The implementation of a national genomic newborn screening programme in the English NHS: Early lessons from the Generation Study

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In England, Genomics England have established the Generation Study in partnership with the National Health Service (NHS) to deliver gNBS for 100,000 births from October 2024. We are conducting an independent process and impact evaluation of the Generation Study and, in this manuscript, we present the factors acting as barriers and enablers in implementation across NHS settings from a staff perspective and during early stages of implementation. The study was designed as a process evaluation based on interviews (n = 38 staff delivering the programme and n = 11 staff returning results) and observations (across six NHS sites). Staff experiences of implementation were mainly positive. Engaged clinical staff, support from senior stakeholders, and close contact with Genomics England were identified as the main factors enabling implementation. Gaps in staff training, high turnover, difficulties recruiting new members of staff and issues accessing study portals were identified as barriers in implementation. Recruiting participants who were not fluent in English was an ongoing challenge for staff, so the ability to overcome this barrier through translated study materials and use of interpreters was highlighted as an important achievement. Over the coming year, we will continue documenting implementation processes with the purpose of identifying changes in staff experiences and the factors acting as barriers and enablers in implementation. Health sciences/Health care/Health services/Genetic services Health sciences/Health care/Health services/Genetic services/Genetic testing genomics newborn screening implementation English NHS Introduction The role of genomics in healthcare is expanding rapidly and there is a growing interest in the possibility of using genomic sequencing to expand current newborn screening programmes (Stark and Scott 2023). Newborn screening aims to identify infants at risk of having an inherited or congenital condition before symptoms arise, and early diagnosis enables earlier management, which may ultimately improve clinical outcomes and quality of life (Spiekerkoetter et al. 2023). Offering routine genomic newborn screening (gNBS) would allow newborn screening to include a much broader range of rare conditions, but there are still many technical, practical, psychosocial, ethical and cost challenges that need to be addressed (Bick et al. 2022; Downie et al. 2021; Lewis et al. 2026). Countries seeking to integrate gNBS programmes into routine care will need to consider the challenges associated with large-scale genomic screening (i.e., generating laboratory capacity, training staff and educating participants) as well as additional issues generated by working with a newborn patient population throughout their life course (where parents provide consent and not the participant) (Alarcon Garavito et al. 2022; Horton and Lucassen 2022). A growing number of prospective cohort studies where gNBS has been offered and results returned have been described (Minten et al. 2025; Ceyhan-Birsoy et al. 2019; Milko et al. 2018; Pavey et al. 2017; Roman et al. 2020). In England, Genomics England have established the Generation Study in partnership with the National Health Service (NHS) in England to deliver gNBS for 100,000 births from October 2024 to 2027 (Leblond et al. 2024). The Generation Study aims to explore the benefits, challenges, and practicalities of offering genome sequencing for newborns to accelerate diagnosis and access to treatment for rare genetic conditions. The baby’s genome is analysed for over 200 childhood-onset genetic conditions for which there is evidence that early intervention improves outcomes, and where there is an early-childhood intervention available through the NHS. The Generation Study is delivered through NHS Hospital Trusts with maternity services, with onboarding of new Trusts done progressively. Parents are approached to join the Generation Study before birth. Potential diagnoses are reviewed by a case manager at Genomics England and a regional results coordinator from the local Genomic Medicine Service Alliance (GMSA), in liaison with clinicians. Results are returned to parents via routine NHS pathways, with support from the NHS Genomic Medicine Service. We are conducting an independent process and impact evaluation of the Generation Study to assess the feasibility, acceptability, impact, experiences and attitudes of parents and healthcare staff, and to understand the associated costs (Vu et al. 2026) and clinical utility of sequencing in this context (Lewis et al. 2024). One component of this study is an evaluation of the process of implementing the Generation Study. In this evaluation, we examined the factors acting as barriers and enablers across NHS settings from a staff perspective, while also considering which findings are specific to the delivery of the Generation Study as a research programme (identifying factors applicable to the future integration of gNBS in routine care). This manuscript presents findings from the early stages of the implementation of the Generation Study to facilitate the rapid sharing of lessons learnt at a global scale. We will continue documenting and evaluating processes of implementation until March 2028. Research questions The research questions guiding the study were: What factors do staff identify as barriers and enablers in the implementation of the Generation Study? Which of these are likely to be relevant to future routine clinical implementation? What are staff experiences of and attitudes towards delivering the Generation Study? What are staff perceptions of parents’ engagement with the Generation Study? What implications do these have for future implementation in routine care? Study design The study was designed as a process evaluation based on qualitative research methods to document processes and gather experiences of implementation. Rapid feedback loops were embedded to share findings with implementers and national leaders as the evaluation was ongoing. Data collection instruments and analysis were informed by the Consolidated Framework for Implementation Research (CFIR) (Damschroder et al 2022) and Normalisation Process Theory (NPT) ) (Murrey 2010). Both theories facilitated the identification of components that acted as barriers and enablers in the implementation of complex interventions. Methods Data collection We carried out semi-structured interviews with staff involved in delivering the Generation Study, including site principal investigators, study coordinators and research nurses and midwives. Interviewees were based in six early adopter sites with diverse geographies and local populations. We also interviewed helpdesk staff from Genomics England, regional results coordinators and clinicians involved in returning results. The interviews were carried out by phone or video call, and delivered using an interview guide that covered tasks and time commitments, challenges and facilitators to implementation, and the reasons parents accept or decline gNBS (see Appendix 1). The interviews lasted an average of 60 minutes, were digitally recorded, professionally transcribed verbatim and then de-identified. Participant and non-participant observations were carried out in the clinical areas of the six NHS sites. We shadowed staff undertaking tasks related to the implementation of the Generation Study, including obtaining consent, general study management and relevant meetings. A structured observation guide was used to record field notes to ensure consistency in data collection across researchers and sites (see Appendix 2). Recruitment and sample characteristics A key contact at each NHS site suggested colleagues who had a role in implementing the Generation Study (following a purposive sampling approach guided by a pre-established sampling framework designed to capture a wide range of perspectives). Participants were recruited until data saturation was reached. Clinicians involved in returning results to parents were identified and initially invited to participate through Genomics England. Participants were invited to take part in a semi-structured interview via email, which included a Participant Information Sheet that described the purpose of the interviews. Participants read and signed a consent form stored securely on RedCap and had the opportunity to ask questions prior to the interviews. Observations were completed at the six sites between August 2024 and March 2025 by SC (n=5) and GB (n=1). Staff interviews were undertaken between 08 August 2024 and 21 March 2025 by SC, KG, AM, GB and EB. Clinicians involved in returning results to parents were recruited between 12 May 2025 and 23 February 2026. Pseudonyms were assigned to participants. Data analysis We used both rapid qualitative data analysis and in-depth analysis. Analysis was carried out in parallel with data collection and facilitated through interview notes and RREAL sheets; a working document where high level data are organised into categories (Vindrola-Padros et al. 2020). During the interviews and observations, the researchers took notes that were summarised and organised in the RREAL sheet immediately after each data collection episode. The RREAL sheets were then used to summarise and share emerging findings on an ongoing basis. The RREAL sheets were also used to identify topics to be explored further using in-depth analysis. For in-depth analysis, data from the interviews and observations were analysed using framework analysis (Gale et al. 2013) with open codes and the domains of the CFIR and NPT. This is an approach that facilitates identification of key themes as well as commonalities and differences in the data through comparison within and across cases. Governance The study was reviewed and approved by the HRA and the East of England – Cambridge Central NHS REC (23/EE/0044). Results A sample of 38 members of staff involved in delivering the Generation Study were interviewed. These included staff working at six local sites (n=30) who were involved in study recruitment and enrolment, staff working at a regional level (n=7) who were responsible for coordinating return of results, and a member of staff at Genomics England (n=1) who provided site support. Eleven clinicians involved in returning results to parents were also interviewed. We grouped the main study findings according to the following themes: staffing needs, engagement with the wider clinical workforce, institutional support for implementation, resources for implementation, supporting equitable recruitment and staff perceptions of parents’ engagement. The key themes, sub-themes, illustrative quotes and likely relevance of the finding to routine gNBS implementation are presented in Table 1. Table 1 . Summary of themes from the interviews and observations Themes Subthemes Illustrative quotes Likely relevance to routine gNBS implementation Staffing needs Staff training “I think what’s made it difficult and challenging has been the staffing because you’re trying to run a study and then train these staff which is not ideal, and when you’ve already got limited staff that makes things really difficult.” (I.4) ✓ / ✗ Mixed (workforce capacity and training needs will persist although unlikely to include research staff) Recruitment and retention of staff "I asked for some help and they sent someone from the Clinical Research Network (funded by the NIHR) for a period of four weeks who, by the time I’d trained them, they couldn’t get access to any of our computer systems, they didn’t have logons, by the time that they'd got a logon to a computer it was two weeks into their time." (I.6) ✓ / ✗ Mixed (staffing constraints and onboarding delays are system-level issues although staff turnover may not be as acute in routine care) Administrative support "I think there’s still more to be done to support recruitment. And some teams are still waiting for admin people, clinical trials assistants to join. And I think that will just support their capacity." (I.10) ✓ / ✗ Mixed (administrative support will remain necessary, though roles may differ) Engagement with the wider clinical workforce Engaging clinical staff "Overall barriers for this type of study - there are some groups of the clinicians which are concerned about these types of studies, about ethical issues, about NHS issues, about complexity of whole genome, information from whole genome." (I.3) ✓ Likely relevant (clinician engagement and attitudes will influence adoption) Support from senior stakeholders “Just reluctance to engage really from the research governance infrastructure within the Trust, in particular concerns about whether or not the existing research nurse/midwife team in our maternity services would be overwhelmed if we took this study on.” (I.2) ✓ Likely relevant (leadership and institutional buy-in are critical for scale-up) Institutional support for implementation Genomics England involvement (national level) “[Genomics England] has been unbelievably helpful. They are unbelievably receptive. Sorting problems pretty much immediately.” (I.3) “ I personally called the GEL emergency contact details…I was waiting for this answer for two days. And I also raised it with the helpdesk query stating urgent…Until now the query has not been answered.” ( I.25) ✓ Likely relevant (national coordination and responsiveness will remain important) Regional involvement “The [regional team] we are not in much contact with them. And at the beginning, we did not understand who [they were]... Slowly we understood that OK [they are a team] handling the research and also the Results Coordinator.” (I.12) ✓ Likely relevant (clarity of regional roles and coordination will be required in routine care) Resources for implementation Resources provided by Genomics England “At the moment we…carry a bit of a clunky laptop around and I just think having a tablet with the information that we can show them in different languages and then being able to consent on that tablet would be really helpful, because we so rarely actually have a clinical room that we can take a patient into.” (I.15) ✓ Likely relevant (equipment and consent/delivery tools will shape feasibility in practice) Study portals “when we put patients on the system they go into this black hole, we don’t see – you can't run reports...everything has to be backed up with individual screening logs because you can't just search things very easily." (I.16) ✓ Likely relevant (data systems and interoperability are critical for scale-up) Supporting equitable recruitment Challenges of equitable recruitment “Obviously there’s the financial incentive to hit a target of at least 100 [participants] per month so…last month, we overachieved on our target and this month, because we’re running on one or two members of staff a day, we’re not going to hit our target, so I have made the decision yesterday with the PI that we’re not going to approach women in inpatient areas until the end of the month, we are only going to approach self-referrals" (I.16). ✓ / ✗ Mixed (target-driven recruitment is research-specific, but equity trade-offs may persist) Language barriers “one barrier has been people who don’t speak or understand English...it shouldn’t be a barrier in the sense we have in-house translators and stuff but in the real world, because it takes longer, it is a bit of a barrier.” (I.21) ✓ Likely relevant (language barriers and time constraints are persistent equity issues) Returning results to parents Specialist pathway mapping “And even the highly specialised services which the ones that are like dotted across the UK, I was of the understanding that [Genomics England] were going to speak to them all and work out who would be seen where and what and how, and that didn’t happen.” (I.7) ✓ Likely relevant (pathway coordination will be essential in routine implementation) Return of results process and training ‘I have to say we did think we will get more than what we are right now, I mean, at the moment that’s my impression, that we’re not getting as many positives as we thought we will. So that’s kind of manageable in a way’ (GIRR_001) ✓ Likely relevant (processes for returning results will remain central to delivery) Experiences of returning results “So I'm very used to giving genetic diagnoses to families. I work closely with – I do four or five clinics a year with the clinical geneticists.” (GIRR_006) “that one took up a lot of time and thought and, I won't say stress, but I was worried about calling up someone I'd never met before and potentially hitting them with really bad news, so yeah, it took a lot of time. [...] made sure that all the timings, all the appointments, you know, even from the clinic situation that they came to was like a quiet day” (GIRR_002) ✓ Likely relevant (in terms of additional workload to staff. However, unclear whether known maternity team or unknown specialist team would return results in routine care) Staff perceptions of parent engagement and communication of results Parent engagement “We can tell you what the result of this test is for your baby, so I think the fact that there’s a direct benefit to their child is making people more interested in participating.” (I.14) ✓ Likely relevant (perceived benefit influences engagement beyond research context) Communication with parents “I don't want to speak for them - but I think they are grateful to have a result and to understand their child better. And to allow things to be put into place that they wouldn't otherwise have had. I think it has come with a lot of anxiety and worry and concern about how they, what they do now, but I would say on balance they feel happier having the knowledge” (GIRR_003) ✓ Likely relevant (communication needs and emotional responses will persist in routine care) Staffing needs Staff training: Interviewees from local recruiting sites expressed a need for additional training sessions provided by Genomics England, highlighting the difficulties they had trying to train new staff at the same time as conducting the study. This challenge was also reported by a staff member during a site observation. Additionally, it was noted during interviews that taking cord blood samples was more difficult when new staff had not received training, as they were more likely to miss samples. During observations, it was noted that if a cord blood sample was missed following the birth, clinical members of the recruiting team could collect the sample later on, however if the parent and baby had already been discharged, then this required a member of the team to travel out into the community to collect the sample. Regional staff also communicated a need for additional training sessions. Two participants suggested more formal and, potentially, localised training was needed for results coordinators as roles and responsibilities differ between regions. Recruitment and retention of staff: Difficulties with staff recruitment and retention were mentioned by interviewees as a barrier to implementing the study. These recruitment difficulties were attributed to staff illness, and instances where weeks were spent training new staff members who were only available to their team for a short period of time. A lack of sustainable funding was also mentioned as a contributing factor to the difficulties with recruiting staff. Having research staff employed at the sites that were primarily focused on this study was cited as a key facilitator in the recruitment process and key to reaching implementation goals. Those who did not feel that they had sufficient staff reported that they struggled to recruit participants. This was also reported by staff during the observations. Administrative support: Interviewees and staff taking part in the observations suggested that increased administrative support would be beneficial to the implementation of the study, as it would allow research staff at the sites to focus their efforts on engaging and consenting participants. Administrative support at a regional level was also thought to be important. For example, one participant felt that an administrator at a regional level would be best placed to monitor parents enrolled in the study to track when they gave birth, whether their cord blood sample was taken and share reminders to the local teams (if needed) to prevent the backup heel prick test being missed. Engagement with the wider clinical workforce Engaging clinical staff: Interviewees and observation participants reported that having a clinical team that is engaged and enthusiastic about the study, especially clinical staff who have an existing rapport with parents, was a key facilitator in the study implementation. Interviewees also suggested that clinical staff concerns (i.e. staff capacity, ethical concerns regarding data use) were a barrier to engagement and in order to overcome these barriers, they included these staff in planning discussions. Support from senior stakeholders: Interviews and observations identified that support from those in senior roles (such as the budget holder, ward matron, and director of midwifery) was a key enabler to study implementation and was a barrier when it was missing. During observations, staff at some of the sites commented that they faced challenges putting up recruitment materials in certain areas of the hospital, as senior stakeholders would not sign this off. At one site, it was reported that because of another study occurring at the same time, they were unable to approach parents who had already consented to that study. Institutional support for implementation Genomics England involvement: Site implementers, on the whole, were happy with the level of support and communication from Genomics England, indicating that Genomics England had helped with problems and queries, and were receptive to feedback provided by the sites. However, some messaging was perceived less positively, with one participant sharing they felt like they were working at a very high level and would struggle to meet the workload expectation of Genomics England. During observations, two of the sites discussed the target recruitment number and commented that they thought it would be challenging to meet the proposed target, because they were struggling to fit in all the administrative related tasks alongside the recruitment activities. Additionally, some interviewees faced challenges with communicating with Genomics England, noting that the helpdesk did not respond quickly enough to urgent queries. Regional involvement: Interviewees at the local sites had mixed responses on their communication with regional leads. Some felt that there was good communication and support between these teams, while other local sites were unclear on the role of the regional team and had limited contact with them. Resources Resources provided by Genomics England: Interviewees were mostly happy with the parent recruitment materials provided, with one saying they wished they had more merchandise to hand out. This was also reported by one of the sites during the observations. However, it was also mentioned that some of the internal documents provided around conditions being tested for had errors in them and multiple versions were provided, which caused confusion amongst recruiting staff. It was suggested that providing tablets instead of laptops would be beneficial as they are more portable and easier to sanitise. During the observations, it was noted that the team at one site had received updated participant facing materials from Genomics England, which meant that the existing materials around the hospital needed to be replaced. It was noted that administrative-related activities such as this need to be factored into the teams’ schedules. Study portals: Some participants also reported having issues accessing information within the study portal. They mentioned that a point of contact or meetings with Genomics England were needed in addition to or instead of logging queries in the study portal. During the observations, implementers across all sites were working with the same study portal and then different site-specific interfaces. Staff being observed reported that this took a lot of time and that there was room for error when manually entering and transferring different participant codes and information between the portal and their site-specific database. They reported this potential for error was likely to increase with the increase in samples they worked with. Supporting equitable recruitment Challenges of equitable recruitment: Both local site and regional interviewees raised concerns that to reach recruitment targets, approaches leaned towards less time-consuming methods that do not facilitate diverse recruitment, a point also reported during the observations at sites. The potential for digital disparity was also reported during the observations, as most study materials are online, which people with poor digital literacy could struggle with. More resources for, and investment in, the recruitment of staff was suggested as an approach that would allow for an increased focus on equitable recruitment. Language barriers: The ability to bridge language barriers and cultural differences was mentioned as a key factor in the facilitation of equitable recruitment. Interview participants found that the materials provided in different languages were helpful, but also mentioned that the languages available did not reflect their local population and suggested that having an increased range of languages would be beneficial. This point was reiterated during the observations at sites. Recruiters at one site wanted to reach out to potential participants in the community, but due to staffing numbers this was not possible. During the observations, one site shared examples of how they had tried to reach parents in the community (for example, by attending a Sikh temple, a Pakistani community centre, a shopping centre, and parent education classes). Another site shared that they had plans to go to health centres in postcodes in their region with high levels of socio-economic deprivation to share information about the study. A third site also shared that they hoped to go out into the community soon to recruit participants. Interviewees also indicated that they needed support in additional languages, to be able to best reach all potential participants. The ability to spend time talking with parents’ one-on-one was stated to be especially important for those with minimal English or poor literacy skills. This was also reported during the observations. Returning results to parents Specialist pathway mapping process: Specialist clinicians involved in the care of families with conditions in the Generation Study were mapped so they could be called on to return the results to parents as needed. Return of results coordinators reported mixed experiences of this specialist mapping process. Some interviewees indicated that the clinicians they contacted were happy to help, while others reported encountering resistance. Some participants indicated that Genomics England had been responsive about the specialist mapping process, while others expressed the desire for increased support. Return of results process and training: Staff reported that the process and support from Regional Results Coordinators for returning results worked well. Several participants reported that they felt they did not require additional training as returning results was already part of their day-to-day activities. Clinicians were aware of the information sheets and guidance on contacting parents developed as part of the Generation Study and described information sessions delivered through the GMSA. Several participants expressed that they had initially been concerned about the impact the Generation Study would have on their workload but felt the number of results to be returned was ‘manageable’. Experiences of returning results For participants returning a result that was already on the bloodspot programme the process of returning the Generation Study result was seen as straightforward. Returning results “out of the blue” was reported by some to be challenging as they had not had any previous contact with the family. For example, one clinician described needing preparation time to ensure that supporting these parents was prioritised, another described being flexible to allow both parents to join the initial call. Staff perceptions of parents’ engagement and communication of results Parent engagement: Staff outlined various reasons for parental participation in the program, along with specific examples shared by the parents themselves (Table 2).Key motivators were a desire to take advantage of any additional tests on offer, feeling that taking part could benefit their child directly through accessing treatment early, and/or for reassurance that their baby did not have one of the conditions being looked for. Table 2 . Staff perspectives on the reasons parents consented to take part in the gNBS programme Reasons for consenting To access treatment for their child as early as possible "From the women who do give a reason, they kinda see it as why wouldn’t I… if it means that if anything is wrong, my baby can receive early treatment." (I.13) To take advantage of any additional tests available "People just think it’s a really good thing to have more testing, generally." (I.4) To contribute to research and therefore to benefit people in the future “they actually love the idea and they hope it will be a benefit for the future as well.” (I.20) Because a family member has been affected by a condition “Certainly people who’ve experienced things in their families already, actually want to know. They want to know a lot of this information and are very happy to take part." (I.9) For reassurance when a negative result is received “I guess it’s reassurance if they do get a negative screen.” (I.15) Because they work in genomics or research “if they're researchers themselves” (I.19) There is a direct benefit for their baby "we can tell you what the result of this test is for your baby, so I think the fact that there’s a direct benefit to their child is making people more interested in participating." (I.14) Because it is non-invasive "the fact that it's non-invasive is a really big thing" (I.4) Because of family influence “Sometimes the ladies’ partners are more interested to know those conditions.” (I.12) Participants also identified several reasons for parental hesitation or refusal to participate (Table 3).The most frequently cited reasons were related to how long the data would be stored, what the genomic data would be used for and how taking part might affect their insurance. Other reasons included not wanting to participate in research, mistrust in research generally, concerns around the anonymisation of data and/or religious beliefs. Interviewees noted that mistrust in research was not an issue unique to this study. Historical and cultural reasons were also mentioned as potentially contributing to parents’ reluctance to enrol, which may also impact the diversity of the participants. Staff expressed that many parents do not give a reason as to why they don’t want to take part in the study. Some of the findings relating to reasons parents decline to take part in the programme were supported by the observations. Across the sites where observations took place, the evaluation team only observed three parents decline. This was at the point when one of the staff approached parents to share study information with them. Two of the declines were due to mothers not having enough time to digest the study information as they were having contractions when approached, and the third parent did not share their reason for not wanting to consent to the study after reading the participant information sheet. Table 3 . Staff perspectives on the reasons parents have concerns or decline to take part in the programme Reasons for declining and concerns about the programme Research participation Not wanting to participate in research "most of the people…here [are ethnic minorities]. And they are not much keen to participate in any type of research" (I.12) Worries about genetics '"A lot of people when they hear ‘genetics’ worry because it’s all stuff they don’t really understand." (I.18) Perceived study burden "some women, they have a lot of anxiety during pregnancy, so they don’t want to have this further, they call it burden" (I.20) Data use and handling Concerns around data being sold ”We have people asking ‘oh, will that information get sold?’’” (I.17) Concerns around length of data storage "the things which patients are concerned [about] are that the study is for sixteen years” (I.3) Concerns about how leftover blood sample will be used “what exactly [is] the rest of the blood used for.” (I.3) Concerns around data anonymisation "The biggest query has been the data, the anonymisation of the data (I.1) Concerns around data protection "most of the questions I've had have been surrounding data protection" (I.19) “there have been a few women, men and women, parents that have said ‘who are you going to tell about my baby?’." (I.1) Religion Due to religious beliefs or the influence of religious leaders "[a parent shared that an] Imam [told them] that they can't join the study or they shouldn’t join the study because God has blessed them with this child. " (I.27) Implications of participating Concerns around how it will impact insurance "there have been people, they’re like ‘Will it affect my insurance in the future?’" (I.11) Concerns around length of time waiting for results "I think people’s main concerns in the study is data and the length of time that you get your results back." (I.11) Not wanting to know results "Yeah, decline for the data reasons and about the results. They don’t want to see the results." (I.12) Due to the requirement for an additional heel prick test if cord blood is missed "And we’ve had four withdrawals because the cord blood was missed and they didn’t want the heel prick done” (I.4) Disliked consenting on behalf of their child "consenting on behalf of a child for such a long time, that’s what people don’t like. " (I.16) Family influence Conflicting views between parents "they would like to know but their partners just don’t" (I.24) Communication of results to parents: Participants returning a variety of results, including condition confirmed results, false positive results, results for conditions that are included in the existing newborn screening bloodspot programme, and results for conditions that are only included in the Generation Study. Overall, experiences of parents described by clinicians returning results were varied and depended on individual circumstances and the results themselves. For example, some families where the child was symptomatic were relieved to have a diagnosis. In contrast, for a family whose result was out of the blue, a period of adjustment was described, before parents reached a point of feeling the value of having the result. One clinician described needing preparation time to ensure that supporting these parents was prioritised, another described being flexible to allow both parents to join the initial call. Another interviewee described a family where the child was asymptomatic and highlighted that the “burden” for the family would come when the child started to show clinical signs. Discussion Our study explored staff experiences of implementing the Generation Study in England during the early stages of implementation. Our interviews and observations highlighted key barriers and enablers in implementation. Gaps in staff training, high turnover, difficulties recruiting new members of staff and issues accessing study portals were identified as barriers in implementation. Issues related to the upskilling of staff have been mentioned in evaluations of programmes introducing genomic tests into clinical practice and authors have recommended training approaches focused on consistency, multidisciplinary teamworking and case-based learning [ 20 , 21 ]. Our findings can be interpreted through key implementation science frameworks. Using the CFIR, barriers such as staffing constraints, administrative burden and IT inefficiencies reflect challenges within the inner setting, while recruitment targets and national programme priorities illustrate outer setting pressures that at times conflicted with the need for equitable engagement. Individual-level variation in clinicians’ confidence and beliefs about genomics further influenced implementation. From a NPT perspective, staff demonstrated strong engagement driven by perceived patient benefit, but coherence was limited by uncertainty around roles and processes, and collective action was constrained by resource and infrastructure limitations, requiring local workarounds. Across both frameworks, a key cross-cutting tension emerged between efficiency-driven implementation and the delivery of equitable, inclusive practices, highlighting a critical consideration for the scale-up of gNBS. In our study, staff sought to maintain close and open communication with parents and this was facilitated by the ability to bridge language barriers and having time to discuss information with parents on a one-to-one basis. Recruiting participants who were not fluent in English was an ongoing challenge for staff, so the ability to overcome this barrier through translated study materials and use of interpreters was highlighted as an important achievement. Clinician-patient communication has been identified as a central component of the implementation of genomic screening programmes, with some studies suggesting the need for genetic counselling services and decision aids to help translate complex information to patients, taking into consideration the need for different levels of support [ 22 , 23 ]. Recent studies of gNBS programmes identified equitable access for diverse populations as one of the key factors that need to be taken into consideration in the integration of these types of programmes in routine care [ 24 – 26 ]. Our study sheds further light on this issue as staff reported prioritizing meeting targets in terms of recruitment numbers rather than maintaining diversity within participant groups (which required addressing language barriers and mistrust). In our study, staff experiences of implementation were mainly positive. Engaged clinical staff, support from senior stakeholders, and close contact with Genomics England were identified as the main factors enabling implementation. Staff highlighted that having more administrative support would help with recruitment. Administrative support for recruitment should be considered in light of a healthcare system where staff are under constant pressure. Should the gNBS be integrated into routine clinical practice in England in the future, staffing shortages as well as lack of qualified clinical personnel could create tangible barriers to its adoption. In light of similar staffing issues and limitations in the ability of the clinical genomic workforce to deal with patient demand, programmes in other countries, such as Australia, have started to explore the use of digital platforms for patient education, decision aid, consent and the return of results in gNBS [ 24 ]. It will be important to explore whether similar platforms could be implemented in England in the future. Staff perceptions of the reasons why parents accepted the invitation to take part in the study included taking advantage of the opportunity to have access to additional tests as well as reassurance regarding their babies’ health. This confirms previous studies that have identified peace of mind as a key driver behind parents’ decision to participate in gNBS [ 27 ]. In our study, staff indicated that parents declined participation in gNBS due to concerns about data use and storage, feelings of mistrust related to research, impact of the results on their insurance and unwillingness to know the results of the test. These reasons have been reported in previous studies on gNBS programme implementation [ 28 ] as well as wider research on reasons why patients decline participation in research and clinical trials [ 29 ]. A key consideration in interpreting these findings is the distinction between challenges associated with implementing the Generation Study as a research programme and those relevant to the future delivery of gNBS as a routine clinical service. While some barriers—particularly those related to recruitment processes and target-driven delivery—reflect the requirements of a research context, many of the challenges identified, including workforce capacity, data infrastructure, workflow integration, and equitable access, are likely to remain central to large-scale implementation. The inclusion of an implementation-focused interpretation within Table 1 is intended to support this distinction and to highlight which findings may be transferable to future service design. The findings of this study should be considered in relation to its limitations. Even though we used a purposive sampling approach with a sampling framework, we might have missed relevant points of view. The findings included in this manuscript refer to an early implementation stage of the gNBS programme, our evaluation continues to document subsequent stages in implementation where the experiences of staff delivering the programme might change as the study embeds. The findings included in this manuscript are from interviews with staff. Our evaluation is currently documenting the views of parents and their experiences will be reported in a separate paper. Conclusions This study is the first process evaluation of the implementation of a gNBS programme in England. In its early stages, we captured positive experiences from staff delivering the programme as well as the factors that led to its successful implementation at sites amongst the first to recruit to the Generation Study. Over the coming year, we will continue documenting implementation processes across the same sites with the purpose of identifying changes in staff experiences and the factors acting as barriers and enablers in implementation. We will also capture parents’ experiences of consenting to take part in the study as well as reasons for decline. We hope that these future analyses will shed light on the particular challenges of consenting this patient population and parents’ experiences of receiving results. Declarations Acknowledgements We are very grateful to the participants who took part in this study. Data availability statement The data generated for this study can be found within the published article and its supplementary files. Additional data cannot be shared to protect the identity of study participants. Author contributions All authors contributed to the study design and the writing of the manuscript. SC, KG, EB, GB and AM carried out data collection and analysis for the study and were supervised by CVP, MH, FB and CL. Funding This report presents independent research commissioned by Genomics England. CVP, SC, KG, EB and GB were partially supported by the NIHR Central London Patient Safety Research Collaboration (CL PSRC), reference number NIHR204297. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The NIHR Great Ormond Street Hospital (GOSH) Biomedical Research Centre (BRC) also part funds Melissa Hill. The views expressed are those of the author(s) and not necessarily those of the NIHR Genomics England, the NHS or the Department of Health and Social Care. Competing interests The authors declare that they do not have any competing interests in relation to the work described in this manuscript. References Alarcón Garavito, G. A., Moniz, T., Deom, N., Redin, F., Pichini, A., & Vindrola-Padros, C. (2023). The implementation of large-scale genomic screening or diagnostic programmes: a rapid evidence review. European Journal of Human Genetics, 31(3), 282-295. Ceyhan-Birsoy O, Murry JB, Machini K, et al. Interpretation of genomic sequencing results in healthy and ill newborns: Results from the babyseq project. Am J Hum Genet 2019;104(1):76-93. Bick, D., Ahmed, A., Deen, D., Ferlini, A., Garnier, N., Kasperaviciute, D., ... & Scott, R. H. (2022). Newborn screening by genomic sequencing: opportunities and challenges. International Journal of Neonatal Screening, 8(3), 40. Damschroder LJ, Reardon CM, Widerquist MAO, Lowery J. The updated Consolidated Framework for Implementation Research based on user feedback. Implement Sci. 2022 Oct 29;17(1):75. doi: 10.1186/s13012-022-01245-0. PMID: 36309746; PMCID: PMC9617234. Downie, L., Halliday, J., Lewis, S., & Amor, D. J. (2021). Principles of genomic newborn screening programs: a systematic review. JAMA network open, 4(7), e2114336. Downie, L., Caruana, J., Kugenthiran, N., Kanga-Parabia, A., Tutty, E., Bombard, Y., ... & Stark, Z. (2026). Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study. npj Genomic Medicine. https:// doi.org/10.1038/s41525-026-00551-6 Gale, N. K., Heath, G., Cameron, E., Rashid, S., & Redwood, S. (2013). Using the framework method for the analysis of qualitative data in multi-disciplinary health research. BMC medical research methodology, 13(1), 117. Gold, N. B., Omorodion, J. O., Del Rosario, M. C., Rivera‐Cruz, G., Hsu, C. Y., Ziniel, S. I., & Holm, I. A. (2025). Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. Journal of Genetic Counseling, 34(2), e1994. Horton, R., & Lucassen, A. (2023). Ethical issues raised by new genomic technologies: the case study of newborn genome screening. Cambridge Prisms: Precision Medicine, 1, e2. Leblond M, Galati M, Roberts J, Etheredge H, Willacy N, Özkurt Ö, Pichini A. Co-Creating the Experience of Consent for Newborn Genome Sequencing: The Generation Study. Public Health Genomics. 2024;27(1):210-227. doi: 10.1159/000541935. Epub 2024 Oct 11. PMID: 39396502. Lewis, C., Boardman, F., Buchanan, J., Clark, S., Gilchrist, K., Hardelid, P., ... & Hill, M. (2024). Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A study protocol for the Generation Study-Process and Impact Evaluation. medRxiv, 2024-05. Lewis ACF, Brown G; GA4GH Working Group on genomic newborn screening; Bombard Y. Navigating ethical, legal and social implications in genomic newborn screening. Nat Rev Genet. 2026 Feb 4. doi: 10.1038/s41576-026-00936-4. Epub ahead of print. PMID: 41639388. McClaren BJ, Crellin E, Janinski M, Nisselle AE, Ng L, Metcalfe SA, et al. Preparing medical specialists for genomic medicine: continuing education should include opportunities for experiential learning. Front Genet [Internet]. 2020;11. Available from: https://www.frontiersin.org/article/10.3389/fgene. 2020.00151/full Milko LV, Rini C, Lewis MA, et al. Evaluating parents' decisions about next-generation sequencing for their child in the nc nexus (north carolina newborn exome sequencing for universal screening) study: A randomized controlled trial protocol. Trials 2018;19(1):344. Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. PMID: 40357684; PMCID: PMC12229768. Murray E, Treweek S, Pope C, MacFarlane A, Ballini L, Dowrick C, Finch T, Kennedy A, Mair F, O'Donnell C, Ong BN, Rapley T, Rogers A, May C. Normalisation process theory: a framework for developing, evaluating and implementing complex interventions. BMC Med. 2010 Oct 20;8:63. doi: 10.1186/1741-7015-8-63. PMID: 20961442; PMCID: PMC2978112. Pavey AR, Bodian DL, Vilboux T, et al. Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. Genet Med 2017;19(12):1367-1375. Riaz M, Tiller J, Ajmal M, Azam M, Qamar R, Lacaze P. Implementation of public health genomics in Pakistan. Eur J Hum Genet [Internet]. 2019;27:1485–92. http://www.nature.com/articles/s41431-019-0428-z Roman TS, Crowley SB, Roche MI, et al. Genomic sequencing for newborn screening: Results of the nc nexus project. Am J Hum Genet 2020;107(4):596-611. Simpson S, Seller A, Bishop M Using the findings of a national survey to inform the work of england’s genomics education programme. Front Genet [Internet]. 2019;10. Available from: https://www.frontiersin.org/article/10.3389/ fgene.2019.01265/full Smits, S. G., Onstwedder, S. M., Rigter, T., Rodenburg, W., & Henneman, L. (2026). Public and parent perspectives on genomic sequencing in newborn screening: a scoping review. European Journal of Human Genetics, 1-12. Snir M, Nazareth S, Simmons E, Hayward L, Ashcraft K, Bristow SL, et al. Democratizing genomics: Leveraging software to make genetics an integral part of routine care. Am J Med Genet Part C Semin Med Genet [Internet]. 2021;187:14–27. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31866 Spiekerkoetter, U., Bick, D., Scott, R., Hopkins, H., Krones, T., Gross, E. S., & Bonham, J. R. (2023). Genomic newborn screening: are we entering a new era of screening?. Journal of inherited metabolic disease, 46(5), 778-795. Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet 2023;10.1038/s41576-023-00621-w. Tutty, E., Kanga-Parabia, A., Kugenthiran, N., Caruana, J., Downie, L., Gaff, C., ... & Archibald, A. D. (2026). Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study. European Journal of Human Genetics, 1-8. Vindrola-Padros, C., Chisnall, G., Cooper, S., Dowrick, A., Djellouli, N., Symmons, S. M., ... & Johnson, G. A. (2020). Carrying out rapid qualitative research during a pandemic: emerging lessons from COVID-19. Qualitative health research, 30(14), 2192-2204. Vindrola-Padros, C., Gilchrist, K., Braverman, S., Omar, R., Merivale, E., Hussenbux, A., ... & Yu, R. (2025). A mixed-methods study on the recruitment of patients from ethnic minority groups to clinical trials in a central London teaching hospital. Contemporary Clinical Trials Communications, 45, 101475. Vu, M. et al. The Costs of Genomic Newborn Screening in England: A Micro-Costing Analysis from the Generation Study. Genetics in Medicine, 2026, in press. Ziegler, A., & Chung, W. K. (2025). Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatric Research, 97(4), 1315-1319. Additional Declarations There is no duality of interest Supplementary Files Appendix2.docx Appendix 2-structured observation guide Appendix1.docx Appendix 1-interview topic guide Cite Share Download PDF Status: Under Review Version 1 posted Review # 1 received at journal 01 May, 2026 Reviewer # 1 agreed at journal 23 Apr, 2026 Reviewers invited by journal 23 Apr, 2026 Submission checks completed at journal 22 Apr, 2026 First submitted to journal 22 Apr, 2026 Unknown event 21 Apr, 2026 Editor assigned by journal 18 Apr, 2026 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. 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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-9456097","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":628581817,"identity":"aca71023-6b5b-45e9-82ba-3ad66603f6a0","order_by":0,"name":"Cecilia 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11:25:21","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9456097/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9456097/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":109249828,"identity":"76e16c68-f4b3-4764-8a60-9c797cf367f9","added_by":"auto","created_at":"2026-05-14 09:04:30","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":275753,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9456097/v1/231d95be-41ec-473f-b160-97c24ebf523e.pdf"},{"id":109249204,"identity":"65cd1835-e568-441a-befc-6dbf13f8dfd4","added_by":"auto","created_at":"2026-05-14 08:43:59","extension":"docx","order_by":3,"title":"","display":"","copyAsset":false,"role":"supplement","size":25603,"visible":true,"origin":"","legend":"Appendix 2-structured observation guide","description":"","filename":"Appendix2.docx","url":"https://assets-eu.researchsquare.com/files/rs-9456097/v1/f99bb0e48e587a0212aea5db.docx"},{"id":108450994,"identity":"2d72d660-f6b5-4761-97a3-c1a6e8adb705","added_by":"auto","created_at":"2026-05-04 19:31:09","extension":"docx","order_by":4,"title":"","display":"","copyAsset":false,"role":"supplement","size":36080,"visible":true,"origin":"","legend":"Appendix 1-interview topic guide","description":"","filename":"Appendix1.docx","url":"https://assets-eu.researchsquare.com/files/rs-9456097/v1/08e1a599431d6b7b878167f2.docx"}],"financialInterests":"There is no duality of interest","formattedTitle":"The implementation of a national genomic newborn screening programme in the English NHS: Early lessons from the Generation Study","fulltext":[{"header":"Introduction","content":"\u003cp\u003eThe role of genomics in healthcare is expanding rapidly and there is a growing interest in the possibility of using genomic sequencing to expand current newborn screening programmes (Stark and Scott 2023). Newborn screening aims to identify infants at risk of having an inherited or congenital condition before symptoms arise, and early diagnosis enables earlier management, which may ultimately improve clinical outcomes and quality of life (Spiekerkoetter et al. 2023). \u003c/p\u003e\n\n\u003cp\u003eOffering routine genomic newborn screening (gNBS) would allow newborn screening to include a much broader range of rare conditions, but there are still many technical, practical, psychosocial, ethical and cost challenges that need to be addressed (Bick et al. 2022; Downie et al. 2021; Lewis et al. 2026). Countries seeking to integrate gNBS programmes into routine care will need to consider the challenges associated with large-scale genomic screening (i.e., generating laboratory capacity, training staff and educating participants) as well as additional issues generated by working with a newborn patient population throughout their life course (where parents provide consent and not the participant) (Alarcon Garavito et al. 2022; Horton and Lucassen 2022). \u003c/p\u003e\n\n\u003cp\u003eA growing number of prospective cohort studies where gNBS has been offered and results returned have been described (Minten et al. 2025; Ceyhan-Birsoy et al. 2019; Milko et al. 2018; Pavey et al. 2017; Roman et al. 2020). In England, Genomics England have established the Generation Study in partnership with the National Health Service (NHS) in England to deliver gNBS for 100,000 births from October 2024 to 2027 (Leblond et al. 2024). The Generation Study aims to explore the benefits, challenges, and practicalities of offering genome sequencing for newborns to accelerate diagnosis and access to treatment for rare genetic conditions. The baby\u0026rsquo;s genome is analysed for over 200 childhood-onset genetic conditions for which there is evidence that early intervention improves outcomes, and where there is an early-childhood intervention available through the NHS. The Generation Study is delivered through NHS Hospital Trusts with maternity services, with onboarding of new Trusts done progressively. Parents are approached to join the Generation Study before birth. Potential diagnoses are reviewed by a case manager at Genomics England and a regional results coordinator from the local Genomic Medicine Service Alliance (GMSA), in liaison with clinicians. Results are returned to parents via routine NHS pathways, with support from the NHS Genomic Medicine Service.\u003c/p\u003e\n\n\u003cp\u003eWe are conducting an independent process and impact evaluation of the Generation Study to assess the feasibility, acceptability, impact, experiences and attitudes of parents and healthcare staff, and to understand the associated costs (Vu et al. 2026) and clinical utility of sequencing in this context (Lewis et al. 2024). One component of this study is an evaluation of the process of implementing the Generation Study. In this evaluation, we examined the factors acting as barriers and enablers across NHS settings from a staff perspective, while also considering which findings are specific to the delivery of the Generation Study as a research programme (identifying factors applicable to the future integration of gNBS in routine care). This manuscript presents findings from the early stages of the implementation of the Generation Study to facilitate the rapid sharing of lessons learnt at a global scale. We will continue documenting and evaluating processes of implementation until March 2028. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eResearch questions\u003c/strong\u003e\u003c/p\u003e\n\n\u003cp\u003eThe research questions guiding the study were:\u003c/p\u003e\n\n\u003col\u003e\n\u003cli\u003eWhat factors do staff identify as barriers and enablers in the implementation of the Generation Study? Which of these are likely to be relevant to future routine clinical implementation?\u003c/li\u003e\n\u003cli\u003eWhat are staff experiences of and attitudes towards delivering the Generation Study?\u003c/li\u003e\n\u003cli\u003eWhat are staff perceptions of parents\u0026rsquo; engagement with the Generation Study? What implications do these have for future implementation in routine care?\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Study design","content":"\u003cp\u003eThe study was designed as a process evaluation based on qualitative research methods to document processes and gather experiences of implementation. Rapid feedback loops were embedded to share findings with implementers and national leaders as the evaluation was ongoing. Data collection instruments and analysis were informed by the Consolidated Framework for Implementation Research (CFIR) (Damschroder et al 2022) and Normalisation Process Theory (NPT) ) (Murrey 2010). Both theories facilitated the identification of components that acted as barriers and enablers in the implementation of complex interventions.\u003c/p\u003e\n\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eMethods\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eData collection\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eWe carried out semi-structured interviews with staff involved in delivering the Generation Study, including site principal investigators, study coordinators and research nurses and midwives. Interviewees were based in six early adopter sites with diverse geographies and local populations. We also interviewed helpdesk staff from Genomics England, regional results coordinators and clinicians involved in returning results. The interviews were carried out by phone or video call, and delivered using an interview guide that covered tasks and time commitments, challenges and facilitators to implementation, and the reasons parents accept or decline gNBS (see Appendix 1). The interviews lasted an average of 60 minutes, were digitally recorded, professionally transcribed verbatim and then de-identified. \u003c/p\u003e\n\n\u003cp\u003eParticipant and non-participant observations were carried out in the clinical areas of the six NHS sites. We shadowed staff undertaking tasks related to the implementation of the Generation Study, including obtaining consent, general study management and relevant meetings. A structured observation guide was used to record field notes to ensure consistency in data collection across researchers and sites (see Appendix 2). \u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eRecruitment and sample characteristics\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eA key contact at each NHS site suggested colleagues who had a role in implementing the Generation Study (following a purposive sampling approach guided by a pre-established sampling framework designed to capture a wide range of perspectives). Participants were recruited until data saturation was reached. Clinicians involved in returning results to parents were identified and initially invited to participate through Genomics England. Participants were invited to take part in a semi-structured interview via email, which included a Participant Information Sheet that described the purpose of the interviews. Participants read and signed a consent form stored securely on RedCap and had the opportunity to ask questions prior to the interviews.\u003c/p\u003e\n\n\u003cp\u003eObservations were completed at the six sites between August 2024 and March 2025 by SC (n=5) and GB (n=1). Staff interviews were undertaken between 08 August 2024 and 21 March 2025 by SC, KG, AM, GB and EB. Clinicians involved in returning results to parents were recruited between 12 May 2025 and 23 February 2026. Pseudonyms were assigned to participants.\u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eData analysis\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eWe used both rapid qualitative data analysis and in-depth analysis. Analysis was carried out in parallel with data collection and facilitated through interview notes and RREAL sheets; a working document where high level data are organised into categories (Vindrola-Padros et al. 2020). During the interviews and observations, the researchers took notes that were summarised and organised in the RREAL sheet immediately after each data collection episode. The RREAL sheets were then used to summarise and share emerging findings on an ongoing basis. The RREAL sheets were also used to identify topics to be explored further using in-depth analysis. For in-depth analysis, data from the interviews and observations were analysed using framework analysis (Gale et al. 2013) with open codes and the domains of the CFIR and NPT. This is an approach that facilitates identification of key themes as well as commonalities and differences in the data through comparison within and across cases. \u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eGovernance\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eThe study was reviewed and approved by the HRA and the East of England \u0026ndash; Cambridge\u003c/p\u003e\n\u003cp\u003eCentral NHS REC (23/EE/0044).\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003eA sample of 38 members of staff involved in delivering the Generation Study were interviewed. These included staff working at six local sites (n=30) who were involved in study recruitment and enrolment, staff working at a regional level (n=7) who were responsible for coordinating return of results, and a member of staff at Genomics England (n=1) who provided site support. Eleven clinicians involved in returning results to parents were also interviewed.\u003c/p\u003e\n\n\u003cp\u003eWe grouped the main study findings according to the following themes: staffing needs, engagement with the wider clinical workforce, institutional support for implementation, resources for implementation, supporting equitable recruitment and staff perceptions of parents\u0026rsquo; engagement. The key themes, sub-themes, illustrative quotes and likely relevance of the finding to routine gNBS implementation are presented in Table 1. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eTable 1\u003c/em\u003e\u003c/strong\u003e. Summary of themes from the interviews and observations \u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"652\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eThemes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubthemes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eIllustrative quotes\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eLikely relevance to routine gNBS implementation\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"3\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eStaffing needs\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eStaff training \u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I think what\u0026rsquo;s made it difficult and challenging has been the staffing because you\u0026rsquo;re trying to run a study and then train these staff which is not ideal, and when you\u0026rsquo;ve already got limited staff that makes things really difficult.\u0026rdquo; (I.4)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e / \u003c/em\u003e\u003cem\u003e✗\u003c/em\u003e\u003cem\u003e Mixed (workforce capacity and training needs will persist although unlikely to include research staff)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eRecruitment and retention of staff \u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I asked for some help and they sent someone from the Clinical Research Network (funded by the NIHR) for a period of four weeks who, by the time I\u0026rsquo;d trained them, they couldn\u0026rsquo;t get access to any of our computer systems, they didn\u0026rsquo;t have logons, by the time that they\u0026apos;d got a logon to a computer it was two weeks into their time.\u0026quot; (I.6)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e / \u003c/em\u003e\u003cem\u003e✗\u003c/em\u003e\u003cem\u003e Mixed (staffing constraints and onboarding delays are system-level issues although staff turnover may not be as acute in routine care)\u003c/em\u003e\u003c/p\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eAdministrative support\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I think there\u0026rsquo;s still more to be done to support recruitment. And some teams are still waiting for admin people, clinical trials assistants to join. And I think that will just support their capacity.\u0026quot; (I.10)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e / \u003c/em\u003e\u003cem\u003e✗\u003c/em\u003e\u003cem\u003e Mixed (administrative support will remain necessary, though roles may differ)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eEngagement with the wider clinical workforce\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eEngaging clinical staff\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Overall barriers for this type of study - there are some groups of the clinicians which are concerned about these types of studies, about ethical issues, about NHS issues, about complexity of whole genome, information from whole genome.\u0026quot; (I.3)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (clinician engagement and attitudes will influence adoption)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eSupport from senior stakeholders\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Just reluctance to engage really from the research governance infrastructure within the Trust, in particular concerns about whether or not the existing research nurse/midwife team in our maternity services would be overwhelmed if we took this study on.\u0026rdquo; (I.2)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (leadership and institutional buy-in are critical for scale-up)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eInstitutional support for implementation\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eGenomics England involvement (national level)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;[Genomics England] has been unbelievably helpful. They are unbelievably receptive. Sorting problems pretty much immediately.\u0026rdquo; (I.3)\u003c/em\u003e\u003c/p\u003e\n \n \u003cp\u003e\u0026ldquo;\u003cem\u003eI personally called the GEL emergency contact details\u0026hellip;I was waiting for this answer for two days. And I also raised it with the helpdesk query stating urgent\u0026hellip;Until now the query has not been answered.\u0026rdquo; ( I.25)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (national coordination and responsiveness will remain important)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eRegional involvement\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;The [regional team] we are not in much contact with them. And at the beginning, we did not understand who [they were]... Slowly we understood that OK [they are a team] handling the research and also the Results Coordinator.\u0026rdquo; (I.12)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (clarity of regional roles and coordination will be required in routine care)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eResources for implementation\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eResources provided by Genomics England\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;At the moment we\u0026hellip;carry a bit of a clunky laptop around and I just think having a tablet with the information that we can show them in different languages and then being able to consent on that tablet would be really helpful, because we so rarely actually have a clinical room that we can take a patient into.\u0026rdquo; (I.15)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (equipment and consent/delivery tools will shape feasibility in practice)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eStudy portals\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;when we put patients on the system they go into this black hole, we don\u0026rsquo;t see \u0026ndash; you can\u0026apos;t run reports...everything has to be backed up with individual screening logs because you can\u0026apos;t just search things very easily.\u0026quot; (I.16)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (data systems and interoperability are critical for scale-up)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSupporting equitable recruitment\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eChallenges of equitable recruitment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Obviously there\u0026rsquo;s the financial incentive to hit a target of at least 100 [participants] per month so\u0026hellip;last month, we overachieved on our target and this month, because we\u0026rsquo;re running on one or two members of staff a day, we\u0026rsquo;re not going to hit our target, so I have made the decision yesterday with the PI that we\u0026rsquo;re not going to approach women in inpatient areas until the end of the month, we are only going to approach self-referrals\u0026quot; (I.16).\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e / \u003c/em\u003e\u003cem\u003e✗\u003c/em\u003e\u003cem\u003e Mixed (target-driven recruitment is research-specific, but equity trade-offs may persist)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eLanguage barriers\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;one barrier has been people who don\u0026rsquo;t speak or understand English...it shouldn\u0026rsquo;t be a barrier in the sense we have in-house translators and stuff but in the real world, because it takes longer, it is a bit of a barrier.\u0026rdquo; (I.21)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (language barriers and time constraints are persistent equity issues)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"3\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eReturning results to parents\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eSpecialist pathway mapping\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;And even the highly specialised services which the ones that are like dotted across the UK, I was of the understanding that [Genomics England] were going to speak to them all and work out who would be seen where and what and how, and that didn\u0026rsquo;t happen.\u0026rdquo; (I.7)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (pathway coordination will be essential in routine implementation)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eReturn of results process and training \u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026lsquo;I have to say we did think we will get more than what we are right now, I mean, at the moment that\u0026rsquo;s my impression, that we\u0026rsquo;re not getting as many positives as we thought we will. So that\u0026rsquo;s kind of manageable in a way\u0026rsquo; (GIRR_001)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (processes for returning results will remain central to delivery)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eExperiences of returning results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;So I\u0026apos;m very used to giving genetic diagnoses to families. I work closely with \u0026ndash; I do four or five clinics a year with the clinical geneticists.\u0026rdquo; (GIRR_006)\u003c/em\u003e\u003c/p\u003e\n \n \u003cp\u003e\u003cem\u003e\u0026ldquo;that one took up a lot of time and thought and, I won\u0026apos;t say stress, but I was worried about calling up someone I\u0026apos;d never met before and potentially hitting them with really bad news, so yeah, it took a lot of time. [...] made sure that all the timings, all the appointments, you know, even from the clinic situation that they came to was like a quiet day\u0026rdquo; (GIRR_002)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (in terms of additional workload to staff. However, unclear whether known maternity team or unknown specialist team would return results in routine care)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"2\" valign=\"top\" style=\"width: 70px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eStaff perceptions of parent engagement and communication of results\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eParent engagement\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We can tell you what the result of this test is for your baby, so I think the fact that there\u0026rsquo;s a direct benefit to their child is making people more interested in participating.\u0026rdquo; (I.14)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (perceived benefit influences engagement beyond research context)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 106px;\"\u003e\n \u003cp\u003eCommunication with parents\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 305px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I don\u0026apos;t want to speak for them - but I think they are grateful to have a result and to understand their child better. And to allow things to be put into place that they wouldn\u0026apos;t otherwise have had. I think it has come with a lot of anxiety and worry and concern about how they, what they do now, but I would say on balance they feel happier having the knowledge\u0026rdquo; (GIRR_003)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cem\u003e✓\u003c/em\u003e\u003cem\u003e Likely relevant (communication needs and emotional responses will persist in routine care)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\n\u003cp\u003e\u003cem\u003eStaffing needs\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eStaff training: \u003c/strong\u003eInterviewees from local recruiting sites expressed a need for additional training sessions provided by Genomics England, highlighting the difficulties they had trying to train new staff at the same time as conducting the study. This challenge was also reported by a staff member during a site observation. Additionally, it was noted during interviews that taking cord blood samples was more difficult when new staff had not received training, as they were more likely to miss samples. During observations, it was noted that if a cord blood sample was missed following the birth, clinical members of the recruiting team could collect the sample later on, however if the parent and baby had already been discharged, then this required a member of the team to travel out into the community to collect the sample. Regional staff also communicated a need for additional training sessions. Two participants suggested more formal and, potentially, localised training was needed for results coordinators as roles and responsibilities differ between regions.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eRecruitment and retention of staff: \u003c/strong\u003eDifficulties with staff recruitment and retention were mentioned by interviewees as a barrier to implementing the study. These recruitment difficulties were attributed to staff illness, and instances where weeks were spent training new staff members who were only available to their team for a short period of time. A lack of sustainable funding was also mentioned as a contributing factor to the difficulties with recruiting staff. Having research staff employed at the sites that were primarily focused on this study was cited as a key facilitator in the recruitment process and key to reaching implementation goals. Those who did not feel that they had sufficient staff reported that they struggled to recruit participants. This was also reported by staff during the observations. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eAdministrative support: \u003c/strong\u003eInterviewees and staff taking part in the observations suggested that increased administrative support would be beneficial to the implementation of the study, as it would allow research staff at the sites to focus their efforts on engaging and consenting participants. Administrative support at a regional level was also thought to be important. For example, one participant felt that an administrator at a regional level would be best placed to monitor parents enrolled in the study to track when they gave birth, whether their cord blood sample was taken and share reminders to the local teams (if needed) to prevent the backup heel prick test being missed. \u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eEngagement with the wider clinical workforce\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEngaging clinical staff: \u003c/strong\u003eInterviewees and observation participants reported that having a clinical team that is engaged and enthusiastic about the study, especially clinical staff who have an existing rapport with parents, was a key facilitator in the study implementation. Interviewees also suggested that clinical staff concerns (i.e. staff capacity, ethical concerns regarding data use) were a barrier to engagement and in order to overcome these barriers, they included these staff in planning discussions.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eSupport from senior stakeholders: \u003c/strong\u003eInterviews and observations identified that support from those in senior roles (such as the budget holder, ward matron, and director of midwifery) was a key enabler to study implementation and was a barrier when it was missing. During observations, staff at some of the sites commented that they faced challenges putting up recruitment materials in certain areas of the hospital, as senior stakeholders would not sign this off. At one site, it was reported that because of another study occurring at the same time, they were unable to approach parents who had already consented to that study. \u003c/p\u003e\n\n\u003cp\u003e\u003cem\u003eInstitutional support for implementation\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eGenomics England involvement: \u003c/strong\u003eSite implementers, on the whole, were happy with the level of support and communication from Genomics England, indicating that Genomics England had helped with problems and queries, and were receptive to feedback provided by the sites. However, some messaging was perceived less positively, with one participant sharing they felt like they were working at a very high level and would struggle to meet the workload expectation of Genomics England. During observations, two of the sites discussed the target recruitment number and commented that they thought it would be challenging to meet the proposed target, because they were struggling to fit in all the administrative related tasks alongside the recruitment activities. Additionally, some interviewees faced challenges with communicating with Genomics England, noting that the helpdesk did not respond quickly enough to urgent queries.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eRegional involvement: \u003c/strong\u003eInterviewees at the local sites had mixed responses on their communication with regional leads. Some felt that there was good communication and support between these teams, while other local sites were unclear on the role of the regional team and had limited contact with them. \u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003e \u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eResources\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResources provided by Genomics England: \u003c/strong\u003eInterviewees were mostly happy with the parent recruitment materials provided, with one saying they wished they had more merchandise to hand out. This was also reported by one of the sites during the observations. However, it was also mentioned that some of the internal documents provided around conditions being tested for had errors in them and multiple versions were provided, which caused confusion amongst recruiting staff. It was suggested that providing tablets instead of laptops would be beneficial as they are more portable and easier to sanitise. \u003c/p\u003e\n\u003cp\u003eDuring the observations, it was noted that the team at one site had received updated participant facing materials from Genomics England, which meant that the existing materials around the hospital needed to be replaced. It was noted that administrative-related activities such as this need to be factored into the teams\u0026rsquo; schedules. \u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eStudy portals: \u003c/strong\u003eSome participants also reported having issues accessing information within the study portal. They mentioned that a point of contact or meetings with Genomics England were needed in addition to or instead of logging queries in the study portal. During the observations, implementers across all sites were working with the same study portal and then different site-specific interfaces. Staff being observed reported that this took a lot of time and that there was room for error when manually entering and transferring different participant codes and information between the portal and their site-specific database. They reported this potential for error was likely to increase with the increase in samples they worked with. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eSupporting equitable recruitment\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eChallenges of equitable recruitment: \u003c/strong\u003eBoth local site and regional interviewees raised concerns that to reach recruitment targets, approaches leaned towards less time-consuming methods that do not facilitate diverse recruitment, a point also reported during the observations at sites. The potential for digital disparity was also reported during the observations, as most study materials are online, which people with poor digital literacy could struggle with.\u003cem\u003e \u003c/em\u003eMore resources for, and investment in, the recruitment of staff was suggested as an approach that would allow for an increased focus on equitable recruitment. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eLanguage barriers: \u003c/strong\u003eThe ability to bridge language barriers and cultural differences was mentioned as a key factor in the facilitation of equitable recruitment. Interview participants found that the materials provided in different languages were helpful, but also mentioned that the languages available did not reflect their local population and suggested that having an increased range of languages would be beneficial. This point was reiterated during the observations at sites.\u003c/p\u003e\n\n\u003cp\u003eRecruiters at one site wanted to reach out to potential participants in the community, but due to staffing numbers this was not possible. During the observations, one site shared examples of how they had tried to reach parents in the community (for example, by attending a Sikh temple, a Pakistani community centre, a shopping centre, and parent education classes). Another site shared that they had plans to go to health centres in postcodes in their region with high levels of socio-economic deprivation to share information about the study. A third site also shared that they hoped to go out into the community soon to recruit participants.\u003c/p\u003e\n\u003cp\u003eInterviewees also indicated that they needed support in additional languages, to be able to best reach all potential participants. The ability to spend time talking with parents\u0026rsquo; one-on-one was stated to be especially important for those with minimal English or poor literacy skills. This was also reported during the observations.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eReturning results to parents\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eSpecialist pathway mapping process: \u003c/strong\u003eSpecialist clinicians involved in the care of families with conditions in the Generation Study were mapped so they could be called on to return the results to parents as needed. Return of results coordinators reported mixed experiences of this specialist mapping process. Some interviewees indicated that the clinicians they contacted were happy to help, while others reported encountering resistance. Some participants indicated that Genomics England had been responsive about the specialist mapping process, while others expressed the desire for increased support. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003eReturn of results process and training: \u003c/strong\u003eStaff reported that the process and support from Regional Results Coordinators for returning results worked well. Several participants reported that they felt they did not require additional training as returning results was already part of their day-to-day activities. Clinicians were aware of the information sheets and guidance on contacting parents developed as part of the Generation Study and described information sessions delivered through the GMSA. Several participants expressed that they had initially been concerned about the impact the Generation Study would have on their workload but felt the number of results to be returned was \u0026lsquo;manageable\u0026rsquo;.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eExperiences of returning results\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFor participants returning a result that was already on the bloodspot programme the process of returning the Generation Study result was seen as straightforward. Returning results \u0026ldquo;out of the blue\u0026rdquo; was reported by some to be challenging as they had not had any previous contact with the family. For example, one clinician described needing preparation time to ensure that supporting these parents was prioritised, another described being flexible to allow both parents to join the initial call.\u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eStaff perceptions of parents\u0026rsquo; engagement and communication of results\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eParent engagement: \u003c/strong\u003eStaff outlined various reasons for parental participation in the program, along with specific examples shared by the parents themselves (Table 2).Key motivators were a desire to take advantage of any additional tests on offer, feeling that taking part could benefit their child directly through accessing treatment early, and/or for reassurance that their baby did not have one of the conditions being looked for. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eTable 2\u003c/em\u003e\u003c/strong\u003e\u003cstrong\u003e. \u003c/strong\u003eStaff perspectives on the reasons parents consented to take part in the gNBS programme \u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eReasons for consenting\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eTo access treatment for their child as early as possible\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;From the women who do give a reason, they kinda see it as why wouldn\u0026rsquo;t I\u0026hellip; if it means that if anything is wrong, my baby can receive early treatment.\u0026quot; (I.13)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eTo take advantage of any additional tests available\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;People just think it\u0026rsquo;s a really good thing to have more testing, generally.\u0026quot; (I.4)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eTo contribute to research and therefore to benefit people in the future\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;they actually love the idea and they hope it will be a benefit for the future as well.\u0026rdquo; (I.20)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eBecause a family member has been affected by a condition\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Certainly people who\u0026rsquo;ve experienced things in their families already, actually want to know. They want to know a lot of this information and are very happy to take part.\u0026quot; (I.9)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eFor reassurance when a negative result is received\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I guess it\u0026rsquo;s reassurance if they do get a negative screen.\u0026rdquo; (I.15)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eBecause they work in genomics or research\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;if they\u0026apos;re researchers themselves\u0026rdquo; (I.19)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eThere is a direct benefit for their baby\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;we can tell you what the result of this test is for your baby, so I think the fact that there\u0026rsquo;s a direct benefit to their child is making people more interested in participating.\u0026quot; (I.14)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eBecause it is non-invasive\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;the fact that it\u0026apos;s non-invasive is a really big thing\u0026quot; (I.4)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eBecause of family influence\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Sometimes the ladies\u0026rsquo; partners are more interested to know those conditions.\u0026rdquo; (I.12)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003eParticipants also identified several reasons for parental hesitation or refusal to participate (Table 3).The most frequently cited reasons were related to how long the data would be stored, what the genomic data would be used for and how taking part might affect their insurance. Other reasons included not wanting to participate in research, mistrust in research generally, concerns around the anonymisation of data and/or religious beliefs. Interviewees noted that mistrust in research was not an issue unique to this study. Historical and cultural reasons were also mentioned as potentially contributing to parents\u0026rsquo; reluctance to enrol, which may also impact the diversity of the participants.\u003c/p\u003e\n\n\u003cp\u003eStaff expressed that many parents do not give a reason as to why they don\u0026rsquo;t want to take part in the study. Some of the findings relating to reasons parents decline to take part in the programme were supported by the observations. Across the sites where observations took place, the evaluation team only observed three parents decline. This was at the point when one of the staff approached parents to share study information with them. Two of the declines were due to mothers not having enough time to digest the study information as they were having contractions when approached, and the third parent did not share their reason for not wanting to consent to the study after reading the participant information sheet. \u003c/p\u003e\n\n\u003cp\u003e\u003cstrong\u003e\u003cem\u003eTable 3\u003c/em\u003e\u003c/strong\u003e\u003cstrong\u003e.\u003c/strong\u003eStaff perspectives on the reasons parents have concerns or decline to take part in the programme\u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd colspan=\"2\" valign=\"top\" style=\"width: 601px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eReasons for declining and concerns about the programme\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003cem\u003eResearch participation\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eNot wanting to participate in research\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;most of the people\u0026hellip;here [are ethnic minorities]. And they are not much keen to participate in any type of research\u0026quot; (I.12)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eWorries about genetics \u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026apos;\u0026quot;A lot of people when they hear \u0026lsquo;genetics\u0026rsquo; worry because it\u0026rsquo;s all stuff they don\u0026rsquo;t really understand.\u0026quot; (I.18)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003ePerceived study burden\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;some women, they have a lot of anxiety during pregnancy, so they don\u0026rsquo;t want to have this further, they call it burden\u0026quot; (I.20)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003cem\u003eData use and handling\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around data being sold\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026rdquo;We have people asking \u0026lsquo;oh, will that information get sold?\u0026rsquo;\u0026rsquo;\u0026rdquo; (I.17)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around length of data storage \u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;the things which patients are concerned [about] are that the study is for sixteen years\u0026rdquo; (I.3)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns about how leftover blood sample will be used\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;what exactly [is] the rest of the blood used for.\u0026rdquo; (I.3)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around data anonymisation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;The biggest query has been the data, the anonymisation of the data (I.1)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around data protection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;most of the questions I\u0026apos;ve had have been surrounding data protection\u0026quot; (I.19)\u003c/em\u003e\u003c/p\u003e\n \n \u003cp\u003e\u003cem\u003e\u0026ldquo;there have been a few women, men and women, parents that have said \u0026lsquo;who are you going to tell about my baby?\u0026rsquo;.\u0026quot; (I.1)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003cem\u003eReligion\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eDue to religious beliefs or the influence of religious leaders\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;[a parent shared that an] Imam [told them] that they can\u0026apos;t join the study or they shouldn\u0026rsquo;t join the study because God has blessed them with this child. \u0026quot; (I.27)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003cem\u003eImplications of participating\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around how it will impact insurance\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;there have been people, they\u0026rsquo;re like \u0026lsquo;Will it affect my insurance in the future?\u0026rsquo;\u0026quot; (I.11)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConcerns around length of time waiting for results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I think people\u0026rsquo;s main concerns in the study is data and the length of time that you get your results back.\u0026quot; (I.11)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eNot wanting to know results\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Yeah, decline for the data reasons and about the results. They don\u0026rsquo;t want to see the results.\u0026quot; (I.12)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eDue to the requirement for an additional heel prick test if cord blood is missed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;And we\u0026rsquo;ve had four withdrawals because the cord blood was missed and they didn\u0026rsquo;t want the heel prick done\u0026rdquo; (I.4)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eDisliked consenting on behalf of their child\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;consenting on behalf of a child for such a long time, that\u0026rsquo;s what people don\u0026rsquo;t like. \u0026quot; (I.16)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u003cem\u003eFamily influence\u003c/em\u003e\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003eConflicting views between parents\u003c/p\u003e\n \n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 300px;\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;they would like to know but their partners just don\u0026rsquo;t\u0026quot; (I.24)\u003c/em\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\n\u003cp\u003e\u003cstrong\u003eCommunication of results to parents: \u003c/strong\u003eParticipants returning a variety of results, including condition confirmed results, false positive results, results for conditions that are included in the existing newborn screening bloodspot programme, and results for conditions that are only included in the Generation Study. Overall, experiences of parents described by clinicians returning results were varied and depended on individual circumstances and the results themselves. For example, some families where the child was symptomatic were relieved to have a diagnosis.\u003c/p\u003e\n\n\u003cp\u003eIn contrast, for a family whose result was out of the blue, a period of adjustment was described, before parents reached a point of feeling the value of having the result. One clinician described needing preparation time to ensure that supporting these parents was prioritised, another described being flexible to allow both parents to join the initial call. Another interviewee described a family where the child was asymptomatic and highlighted that the \u0026ldquo;burden\u0026rdquo; for the family would come when the child started to show clinical signs.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eOur study explored staff experiences of implementing the Generation Study in England during the early stages of implementation. Our interviews and observations highlighted key barriers and enablers in implementation. Gaps in staff training, high turnover, difficulties recruiting new members of staff and issues accessing study portals were identified as barriers in implementation. Issues related to the upskilling of staff have been mentioned in evaluations of programmes introducing genomic tests into clinical practice and authors have recommended training approaches focused on consistency, multidisciplinary teamworking and case-based learning [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eOur findings can be interpreted through key implementation science frameworks. Using the CFIR, barriers such as staffing constraints, administrative burden and IT inefficiencies reflect challenges within the inner setting, while recruitment targets and national programme priorities illustrate outer setting pressures that at times conflicted with the need for equitable engagement. Individual-level variation in clinicians\u0026rsquo; confidence and beliefs about genomics further influenced implementation. From a NPT perspective, staff demonstrated strong engagement driven by perceived patient benefit, but coherence was limited by uncertainty around roles and processes, and collective action was constrained by resource and infrastructure limitations, requiring local workarounds. Across both frameworks, a key cross-cutting tension emerged between efficiency-driven implementation and the delivery of equitable, inclusive practices, highlighting a critical consideration for the scale-up of gNBS.\u003c/p\u003e \u003cp\u003e In our study, staff sought to maintain close and open communication with parents and this was facilitated by the ability to bridge language barriers and having time to discuss information with parents on a one-to-one basis. Recruiting participants who were not fluent in English was an ongoing challenge for staff, so the ability to overcome this barrier through translated study materials and use of interpreters was highlighted as an important achievement. Clinician-patient communication has been identified as a central component of the implementation of genomic screening programmes, with some studies suggesting the need for genetic counselling services and decision aids to help translate complex information to patients, taking into consideration the need for different levels of support [\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e, \u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. Recent studies of gNBS programmes identified equitable access for diverse populations as one of the key factors that need to be taken into consideration in the integration of these types of programmes in routine care [\u003cspan additionalcitationids=\"CR25\" citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]. Our study sheds further light on this issue as staff reported prioritizing meeting targets in terms of recruitment numbers rather than maintaining diversity within participant groups (which required addressing language barriers and mistrust).\u003c/p\u003e \u003cp\u003eIn our study, staff experiences of implementation were mainly positive. Engaged clinical staff, support from senior stakeholders, and close contact with Genomics England were identified as the main factors enabling implementation. Staff highlighted that having more administrative support would help with recruitment. Administrative support for recruitment should be considered in light of a healthcare system where staff are under constant pressure. Should the gNBS be integrated into routine clinical practice in England in the future, staffing shortages as well as lack of qualified clinical personnel could create tangible barriers to its adoption. In light of similar staffing issues and limitations in the ability of the clinical genomic workforce to deal with patient demand, programmes in other countries, such as Australia, have started to explore the use of digital platforms for patient education, decision aid, consent and the return of results in gNBS [\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]. It will be important to explore whether similar platforms could be implemented in England in the future.\u003c/p\u003e \u003cp\u003eStaff perceptions of the reasons why parents accepted the invitation to take part in the study included taking advantage of the opportunity to have access to additional tests as well as reassurance regarding their babies\u0026rsquo; health. This confirms previous studies that have identified peace of mind as a key driver behind parents\u0026rsquo; decision to participate in gNBS [\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]. In our study, staff indicated that parents declined participation in gNBS due to concerns about data use and storage, feelings of mistrust related to research, impact of the results on their insurance and unwillingness to know the results of the test. These reasons have been reported in previous studies on gNBS programme implementation [\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e] as well as wider research on reasons why patients decline participation in research and clinical trials [\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eA key consideration in interpreting these findings is the distinction between challenges associated with implementing the Generation Study as a research programme and those relevant to the future delivery of gNBS as a routine clinical service. While some barriers\u0026mdash;particularly those related to recruitment processes and target-driven delivery\u0026mdash;reflect the requirements of a research context, many of the challenges identified, including workforce capacity, data infrastructure, workflow integration, and equitable access, are likely to remain central to large-scale implementation. The inclusion of an implementation-focused interpretation within Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e is intended to support this distinction and to highlight which findings may be transferable to future service design.\u003c/p\u003e \u003cp\u003eThe findings of this study should be considered in relation to its limitations. Even though we used a purposive sampling approach with a sampling framework, we might have missed relevant points of view. The findings included in this manuscript refer to an early implementation stage of the gNBS programme, our evaluation continues to document subsequent stages in implementation where the experiences of staff delivering the programme might change as the study embeds. The findings included in this manuscript are from interviews with staff. Our evaluation is currently documenting the views of parents and their experiences will be reported in a separate paper.\u003c/p\u003e"},{"header":"Conclusions","content":"\u003cp\u003eThis study is the first process evaluation of the implementation of a gNBS programme in England. In its early stages, we captured positive experiences from staff delivering the programme as well as the factors that led to its successful implementation at sites amongst the first to recruit to the Generation Study. Over the coming year, we will continue documenting implementation processes across the same sites with the purpose of identifying changes in staff experiences and the factors acting as barriers and enablers in implementation. We will also capture parents\u0026rsquo; experiences of consenting to take part in the study as well as reasons for decline. We hope that these future analyses will shed light on the particular challenges of consenting this patient population and parents\u0026rsquo; experiences of receiving results.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe are very grateful to the participants who took part in this study.\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData availability statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data generated for this study can be found within the published article and its supplementary files. Additional data cannot be shared to protect the identity of study participants. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll authors contributed to the study design and the writing of the manuscript. SC, KG, EB, GB and AM carried out data collection and analysis for the study and were supervised by CVP, MH, FB and CL. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis report presents independent research commissioned by Genomics England.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eCVP, SC, KG, EB and GB were partially supported by the NIHR Central London Patient Safety Research Collaboration (CL PSRC), reference number NIHR204297.\u0026nbsp;All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The NIHR Great Ormond Street Hospital (GOSH) Biomedical Research Centre (BRC) also part funds Melissa Hill.\u0026nbsp;The views expressed are those of the author(s) and not necessarily those of the NIHR Genomics England, the NHS or the Department of Health and Social Care.\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they do not have any competing interests in relation to the work described in this manuscript.\u003cstrong\u003e\u003cbr clear=\"all\"\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e"},{"header":"References","content":"\u003cp\u003eAlarc\u0026oacute;n Garavito, G. A., Moniz, T., Deom, N., Redin, F., Pichini, A., \u0026amp; Vindrola-Padros, C. (2023). The implementation of large-scale genomic screening or diagnostic programmes: a rapid evidence review. 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Genomic sequencing for newborn screening: Results of the nc nexus project. Am J Hum Genet 2020;107(4):596-611.\u003c/p\u003e\n\n\u003cp\u003eSimpson S, Seller A, Bishop M Using the findings of a national survey to\u003c/p\u003e\n\u003cp\u003einform the work of england\u0026rsquo;s genomics education programme. Front Genet\u003c/p\u003e\n\u003cp\u003e[Internet]. 2019;10. Available from: https://www.frontiersin.org/article/10.3389/\u003c/p\u003e\n\u003cp\u003efgene.2019.01265/full\u003c/p\u003e\n\n\u003cp\u003eSmits, S. G., Onstwedder, S. M., Rigter, T., Rodenburg, W., \u0026amp; Henneman, L. (2026). Public and parent perspectives on genomic sequencing in newborn screening: a scoping review. European Journal of Human Genetics, 1-12.\u003c/p\u003e\n\n\u003cp\u003eSnir M, Nazareth S, Simmons E, Hayward L, Ashcraft K, Bristow SL, et al. Democratizing\u003c/p\u003e\n\u003cp\u003egenomics: Leveraging software to make genetics an integral part of\u003c/p\u003e\n\u003cp\u003eroutine care. Am J Med Genet Part C Semin Med Genet [Internet].\u003c/p\u003e\n\u003cp\u003e2021;187:14\u0026ndash;27. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31866\u003c/p\u003e\n\n\u003cp\u003eSpiekerkoetter, U., Bick, D., Scott, R., Hopkins, H., Krones, T., Gross, E. S., \u0026amp; Bonham, J. R. (2023). Genomic newborn screening: are we entering a new era of screening?. Journal of inherited metabolic disease, 46(5), 778-795.\u003c/p\u003e\n\n\u003cp\u003eStark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet 2023;10.1038/s41576-023-00621-w.\u003c/p\u003e\n\n\u003cp\u003eTutty, E., Kanga-Parabia, A., Kugenthiran, N., Caruana, J., Downie, L., Gaff, C., ... \u0026amp; Archibald, A. D. (2026). Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study. European Journal of Human Genetics, 1-8.\u003c/p\u003e\n\n\u003cp\u003eVindrola-Padros, C., Chisnall, G., Cooper, S., Dowrick, A., Djellouli, N., Symmons, S. M., ... \u0026amp; Johnson, G. A. (2020). Carrying out rapid qualitative research during a pandemic: emerging lessons from COVID-19. Qualitative health research, 30(14), 2192-2204.\u003c/p\u003e\n\n\u003cp\u003eVindrola-Padros, C., Gilchrist, K., Braverman, S., Omar, R., Merivale, E., Hussenbux, A., ... \u0026amp; Yu, R. (2025). A mixed-methods study on the recruitment of patients from ethnic minority groups to clinical trials in a central London teaching hospital. Contemporary Clinical Trials Communications, 45, 101475.\u003c/p\u003e\n\n\u003cp\u003eVu, M. et al. The Costs of Genomic Newborn Screening in England: A Micro-Costing Analysis from the Generation Study. Genetics in Medicine, 2026, in press. \u003c/p\u003e\n\n\u003cp\u003eZiegler, A., \u0026amp; Chung, W. K. (2025). Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatric Research, 97(4), 1315-1319.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"genomics, newborn screening, implementation, English NHS","lastPublishedDoi":"10.21203/rs.3.rs-9456097/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-9456097/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eThe role of genomics in healthcare is expanding rapidly and there is a growing interest in the possibility of using genomic sequencing to expand current newborn screening programmes. In England, Genomics England have established the Generation Study in partnership with the National Health Service (NHS) to deliver gNBS for 100,000 births from October 2024. We are conducting an independent process and impact evaluation of the Generation Study and, in this manuscript, we present the factors acting as barriers and enablers in implementation across NHS settings from a staff perspective and during early stages of implementation. The study was designed as a process evaluation based on interviews (n\u0026thinsp;=\u0026thinsp;38 staff delivering the programme and n\u0026thinsp;=\u0026thinsp;11 staff returning results) and observations (across six NHS sites). Staff experiences of implementation were mainly positive. Engaged clinical staff, support from senior stakeholders, and close contact with Genomics England were identified as the main factors enabling implementation. Gaps in staff training, high turnover, difficulties recruiting new members of staff and issues accessing study portals were identified as barriers in implementation. Recruiting participants who were not fluent in English was an ongoing challenge for staff, so the ability to overcome this barrier through translated study materials and use of interpreters was highlighted as an important achievement. Over the coming year, we will continue documenting implementation processes with the purpose of identifying changes in staff experiences and the factors acting as barriers and enablers in implementation.\u003c/p\u003e","manuscriptTitle":"The implementation of a national genomic newborn screening programme in the English NHS: Early lessons from the Generation Study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-05-04 19:31:05","doi":"10.21203/rs.3.rs-9456097/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"editorInvitedReview","content":"This content is not available.","date":"2026-05-01T07:24:20+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2026-04-24T01:36:49+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2026-04-23T21:00:57+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-04-22T10:02:15+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2026-04-22T09:06:21+00:00","index":"","fulltext":""},{"type":"checksFailed","content":"","date":"2026-04-21T14:44:52+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-04-18T11:21:16+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"16bba868-7802-42e4-aec0-c11da73d503c","owner":[],"postedDate":"May 4th, 2026","published":true,"recentEditorialEvents":[{"type":"editorInvitedReview","content":"This content is not available.","date":"2026-05-01T07:24:20+00:00","index":1,"fulltext":"This content is not available."}],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[{"id":66906250,"name":"Health sciences/Health care/Health services/Genetic services"},{"id":66906251,"name":"Health sciences/Health care/Health services/Genetic services/Genetic testing"}],"tags":[],"updatedAt":"2026-05-04T19:31:06+00:00","versionOfRecord":[],"versionCreatedAt":"2026-05-04 19:31:05","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-9456097","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-9456097","identity":"rs-9456097","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}