\u003e\\u003cdiv class=\\\"gridtable\\\"\\u003e\\u003ctable float=\\\"Yes\\\" id=\\\"Tab3\\\" border=\\\"1\\\"\\u003e\\u003ccaption language=\\\"En\\\"\\u003e\\u003cdiv class=\\\"CaptionNumber\\\"\\u003eTable 3\\u003c/div\\u003e\\u003cdiv class=\\\"CaptionContent\\\"\\u003e\\u003cp\\u003eQuotes from participant interviews.\\u003c/p\\u003e\\u003c/div\\u003e\\u003c/caption\\u003e\\u003ccolgroup cols=\\\"3\\\"\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c1\\\" colnum=\\\"1\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"char\\\" char=\\\".\\\" class=\\\"colspec\\\" colname=\\\"c2\\\" colnum=\\\"2\\\"\\u003e\\u003c/div\\u003e\\u003cdiv align=\\\"left\\\" class=\\\"colspec\\\" colname=\\\"c3\\\" colnum=\\\"3\\\"\\u003e\\u003c/div\\u003e\\u003cthead\\u003e\\u003ctr\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eCategory\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e#\\u003c/p\\u003e\\u003c/th\\u003e\\u003cth align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eQuote\\u003c/p\\u003e\\u003c/th\\u003e\\u003c/tr\\u003e\\u003c/thead\\u003e\\u003ctbody\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\" morerows=\\\"2\\\" rowspan=\\\"3\\\"\\u003e\\u003cp\\u003eBenefits of an online process\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e1\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eSome people would say like why is everything online? But I think that\\u0026rsquo;s actually better, easier.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e2\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eIf you\\u0026rsquo;re doing it [gNBS] at population level, you need something pretty efficient. So it [an online process] probably works pretty well, doesn\\u0026rsquo;t it?... I\\u0026rsquo;m sure there would be people where a sit-down interview or counselling might be better, but realistically, at population level, you couldn\\u0026rsquo;t do that, could you?\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e3\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI think, as a healthcare provider [myself], it would be really, really complex to expect midwives, nurses, GPs to explain this information, or even obstetricians. That\\u0026rsquo;s why I liked the Genetics Adviser platform as well, like plain language, but making it so everybody can kind of understand.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\" morerows=\\\"3\\\" rowspan=\\\"4\\\"\\u003e\\u003cp\\u003eNeeding alternative options\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e4\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eHaving the option to speak to someone about it is probably a pretty good fallback for anyone for whom the online information wasn\\u0026rsquo;t quite enough.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e5\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI think that most people are fearful of things that they don't understand, so if you don't have someone sitting down and talking and offering and asking questions, well most people will just throw that piece of paper away.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e6\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI don\\u0026rsquo;t know that it [the consent process] could be entirely online because there\\u0026rsquo;s just some big questions around computer literacy and language literacy as well, then just science and medical literacy.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e7\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eEnglish might not be the first language for everyone\\u0026hellip;a lot of people might not even have the ability to interpret the information.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\" morerows=\\\"3\\\" rowspan=\\\"4\\\"\\u003e\\u003cp\\u003eUtility of online content\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e8\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI was really just focused on just trying to understand what the study was and if it was something that I would be interested in.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e9\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eNot that it [Genetics Adviser] would have changed our decision, but it kind of strengthened, I guess, the like informed consent part of it.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e10\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eWe focused more on what the steps and procedures [we] are going to take, and what sort of information we\\u0026rsquo;re going to receive after we join the program, [rather] than the program itself.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e11\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI sort of read through everything and had my opinions and then I passed everything across to my husband because I think it\\u0026rsquo;s our child, not [just] mine.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\" morerows=\\\"3\\\" rowspan=\\\"4\\\"\\u003e\\u003cp\\u003eLevel of information\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e12\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eIt was quite simple language, so there was no medical terminology or jargon that I struggled with.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e13\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eI know that my friend that is also participating and she was like, \\u0026ldquo;the feedback is that it\\u0026rsquo;s too long and annoying for her to answer all those questions.\\u0026rdquo;\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e14\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eThe list [of conditions screened] is hilariously huge and well beyond my level of understanding\\u0026hellip;it\\u0026rsquo;s good it was there but I think a lot of people wouldn\\u0026rsquo;t do more than scroll past the page or two.\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e15\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eThat [list of conditions] could have probably been a little bit more user friendly, maybe being broken down with some headings\\u0026hellip;maybe some explanation on what each condition is\\u0026hellip;I think that there probably needs to be more of an emphasis on support on the other end of that [a high chance result].\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003ctr\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c1\\\"\\u003e\\u003cp\\u003eDesign\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"char\\\" char=\\\".\\\" colname=\\\"c2\\\"\\u003e\\u003cp\\u003e16\\u003c/p\\u003e\\u003c/td\\u003e\\u003ctd align=\\\"left\\\" colname=\\\"c3\\\"\\u003e\\u003cp\\u003eThere were quite a lot of steps to actually get to the list of the things that were being tested for\\u0026hellip;I felt like there were a few points where it was almost felt like they were hiding which conditions it actually was and I was like, \\u0026ldquo;Just tell me the conditions please.\\u0026rdquo;\\u003c/p\\u003e\\u003c/td\\u003e\\u003c/tr\\u003e\\u003c/tbody\\u003e\\u003c/colgroup\\u003e\\u003c/table\\u003e\\u003c/div\\u003e\\u003c/p\\u003e\\u003cp\\u003eInterviewees acknowledged an online process may not be suitable or sufficient for everyone. They highlighted that discussion may be important in some contexts to provide personalized information, answer questions and facilitate trust (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quotes 4,5). Alternative options will be particularly important for people with limited literacy or those who use languages other than English (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quotes 6,7).\\u003c/p\\u003e\\u003cp\\u003eInterviewees discussed the utility of online content for their decision making. While some used Genetics Adviser to help them decide (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 8), many used it to reaffirm an already made decision (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 9). Online content was used to access detailed information about processes, conditions screened, and post-result support (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 10), and to facilitate discussions with partners (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 11).\\u003c/p\\u003e\\u003cp\\u003eInterviewees were generally satisfied with the amount of information and felt that it was understandable (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 12). Some participants found the process too long (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 13). Several interviewees raised that the list of conditions screened was long and complex (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 14). They expressed the desire for more user-friendly information about conditions and potential post-result pathways (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 15). Participant recollections of receiving a low chance result varied with some suggesting they were preoccupied with their newborn and could not fully recall the result notification process. Of those that remembered the experience, all supported the timing of result disclosure and found the online platform to be a convenient way to access the information.\\u003c/p\\u003e\\u003cp\\u003eOverall, interviewees described the design of Genetics Adviser positively, using descriptors such as \\u0026lsquo;easy\\u0026rsquo;, \\u0026lsquo;clean\\u0026rsquo;, \\u0026lsquo;efficient\\u0026rsquo;, \\u0026lsquo;user friendly\\u0026rsquo;, and \\u0026lsquo;aesthetically pleasing\\u0026rsquo;. Navigation challenges reported related to the overall online process of BabyScreen+, rather than the Genetics Adviser platform (Table\\u0026nbsp;\\u003cspan refid=\\\"Tab3\\\" class=\\\"InternalRef\\\"\\u003e3\\u003c/span\\u003e, quote 16).\\u003c/p\\u003e\"},{\"header\":\"Discussion\",\"content\":\"\\u003cp\\u003eWe evaluated the use of a digital platform, Genetics Adviser, to support education, decision making, consent, and result return in a cohort of 1007 parents who consented to gNBS for their newborns. Our survey and interview data indicate high acceptability to families, with feedback highlighting the benefits of an efficient, flexible, family-centered method for informed consent. Our data indicate the model is scalable, with excellent knowledge retention among participants and low need for contact with genetic professionals.\\u003c/p\\u003e\\u003cp\\u003eOne of the advantages of an online platform is the ability to provide consistent and comprehensive information at scale. The ability to tailor information to an individual’s preferences supports value-congruent decision making.\\u003csup\\u003e\\u003cspan citationid=\\\"CR13\\\" class=\\\"CitationRef\\\"\\u003e13\\u003c/span\\u003e\\u003c/sup\\u003e Many participating in a pilot research program would describe themselves as ‘information seeking’. The platform provided the opportunity to access detailed or complex information such as a link out to a complete list of genes screened. Even with this function, participants spent considerably less time on the platform than we anticipate they would spend with a genetic counsellor face-to-face.\\u003csup\\u003e\\u003cspan citationid=\\\"CR14\\\" class=\\\"CitationRef\\\"\\u003e14\\u003c/span\\u003e\\u003c/sup\\u003e\\u003c/p\\u003e\\u003cp\\u003eKnowledge, and the retention of knowledge, was high in participants in this study (Fig.\\u0026nbsp;5) and prior evaluations of this platform.\\u003csup\\u003e\\u003cspan citationid=\\\"CR14\\\" class=\\\"CitationRef\\\"\\u003e14\\u003c/span\\u003e\\u003c/sup\\u003e This is consistent with evaluations of digital platforms and decision aids generally, which indicate better understanding of genetic testing that is maintained over time,\\u003csup\\u003e\\u003cspan citationid=\\\"CR6\\\" class=\\\"CitationRef\\\"\\u003e6\\u003c/span\\u003e\\u003c/sup\\u003e and improved knowledge regarding testing options.\\u003csup\\u003e\\u003cspan citationid=\\\"CR6\\\" class=\\\"CitationRef\\\"\\u003e6\\u003c/span\\u003e\\u003c/sup\\u003e This is in stark contrast with reports of participants understanding little or none of the information they received from clinician provided genomic test results in a screening setting.\\u003csup\\u003e\\u003cspan citationid=\\\"CR15\\\" class=\\\"CitationRef\\\"\\u003e15\\u003c/span\\u003e\\u003c/sup\\u003e This may demonstrate the ability of Genetics Adviser to engage families and contextualise the screening test and meaning of results. Only a single family incorrectly recalled their result. This was a high chance result, \\u003cem\\u003eG6PD\\u003c/em\\u003e deficiency, that was delivered in person by a professional and recalled as a low chance result. This may reflect the nature of the condition where health problems can be avoided with preventative measures.\\u003c/p\\u003e\\u003cp\\u003eThe online consent model provides a clear benefit to workforce scalability. The existing genetics workforce is unable to meet the growing demand for services.\\u003csup\\u003e\\u003cspan citationid=\\\"CR16\\\" class=\\\"CitationRef\\\"\\u003e16\\u003c/span\\u003e,\\u003cspan citationid=\\\"CR17\\\" class=\\\"CitationRef\\\"\\u003e17\\u003c/span\\u003e\\u003c/sup\\u003e Introducing population wide genomic screening with traditional models would require decades of workforce expansion with ongoing education and training. In contrast, an online platform is adaptable and can be easily and routinely updated as program delivery or conditions screened evolve. Further, as programs scale, the incremental cost of using an online platform is relatively low. Therefore, we believe that online platforms and digital technology have a key role to play in the implementation of population-based genomic screening, reserving contact with health professionals to be targeted to where and when it is most needed.\\u003csup\\u003e\\u003cspan citationid=\\\"CR18\\\" class=\\\"CitationRef\\\"\\u003e18\\u003c/span\\u003e\\u003c/sup\\u003e This cohort, as with previously studied cohorts,\\u003csup\\u003e\\u003cspan citationid=\\\"CR19\\\" class=\\\"CitationRef\\\"\\u003e19\\u003c/span\\u003e\\u003c/sup\\u003e consistently have concerns regarding privacy and insurance, topics highly amenable to standardised written information. Our interview participants placed high value in having the ability to contact a professional if required, consistent with feedback from other online models;\\u003csup\\u003e\\u003cspan citationid=\\\"CR20\\\" class=\\\"CitationRef\\\"\\u003e20\\u003c/span\\u003e\\u003c/sup\\u003e however, very few needed to use this. Previous comparative studies between web-based platforms and in-person genetic counselling have demonstrated non-inferiority, indicating that a digital model is sufficient to support many genetic healthcare workflows.\\u003csup\\u003e\\u003cspan citationid=\\\"CR21\\\" class=\\\"CitationRef\\\"\\u003e21\\u003c/span\\u003e\\u003c/sup\\u003e\\u003c/p\\u003e\\u003cp\\u003eOur model introduced some novel challenges, due to the separate timing of consent and testing. We offered gNBS during the third trimester of pregnancy, based on parental preferences\\u003csup\\u003e\\u003cspan citationid=\\\"CR22\\\" class=\\\"CitationRef\\\"\\u003e22\\u003c/span\\u003e\\u003c/sup\\u003e and prior experience from other studies which indicated parents find it difficult to engage with complex information and decision-making in the immediate postpartum period.\\u003csup\\u003e\\u003cspan citationid=\\\"CR3\\\" class=\\\"CitationRef\\\"\\u003e3\\u003c/span\\u003e\\u003c/sup\\u003e Participants reflected positively on this timing. We used a ‘check-in’ function to confirm choices for testing are maintained over time and consent is still valid at the time of sample collection. The value of this functionality was highlighted by four participants changing their mind about gNBS at the check-in point.\\u003c/p\\u003e\\u003cp\\u003eWhile the use of online devices is now near ubiquitous, having the platform in a single language is a barrier to equity of access and this is a major limitation of the study. Strategies to develop multilingual options and culturally appropriate adaption of the platform are being considered and will be an important component of scaling these tools for population use.\\u003csup\\u003e\\u003cspan citationid=\\\"CR23\\\" class=\\\"CitationRef\\\"\\u003e23\\u003c/span\\u003e\\u003c/sup\\u003e However, this will not address access issues for everyone. Online options for genetic test results are preferred for convenience and time efficiency;\\u003csup\\u003e\\u003cspan citationid=\\\"CR24\\\" class=\\\"CitationRef\\\"\\u003e24\\u003c/span\\u003e\\u003c/sup\\u003e however, have not demonstrated benefits in addressing issues of equity to date.\\u003csup\\u003e\\u003cspan citationid=\\\"CR25\\\" class=\\\"CitationRef\\\"\\u003e25\\u003c/span\\u003e\\u003c/sup\\u003e This is further highlighted by the values clarification exercise in which no participants were classified as ‘concerned’, demonstrating that this study has captured a cohort that is more likely to be trusting in the healthcare system and research. Notably, there was significant under-representation of families whose main language spoken at home was not English compared to our general population. While interpreters were available to facilitate enrolment this was not directly advertised to participants and there was no uptake of this service. This highlights a need to raise awareness and trust in underrepresented groups, and to make the alternative options to access gNBS clear and accessible.\\u003c/p\\u003e\\u003cp\\u003eGenomic population-scale screening programs will require independent infrastructure and explicit pathways to succeed.\\u003csup\\u003e\\u003cspan citationid=\\\"CR26\\\" class=\\\"CitationRef\\\"\\u003e26\\u003c/span\\u003e\\u003c/sup\\u003e The use of digital platforms provides a feasible model for how gNBS can sit outside of regular clinical workflows but integrate with the healthcare system.\\u003csup\\u003e\\u003cspan citationid=\\\"CR27\\\" class=\\\"CitationRef\\\"\\u003e27\\u003c/span\\u003e\\u003c/sup\\u003e Ease of participation is an important factor in uptake of a screening program and online information and consent is a key component that has demonstrated success in this cohort and others.\\u003csup\\u003e\\u003cspan citationid=\\\"CR28\\\" class=\\\"CitationRef\\\"\\u003e28\\u003c/span\\u003e\\u003c/sup\\u003e Implementing technology to support individual choices, quality care and service efficiencies will be an important component of scaling gNBS and other genomic screening programs but necessitates ongoing development and evaluation to ensure equitable outcomes.\\u003c/p\\u003e\\u003cdiv id=\\\"Sec11\\\" class=\\\"Section2\\\"\\u003e\\u003cdiv id=\\\"Sec12\\\" class=\\\"Section3\\\"\\u003e\\u003c/div\\u003e\\u003c/div\\u003e\"},{\"header\":\"Methods\",\"content\":\"\\u003ch2\\u003eThe BabyScreen + study\\u003c/h2\\u003e\\u003cp\\u003eThe protocol and main outcomes of the BabyScreen + study are described in detail elsewhere.\\u003csup\\u003e\\u003cspan citationid=\\\"CR8\\\" class=\\\"CitationRef\\\"\\u003e8\\u003c/span\\u003e,\\u003cspan citationid=\\\"CR29\\\" class=\\\"CitationRef\\\"\\u003e29\\u003c/span\\u003e\\u003c/sup\\u003e Briefly, BabyScreen + provided gNBS to 1000 infants in Victoria, Australia. Consent was provided during the third trimester of pregnancy. Prospective birth parents were invited to enrol via the Genetics Adviser platform either actively, through pregnancy care providers (obstetricians, midwifes or general practitioners), or passively, through advertising (posters and videos in waiting rooms, flyers in pregnancy care packs, social media, pregnancy app and text messages). Clinically accredited whole genome sequencing was performed on dried blood spot cards collected for standard NBS. Screening was targeted to disease-causing variants in 605 genes associated with severe, early-onset, treatable conditions.\\u003csup\\u003e\\u003cspan citationid=\\\"CR30\\\" class=\\\"CitationRef\\\"\\u003e30\\u003c/span\\u003e\\u003c/sup\\u003e Results were available, on average, 13 days after receipt of sample.\\u003csup\\u003e\\u003cspan citationid=\\\"CR8\\\" class=\\\"CitationRef\\\"\\u003e8\\u003c/span\\u003e\\u003c/sup\\u003e Low chance results were provided via Genetics Adviser when no disease-causing variants were identified. High chance results, when a disease-causing variant was identified, were provided by phone by a study genetic counsellor.\\u003c/p\\u003e\\u003ch2\\u003eDesign of Genetics Adviser\\u003c/h2\\u003e\\u003cp\\u003eThe Genetics Adviser platform was used for education, decision support, capturing consent, and delivery of test results. Content was tailored for BabyScreen + based on previous experience using the platform for additional findings in the pediatric rare disease setting\\u003csup\\u003e\\u003cspan citationid=\\\"CR31\\\" class=\\\"CitationRef\\\"\\u003e31\\u003c/span\\u003e\\u003c/sup\\u003e and was piloted on people in the general population prior to use. It comprised a dynamic learning experience for pre-test education, short animations and case vignettes, values clarification through a short question and answer section, expandable tabs to control the amount of information, and a consent and return of results page. Participants could access the list of genes and associated conditions being screened in the study via a web link in Genetics Adviser.\\u003c/p\\u003e\\u003cp\\u003eThe platform was designed to be accessed via QR code or URL on any device capable of internet connection. Participants were required to register using their email address to access the platform. Participants progressed through the education content on gNBS and values clarification questions before deciding whether to provide clinical consent to gNBS for their baby. A ‘check-in’ function was included to ensure ongoing informed consent just prior to birth; participants who provided consent for testing received an automated reminder about the study four weeks prior to their due date via email and SMS. This invited them to log back into Genetics Adviser, where they received a brief refresher on gNBS and had the option to review their gNBS consent. For low chance results, participants were notified via email and SMS that their baby’s result was available in Genetics Adviser. They were prompted to log back into the platform and were provided with a fact sheet, which summarised the salient points about the nature of the screening and reminded them that genomic data is stored and available for further clinical use.\\u003c/p\\u003e\\u003cp\\u003eParticipants had telephone and email access to genetic counsellors throughout the study. The Genetics Adviser platform was only available in English; however, interpreters were available for any participant upon request to facilitate enrolment, consent, and return of results in their preferred language.\\u003c/p\\u003e\\u003ch2\\u003eEvaluation and analysis\\u003c/h2\\u003e\\u003cp\\u003eA multi-methods approach was used for evaluation. Participants completed a survey at the time of enrolment, and those whose newborns had gNBS were invited to complete an optional survey three months post-result. At enrolment, in addition to demographic information, the participant experience of using the Genetics Adviser platform was evaluated. The Acceptability e-Scale\\u003csup\\u003e\\u003cspan citationid=\\\"CR32\\\" class=\\\"CitationRef\\\"\\u003e32\\u003c/span\\u003e\\u003c/sup\\u003e was used for this, including: time spent on the platform, ease of use, clarity and helpfulness of the information, bias of information for/against gNBS, and overall satisfaction. The survey at enrolment also included a knowledge assessment which was repeated three months post-result; participants were presented with eight statements about gNBS and asked to indicate whether they were true, false, or unsure.\\u003c/p\\u003e\\u003cp\\u003eThe values clarification exercise comprised six short statements presenting potential outcomes of gNBS and asked participants to indicate if these would be ‘helpful’, ‘not helpful’, or ‘unsure’. This was designed to ascertain the predicted value and impact of screening to each family. Based on their responses, the Genetics Adviser platform categorised participants into established profiles;\\u003csup\\u003e\\u003cspan citationid=\\\"CR33\\\" class=\\\"CitationRef\\\"\\u003e33\\u003c/span\\u003e\\u003c/sup\\u003e ‘enthusiasts’, ‘cautious,’ or ‘concerned’ about gNBS for their newborn. Participants who answered ‘helpful’ or ‘not helpful’ to all six questions were categorised as ‘enthusiasts’ and ‘concerned’ respectively, and those who answered with of mix of ‘helpful’, ‘not helpful’, and/or ‘unsure’ responses were categorized as ‘cautious’. Participants were provided with a tailored information summary depending on which profile they were categorised into.\\u003c/p\\u003e\\u003cp\\u003eThe optional check-in function contained one multiple choice question to ascertain participants’ preparedness to receive their baby’s gNBS result. Result recall was measured at three months post-result. Information regarding participant contacts with the study team was recorded in a Research Electronic Data Capture (REDCap) database by study genetic counsellors.\\u003c/p\\u003e\\u003cp\\u003eA random sample of participants were invited to participate in an interview after consent for testing but prior to results being issued. Semi-structured interviews about experiences of being offered BabyScreen+, the decision-making and online processes were conducted via Zoom or telephone and audio-recorded for transcription. An external transcription company transcribed recordings verbatim and identifying details were removed.\\u003c/p\\u003e\\u003cp\\u003eAll survey data analysis was completed using Stata SE18 and Microsoft Excel. Fisher’s exact test was utilised to examine differences in the proportion of ‘enthusiasts’ and ‘cautious’ participants who proceeded with gNBS. A Wilcoxon signed-rank test was run to explore if there was a significant change in knowledge across time points. For all qualitative data, free-text survey responses, and interview transcripts, Microsoft Excel or NVivo were used to organise data and facilitate analysis. All data related to Genetics Adviser was identified in the transcripts and an inductive content analysis approach was utilized. This involved open coding to identify key concepts and patterns in the data which were then grouped into broader categories.\\u003c/p\\u003e\"},{\"header\":\"Declarations\",\"content\":\"\\u003cp\\u003e\\u003cstrong\\u003e\\u003cem\\u003eEthical approval\\u003c/em\\u003e\\u003c/strong\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003eThe BabyScreen+ study is governed and administered by the Murdoch Children\\u0026rsquo;s Research Institute (MCRI), Melbourne, Australia and received ethics approval from The Royal Children\\u0026rsquo;s Hospital Melbourne Human Research Ethics Committee (HREC/91500/RCHM-2023).\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003e\\u003cem\\u003eFunding\\u0026nbsp;\\u003c/em\\u003e\\u003c/strong\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003eThe BabyScreen+ study was funded by the Australian Government\\u0026rsquo;s Medical Research Future Fund as part of the Genomics Health Futures Mission (MRF2015937). Research conducted at the Murdoch Children\\u0026apos;s Research Institute was supported by the Victorian Government\\u0026apos;s Operational Infrastructure Support Program. The funder of the study had no role in study design, data collection, data analysis, data interpretation, or writing of the report.\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eData availability \\u0026nbsp;\\u003c/strong\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003eDeidentified individual participant data that underlie the results reported in this Article and a data dictionary are available after publication upon reasonable request. To request access to the data, please email the Principal Investigators of the study, Sebastian Lunke (sebastian.lunke@vcgs.org.au) and Zornitza Stark (zornitza.stark@vcgs.org.au). Data are located in controlled access data storage at MCRI.\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eAuthor Contributions\\u003c/strong\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003eZS and SL were responsible for study conception, funding acquisition and oversight of the study. ZS, SL, LD, JC, SB, CG, ADA, ET, and AKP contributed to the design of the study. YB and MC developed the Genetics Adviser platform, and YB, MC, ZS, SL, JC, LD, SB, CG, and ADA contributed to the adaption of the platform for the BabyScreen+ study. SL, ZS, NK, ET, and AKP developed the data analysis plan. NK, JC, SL, ET, and AKP contributed to data analysis and interpretation and have verified the data. LD, ZS, JC, and NK drafted the manuscript. All authors critically revised the manuscript and provided final approval of the version to be published. All authors had full access to all the data in the study. All authors had final responsibility for the decision to submit for publication.\\u0026nbsp;\\u003c/p\\u003e\\n\\u003cp\\u003e\\u003cstrong\\u003eCompeting interests\\u0026nbsp;\\u003c/strong\\u003e\\u003c/p\\u003e\\n\\u003cp\\u003eYvonne Bombard and Marc Clausen are co-founders of the Genetics Adviser platform.The other authors have no conflicts of interest to declare.\\u0026nbsp;\\u003c/p\\u003e\"},{\"header\":\"References\",\"content\":\"\\u003col\\u003e\\n\\u003cli\\u003eBombard, Y., Ginsburg, G.S., Sturm, A.C., Zhou, A.Y. \\u0026amp; Lemke, A.A. Digital health-enabled genomics: Opportunities and challenges. \\u003cem\\u003eAm J Hum Genet\\u003c/em\\u003e \\u003cstrong\\u003e109\\u003c/strong\\u003e, 1190-1198 (2022).\\u003c/li\\u003e\\n\\u003cli\\u003eStark, Z. \\u0026amp; Scott, R.H. Genomic newborn screening for rare diseases. \\u003cem\\u003eNat Rev Genet\\u003c/em\\u003e (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eGenetti, C.A.\\u003cem\\u003e et al.\\u003c/em\\u003e Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e21\\u003c/strong\\u003e, 622-630 (2019).\\u003c/li\\u003e\\n\\u003cli\\u003eWright, H., Zhao, L., Birks, M. \\u0026amp; Mills, J. Genomic Literacy of Registered Nurses and Midwives in Australia: A Cross-Sectional Survey. \\u003cem\\u003eJ Nurs Scholarsh\\u003c/em\\u003e \\u003cstrong\\u003e51\\u003c/strong\\u003e, 40-49 (2019).\\u003c/li\\u003e\\n\\u003cli\\u003eTutty, E.\\u003cem\\u003e et al.\\u003c/em\\u003e Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework. \\u003cem\\u003eEur J Hum Genet\\u003c/em\\u003e \\u003cstrong\\u003e32\\u003c/strong\\u003e, 1599-1605 (2024).\\u003c/li\\u003e\\n\\u003cli\\u003eStacey, D.\\u003cem\\u003e et al.\\u003c/em\\u003e Decision aids for people facing health treatment or screening decisions. \\u003cem\\u003eCochrane Database Syst Rev\\u003c/em\\u003e \\u003cstrong\\u003e4\\u003c/strong\\u003e, Cd001431 (2017).\\u003c/li\\u003e\\n\\u003cli\\u003eWhiwon, L.\\u003cem\\u003e et al.\\u003c/em\\u003e Patient-facing digital tools for delivering genetic services: a systematic review. \\u003cem\\u003eJ Med Genet\\u003c/em\\u003e \\u003cstrong\\u003e60\\u003c/strong\\u003e, 1-10 (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eLunke, S. \\u003cem\\u003eet al.\\u003c/em\\u003eGenomic newborn screening: feasibility, acceptability and clinical outcomes \\u003cem\\u003eNature Medicine\\u003c/em\\u003e \\u003cstrong\\u003eIn press \\u003c/strong\\u003e(2025).\\u003c/li\\u003e\\n\\u003cli\\u003eClausen, M.\\u003cem\\u003e et al.\\u003c/em\\u003e Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing. \\u003cem\\u003eGenet Med Open\\u003c/em\\u003e \\u003cstrong\\u003e2\\u003c/strong\\u003e, 101814 (2024).\\u003c/li\\u003e\\n\\u003cli\\u003eCasalino, S.\\u003cem\\u003e et al.\\u003c/em\\u003e A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e26\\u003c/strong\\u003e, 101272 (2024).\\u003c/li\\u003e\\n\\u003cli\\u003ePereira, S.\\u003cem\\u003e et al.\\u003c/em\\u003e Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. \\u003cem\\u003ePediatrics\\u003c/em\\u003e \\u003cstrong\\u003e143\\u003c/strong\\u003e, S6-s13 (2019).\\u003c/li\\u003e\\n\\u003cli\\u003eShickh, S.\\u003cem\\u003e et al.\\u003c/em\\u003e Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. \\u003cem\\u003eBMJ Open\\u003c/em\\u003e \\u003cstrong\\u003e8\\u003c/strong\\u003e, e021876 (2018).\\u003c/li\\u003e\\n\\u003cli\\u003eShickh, S.\\u003cem\\u003e et al.\\u003c/em\\u003e The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e23\\u003c/strong\\u003e, 1086-1094 (2021).\\u003c/li\\u003e\\n\\u003cli\\u003eBombard, Y.\\u003cem\\u003e et al.\\u003c/em\\u003e Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e22\\u003c/strong\\u003e, 727-735 (2020).\\u003c/li\\u003e\\n\\u003cli\\u003eHalverson, C.M.\\u003cem\\u003e et al.\\u003c/em\\u003e What Results Should Be Returned from Opportunistic Screening in Translational Research? \\u003cem\\u003eJ Pers Med\\u003c/em\\u003e \\u003cstrong\\u003e10\\u003c/strong\\u003e(2020).\\u003c/li\\u003e\\n\\u003cli\\u003eFennell, A.P., Hunter, M.F. \\u0026amp; Corboy, G.P. The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e22\\u003c/strong\\u003e, 210-218 (2020).\\u003c/li\\u003e\\n\\u003cli\\u003eFlannery, D.B. Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system. \\u003cem\\u003eCurr Opin Pediatr\\u003c/em\\u003e \\u003cstrong\\u003e30\\u003c/strong\\u003e, 740-745 (2018).\\u003c/li\\u003e\\n\\u003cli\\u003eCarroll, J.C.\\u003cem\\u003e et al.\\u003c/em\\u003e Anticipating the primary care role in genomic medicine: expectations of genetics health professionals. \\u003cem\\u003eJ Community Genet\\u003c/em\\u003e \\u003cstrong\\u003e12\\u003c/strong\\u003e, 559-568 (2021).\\u003c/li\\u003e\\n\\u003cli\\u003eTiller, J.M.\\u003cem\\u003e et al.\\u003c/em\\u003e Public willingness to participate in population DNA screening in Australia. \\u003cem\\u003eJ Med Genet\\u003c/em\\u003e \\u003cstrong\\u003e60\\u003c/strong\\u003e, 662-668 (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eAdam, S.\\u003cem\\u003e et al.\\u003c/em\\u003e Assessing an Interactive Online Tool to Support Parents\\u0026apos; Genomic Testing Decisions. \\u003cem\\u003eJ Genet Couns\\u003c/em\\u003e (2018).\\u003c/li\\u003e\\n\\u003cli\\u003eBiesecker, B.B.\\u003cem\\u003e et al.\\u003c/em\\u003e Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. \\u003cem\\u003eJAMA Intern Med\\u003c/em\\u003e \\u003cstrong\\u003e178\\u003c/strong\\u003e, 338-346 (2018).\\u003c/li\\u003e\\n\\u003cli\\u003ePinel, J., Bellanger, A., Jamet, C. \\u0026amp; Moreau, C. Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion. \\u003cem\\u003eInt J Neonatal Screen\\u003c/em\\u003e \\u003cstrong\\u003e9\\u003c/strong\\u003e(2023).\\u003c/li\\u003e\\n\\u003cli\\u003eAssamad, D.\\u003cem\\u003e et al.\\u003c/em\\u003e Digital Health Tools in Genomics: Advancing Diversity, Equity, and Inclusion. \\u003cem\\u003ePublic Health Genomics\\u003c/em\\u003e \\u003cstrong\\u003e26\\u003c/strong\\u003e, 194-200 (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eGaieski, J.B.\\u003cem\\u003e et al.\\u003c/em\\u003e Research participants\\u0026apos; experiences with return of genetic research results and preferences for web-based alternatives. \\u003cem\\u003eMol Genet Genomic Med\\u003c/em\\u003e \\u003cstrong\\u003e7\\u003c/strong\\u003e, e898 (2019).\\u003c/li\\u003e\\n\\u003cli\\u003eKilbride, M.\\u003cem\\u003e et al.\\u003c/em\\u003e Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education. \\u003cem\\u003eJ Clin Oncol\\u003c/em\\u003e \\u003cstrong\\u003e41\\u003c/strong\\u003e, 4905-4915 (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eTwum, S., Fosu, K., Felder, R.A. \\u0026amp; Sarpong, K.A.N. Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa. \\u003cem\\u003eAfr J Lab Med\\u003c/em\\u003e \\u003cstrong\\u003e12\\u003c/strong\\u003e, 2225 (2023).\\u003c/li\\u003e\\n\\u003cli\\u003eLevin, T.R.\\u003cem\\u003e et al.\\u003c/em\\u003e Organized colorectal cancer screening in integrated health care systems. \\u003cem\\u003eEpidemiol Rev\\u003c/em\\u003e \\u003cstrong\\u003e33\\u003c/strong\\u003e, 101-10 (2011).\\u003c/li\\u003e\\n\\u003cli\\u003ePeay, H.L.\\u003cem\\u003e et al.\\u003c/em\\u003e Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study. \\u003cem\\u003eFront Genet\\u003c/em\\u003e \\u003cstrong\\u003e13\\u003c/strong\\u003e, 891592 (2022).\\u003c/li\\u003e\\n\\u003cli\\u003eLunke, S.\\u003cem\\u003e et al.\\u003c/em\\u003e Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol. \\u003cem\\u003eBMJ Open\\u003c/em\\u003e \\u003cstrong\\u003e14\\u003c/strong\\u003e, e081426 (2024).\\u003c/li\\u003e\\n\\u003cli\\u003eDownie, L.\\u003cem\\u003e et al.\\u003c/em\\u003e Gene selection for genomic newborn screening: Moving toward consensus? \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e26\\u003c/strong\\u003e, 101077 (2024).\\u003c/li\\u003e\\n\\u003cli\\u003eMartyn, M.\\u003cem\\u003e et al.\\u003c/em\\u003e Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes. \\u003cem\\u003eGenet Med\\u003c/em\\u003e \\u003cstrong\\u003e27\\u003c/strong\\u003e, 101327 (2025).\\u003c/li\\u003e\\n\\u003cli\\u003eTariman, J.D., Berry, D.L., Halpenny, B., Wolpin, S. \\u0026amp; Schepp, K. Validation and testing of the Acceptability E-scale for web-based patient-reported outcomes in cancer care. \\u003cem\\u003eAppl Nurs Res\\u003c/em\\u003e \\u003cstrong\\u003e24\\u003c/strong\\u003e, 53-8 (2011).\\u003c/li\\u003e\\n\\u003cli\\u003eMighton, C.\\u003cem\\u003e et al.\\u003c/em\\u003e Development of patient \\u0026quot;profiles\\u0026quot; to tailor counseling for incidental genomic sequencing results. \\u003cem\\u003eEur J Hum Genet\\u003c/em\\u003e\\u003cstrong\\u003e27\\u003c/strong\\u003e, 1008-1017 (2019).\\u003c/li\\u003e\\n\\u003c/ol\\u003e\"}],\"fulltextSource\":\"\",\"fullText\":\"\",\"funders\":[],\"hasAdminPriorityOnWorkflow\":false,\"hasManuscriptDocX\":true,\"hasOptedInToPreprint\":true,\"hasPassedJournalQc\":\"\",\"hasAnyPriority\":false,\"hideJournal\":false,\"highlight\":\"\",\"institution\":\"\",\"isAcceptedByJournal\":true,\"isAuthorSuppliedPdf\":false,\"isDeskRejected\":\"\",\"isHiddenFromSearch\":false,\"isInQc\":false,\"isInWorkflow\":false,\"isPdf\":false,\"isPdfUpToDate\":true,\"isWithdrawnOrRetracted\":false,\"journal\":{\"display\":true,\"email\":\"info@researchsquare.com\",\"identity\":\"npj-genomic-medicine\",\"isNatureJournal\":false,\"hasQc\":false,\"allowDirectSubmit\":false,\"externalIdentity\":\"npjgenmed\",\"sideBox\":\"Learn more about [npj Genomic Medicine](http://www.nature.com/npjgenmed/)\",\"snPcode\":\"41525\",\"submissionUrl\":\"https://mts-npjgenmed.nature.com/\",\"title\":\"npj Genomic Medicine\",\"twitterHandle\":\"\",\"acdcEnabled\":true,\"dfaEnabled\":true,\"editorialSystem\":\"ejp\",\"reportingPortfolio\":\"NPJ\",\"inReviewEnabled\":true,\"inReviewRevisionsEnabled\":true},\"keywords\":\"\",\"lastPublishedDoi\":\"10.21203/rs.3.rs-7389522/v1\",\"lastPublishedDoiUrl\":\"https://doi.org/10.21203/rs.3.rs-7389522/v1\",\"license\":{\"name\":\"CC BY 4.0\",\"url\":\"https://creativecommons.org/licenses/by/4.0/\"},\"manuscriptAbstract\":\"\\u003cp\\u003eDigital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen+. Participants were surveyed and interviewed on the usability and value of Genetics Adviser.\\u003c/p\\u003e\\u003cp\\u003eGenetics Adviser was used by 1048 participants and 1007 (96%) provided feedback. The majority (96%, n\\u0026thinsp;=\\u0026thinsp;963) found the platform easy to navigate, with 85% (n\\u0026thinsp;=\\u0026thinsp;851) spending\\u0026thinsp;\\u0026lt;\\u0026thinsp;20 minutes online. Participants demonstrated excellent understanding, over 80% answering at least 6/8 knowledge questions correctly. Only 7% (12/173) of participant-initiated contacts with the study team were for genetic counselling. Interview participants valued the online process.\\u003c/p\\u003e\\u003cp\\u003eWe demonstrate the successful use of a digital platform for a genomic screening program. This model is streamlined, providing consistent, user-friendly education to support decision-making with minimal input from healthcare practitioners. Further evaluation in diverse populations will be essential for future use.\\u003c/p\\u003e\",\"manuscriptTitle\":\"Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study\",\"msid\":\"\",\"msnumber\":\"\",\"nonDraftVersions\":[{\"code\":1,\"date\":\"2025-09-09 09:56:01\",\"doi\":\"10.21203/rs.3.rs-7389522/v1\",\"editorialEvents\":[{\"type\":\"communityComments\",\"content\":0},{\"type\":\"decision\",\"content\":\"Revision requested\",\"date\":\"2025-10-15T03:46:21+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"editorInvitedReview\",\"content\":\"\",\"date\":\"2025-10-14T07:42:31+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"editorInvitedReview\",\"content\":\"\",\"date\":\"2025-09-24T09:06:56+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"265338942136654141608443642153141428115\",\"date\":\"2025-09-09T15:19:11+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewerAgreed\",\"content\":\"168446810917012545300066681557684033862\",\"date\":\"2025-09-02T07:32:57+00:00\",\"index\":\"hide\",\"fulltext\":\"\"},{\"type\":\"reviewersInvited\",\"content\":\"\",\"date\":\"2025-09-02T06:19:28+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"editorAssigned\",\"content\":\"\",\"date\":\"2025-08-26T15:55:11+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"checksComplete\",\"content\":\"\",\"date\":\"2025-08-22T07:50:29+00:00\",\"index\":\"\",\"fulltext\":\"\"},{\"type\":\"submitted\",\"content\":\"npj Genomic Medicine\",\"date\":\"2025-08-16T21:27:56+00:00\",\"index\":\"\",\"fulltext\":\"\"}],\"status\":\"published\",\"journal\":{\"display\":true,\"email\":\"info@researchsquare.com\",\"identity\":\"npj-genomic-medicine\",\"isNatureJournal\":false,\"hasQc\":false,\"allowDirectSubmit\":false,\"externalIdentity\":\"npjgenmed\",\"sideBox\":\"Learn more about [npj Genomic Medicine](http://www.nature.com/npjgenmed/)\",\"snPcode\":\"41525\",\"submissionUrl\":\"https://mts-npjgenmed.nature.com/\",\"title\":\"npj Genomic Medicine\",\"twitterHandle\":\"\",\"acdcEnabled\":true,\"dfaEnabled\":true,\"editorialSystem\":\"ejp\",\"reportingPortfolio\":\"NPJ\",\"inReviewEnabled\":true,\"inReviewRevisionsEnabled\":true}}],\"origin\":\"\",\"ownerIdentity\":\"ec757606-e376-4bb0-97b3-8885c1992503\",\"owner\":[],\"postedDate\":\"September 9th, 2025\",\"published\":true,\"recentEditorialEvents\":[],\"rejectedJournal\":[],\"revision\":\"\",\"amendment\":\"\",\"status\":\"published-in-journal\",\"subjectAreas\":[{\"id\":54177625,\"name\":\"Biological sciences/Computational biology and bioinformatics\"},{\"id\":54177626,\"name\":\"Biological sciences/Genetics\"},{\"id\":54177627,\"name\":\"Health sciences/Health care\"},{\"id\":54177628,\"name\":\"Health sciences/Medical research\"}],\"tags\":[],\"updatedAt\":\"2026-02-16T16:08:40+00:00\",\"versionOfRecord\":{\"articleIdentity\":\"rs-7389522\",\"link\":\"https://doi.org/10.1038/s41525-026-00551-6\",\"journal\":{\"identity\":\"npj-genomic-medicine\",\"isVorOnly\":false,\"title\":\"npj Genomic Medicine\"},\"publishedOn\":\"2026-02-14 15:59:01\",\"publishedOnDateReadable\":\"February 14th, 2026\"},\"versionCreatedAt\":\"2025-09-09 09:56:01\",\"video\":\"\",\"vorDoi\":\"10.1038/s41525-026-00551-6\",\"vorDoiUrl\":\"https://doi.org/10.1038/s41525-026-00551-6\",\"workflowStages\":[]},\"version\":\"v1\",\"identity\":\"rs-7389522\",\"journalConfig\":\"researchsquare\"},\"__N_SSP\":true},\"page\":\"/article/[identity]/[[...version]]\",\"query\":{\"redirect\":\"/article/rs-7389522\",\"identity\":\"rs-7389522\",\"version\":[\"v1\"]},\"buildId\":\"8U1c8b4HqxoKbykW_rLl7\",\"isFallback\":false,\"isExperimentalCompile\":false,\"dynamicIds\":[84888],\"gssp\":true,\"scriptLoader\":[]}","source_license":"CC-BY-4.0","license_restricted":false}