The role of NHS genomic associates, assistants, and practitioners in England: Demographics, career plans and challenges faced

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Throughout the NHS in England, genetic assistant, associate and practitioner roles (GenPs) have been created to tackle some of the issues genetic services are facing. However, to date there is limited information about these roles and the individuals that take these up. The aim of this workforce evaluation was to explore the demographics, career plans and roles of GenPs as well as the benefits and challenges for these individuals to improve service delivery and care for patients. This is a mixed methods study. Firstly, an online survey was sent to current and previous GenPs to which we received 56 eligible responses. Those who completed the survey were invited to take part in focus groups to explore the benefits and challenges of these roles further. 17 GenPs expressed interest and 11 took part. These were recorded, transcribed verbatim and thematically analysed to extract themes. Our results show there is variability between tasks performed by individuals in these roles even with the same job titles. This highlights a need for a defined scope to ensure appropriate boundaries of the role. This data also highlights the need for further training, support and career progression pathways for these individuals. Health sciences/Health care/Health policy Health sciences/Health care/Health services/Genetic services/Genetic counselling Health sciences/Health care/Health services/Genetic services/Genetic testing Introduction Whole genome sequencing (WGS) is becoming the preferred method for diagnosis of suspected genetic conditions, including in rare diseases and certain types of cancer 1 . In England, WGS is a diagnostic test in routine care, through the NHS Genomic Medicine Service (GMS) 2 . The GMS is a national service responsible for all genetic and genomic tests, facilitated through the network of seven genomic laboratory hubs, with each hub delivering services to a particular region 3 . The GMS centralises and mainstreams WGS testing, allowing both genetic and non-genetic clinicians to order testing with standardised criteria from the National Genomic Test Directory 4 . The increasing number of patients accessing genomic testing is, and continues to be a challenge, particularly with current pressures on clinician time and workload. With clinical teams outside of a clinical genetics service (CGS) now able to request genomic testing, healthcare professionals (HCPs) need to be adequately trained, and pathways developed and reviewed to ensure consent for genomic testing is taken by an appropriate individual 5 . With a move towards genomic sequencing rather than single gene testing, patients need to be informed about the potential complex outcomes, such as variants of uncertain significance and incidental findings 6 . In the GMS, the consent process follows a ‘patient choice’ model, covering consent for diagnostic WGS testing as well as the patient’s decision to include their data in the National Genomic Research Library, a database that enables approved researchers to access de-identified WGS sequences 7 . Consent for both is documented on a standardised ‘Record of Discussion’ form 8 . The preferred analytical pathway of WGS requires samples and consent from the patient and their parents, to perform trio WGS analysis 9 . While a family trio can be managed on one referral form, three record of discussion forms and three genetic test request forms for samples are required. This massively increases the workload of each clinician requesting WGS. Despite mainstream clinicians being able to request WGS through the GMS, complex cases still require a referral to CGS for specialist input from clinical geneticists and/or genetic counsellors (GCs). This adds to the demands faced by CGS 10 . Training of other HCPs to assist with the consent process was suggested as way of reducing these demands, when the GMS initially commenced in 2019 11 . In a previous study 5 , employing genomic associates to support the consenting process was identified as a practical strategy to free up clinician’s time, allowing them to focus on clinical appointments. Genomic associates represent a ‘novel role’, developed specifically to assist with the delivery of mainstream WGS within the GMS 12 . Genomic associates, also known as genetic or genomic practitioners or assistants (GenPs) were first recognised as a support role of a GC by the Association of Genetic Nurses and Counsellors in 2021 13 . They then conducted a workforce survey in 2023, which identified 37 GenPs across the UK 14 . This survey highlighted a discrepancy in the title of the role between trusts and found that most GenPs are involved in conversations about consent, pre and post clinic work, and liaising with the laboratory, mitigating some of the pressure on clinicians who are requesting genetic testing. Globally genetic services are facing issues of time and workload pressures 15 . In North America, a role commonly known as a ‘Genetic Counselling Assistant’ (GCA) has been introduced to take on administrative tasks and assist GCs to free up their time for more complex cases 16 . Numbers of these positions have grown in the last few years 17 . While the role of GCAs in North America and GenPs in the UK differ, potentially due to differences in the structure of healthcare models, there are similarities between education levels, time in role and career aspirations. In surveys of both GenPs and GCAs many participants are interested in a future career as a GC, 1714 . Although this suggests most GenPs would be interested in a career in genetic counselling, it is not known whether this is something they are actively pursuing, are already in training programmes or whether their GenP role helps towards this goal. In the UK, there are two main entry routes into genetic counselling, either through the NHS Scientist Training Programme (STP) or through completing a Master’s programme 18 . Whilst there is expectedly a growing number of GenPs across England, there is a lack of published data and limited information known about the demographics of this group, their training experiences, and future career plans. There is also limited information on the tasks they perform and the benefits and challenges these individuals face. This study aims to understand the variation in these roles and the individuals that take them up. This will be essential to aid workforce planning and set out how this group can assist with the current and future demands on genetics services within the GMS. Materials and Methods Study design This is a mixed methods study comprising of two parts; an online survey followed by semi structured focus groups with survey participants. This approach was taken to combine quantitative data from the survey with qualitative data that further explored the issues raised in the survey 19 Study materials Survey The survey was developed by BL, SL and AP. Prior to dissemination, it was reviewed by social scientists with experience of developing surveys and piloted to a group of genetic counselling trainees for feedback. The survey was anonymous to reduce respondent bias and asked for demographic details to collect data about job role, education levels, training and future plans. Open ended and Likert scale questions were used to gather information around challenges and benefits of these roles. The survey was created using the SmartSurvey software and a link was sent to the GenPAN Network (Appendix 1) mailing list. The link was also disseminated by British Society of Genomic Medicine to target any GenPs that may not be members of the GenPAN Network. The final question on the survey asked participants to email the GenPAN Network inbox if they were interested in taking part in the focus groups to ensure the survey remained anonymous. Participants and eligibility criteria Participants were eligible if they were over 18, employed by an NHS trust in England, currently or previously employed in a GenP role and able to understand written and spoken English. Responses that did not meet these criteria were excluded. Focus groups Focus groups were arranged following expressions of interest from those who had completed the survey. Focus groups were semi-structured and topics were prepared in advance guided by survey results, but participants were able to introduce new topics in conversation. A guide for the focus groups was created for use in the group (Supplementary Materials). Thematic analysis was used to identify common themes amongst participants’ experiences to allow further understanding of the benefits and challenges of the GenP role. Three focus groups were conducted with 3–5 participants in each group with an interviewer (SL), a note taker (AP) and a moderator (BL). Approvals The study followed the principles of the Declaration of Helsinki. Ethical approval by the NHS Research Ethics Committee review for England was deemed not necessary as the study was considered a service evaluation with participants who were NHS staff members. Data collection Survey responses were collected between April and May 2024. Focus groups took place in May and June 2024. Focus groups were recorded and transcribed using Microsoft Teams. Transcriptions were checked for errors to ensure verbatim transcription by the authors. The survey was hosted through SmartSurvey. Data was downloaded and stored on a password protected drive which only the authors have access to. Data analysis SmartSurvey generated percentage responses for each answer to each question. Survey data was downloaded as a Microsoft Excel file which was then used to review the data. The data was used to prepare a guide for the focus groups to direct the topics of conversation. No further analysis was completed on the data. Auto-generated transcripts from the focus groups were amended for typographical errors by SL and AP before being analysed using reflexive thematic analysis. The six phases of thematic set out by Braun and Clarke were followed 20 and further guidance from the Reflexive Thematic Analysis Reporting Guidelines was used 21 . Transcripts were read and reread to allow immersion in the data. BL initially coded the transcripts identifying general themes. BL, SL and AP then discussed these themes and performed further fine coding of the themes to refine them. BL and SL used NVivo software to assist with this. Reflexivity All researchers were female, BL had previous experience of qualitative interviewing methods, and none had any prior relationships with the participants other than communication through GenPAN Network events. At the time of data collection, BL and AP were employed as GenPs and SL was a trainee GC with previous employment in a GenP role. BL was enrolled in a Genetic and Genomic Counselling Masters course. As note taker, AP wrote reflexive statements throughout data collection and reflected on the initial responses to discussions in focus groups, pulling out potential themes for discussion during and after each focus group before transcription and analysis. When discussing themes, AP revisited these statements and considered these during the analysis process. The authors are consciously aware of the bias their backgrounds of working within a GenP role and having interacted with the participants in previous GenPAN Network communications may bring to this analysis and have reflected upon this 22 Results Survey findings There were 59 responses to the survey. Three responses were removed as they did not meet the eligibility criteria. 56 responses were used. 48 respondents were currently employed as GenPs and eight had previously worked as a GenP. Demographic information Demographic information from participants is shown in Table 1 . The majority were female (93%) and under 30 years of age (84%). GenPs from all seven Genomic Laboratory Hubs responded, with the largest number from Central and South. Table 1 Demographic information from participants currently or previously employed as GenPs Demographics GenPs n (%) Gender Female 52 (93) Other 4 (7) Age at beginning of role 18–25 29 (52) 26–30 18 (32) 31+ 9 (16) Current age 18–25 18 (32) 26–30 29 (52) 31+ 8 (14) Genomic Laboratory Hub Central and South 17 (30) East 6 (11) North East and Yorkshire 5 (9) North Thames 8 (14) North West 7 (13) South East 8 (14) South West 3 (5) Employment information A summary of employment information is given in Table 2 . Most individuals reported ‘Genetic or Genomic Associate’ as their job title ( n = 33, 59%). The majority are employed at Band 5 ( n = 42, 75%), on fixed term contracts ( n = 36, 64%) work full time ( n = 48, 86%) and had been in their role for less than two years ( n = 49, 88%). Table 2 Employment information from participants currently or previously employed as GenPs. Employment information GenPs n (%) Title Genetic/Genomic Assistant 2 (4) Genetic/Genomic Associate 33 (59) Genetic/Genomic Practitioner 19 (34) Other a 2 (4) Agenda for Change Band b Band 3 2 (4) Band 4 9 (16) Band 5 42 (75) Band 6 3 (5) Contract type Fixed term 36 (64) Permanent 18 (32) Other c 2 (4) Hours per week Full time (37.5 hours or more) 48 (86) 20–37.5 hours 7 (13) Less than 20 hours 1 (2) Primary work setting Within a clinical genetics service 45 (80) Within a mainstream service 10 (18) Other d 1 (2) Time in role Less than six months 11 (20) Six months to one year 18 (32) One to two years 20 (36) Two to four years 5 (9) Over four years 2 (4) a Other job titles that did not fit into categories of ‘Assistant’, ‘Associate’ or ‘Practitioner’. b Set pay scheme for nurses and most other staff other than doctors in the NHS. c Other contracts including bank work and secondments. d One participant worked across both mainstream and clinical genetics. The majority of GenPs were based within a CGS (n = 45, 80%). Most assisted CGS clinicians ( n = 42, 75%) but GenPs also assisted a wide range of specialities most commonly paediatrics ( n = 23, 41%), cancer ( n = 22, 39%) and neurology ( n = 20, 36%). Education and career plans All respondents had completed a Bachelor's degree with 43% having a Master’s degree or higher. The most common degree subjects were Biomedical Science, Genomic Medicine, Genetics, and Genetic Counselling. Around half ( n = 29, 52%) of participants had completed a training course before starting as a GenP including counselling skills courses and FutureLearn modules. 55% of participants felt they had adequate training for their role and the majority ( n = 38, 68%) do not participate in any formal clinical or counselling supervision. Of the 48 participants who were currently employed as a GenP, 65% are planning to become GCs, with 8 currently on a training programme and 3 having already completed a programme. A further 11 indicated that they are undecided on pursuing a genetic counselling career. Only four (8%) currently employed GenPs wish to continue in their current role. Other career plans included working in a different position in genomics ( n = 9, 19%), pursuing higher education or training ( n = 3, 6%) or working in a different position within ( n = 5, 10%) or outside ( n = 2, 4%) the NHS. Of the previously employed GenPs who participated ( n = 8), 6 are currently on the STP and 2 have previously completed a training programme. Role The tasks performed by GenPs varied. The majority undertake administrative tasks ( n = 47, 84%), chase patients for blood samples ( n = 47, 84%), complete records of discussion and/or consent forms ( n = 45, 80%), undertake data entry ( n = 38, 68%), complete patient demographic information on test order forms ( n = 37, 66%) and consent patients for WGS ( n = 36, 64%). Whilst there were no clear differences between Practitioner and Associate roles, Assistants ( n = 2, 4%) were not involved in consenting patients for testing or completing consent forms. When asked which tasks participants perform most frequently, there was again overlap between Practitioner and Associate roles. These are shown in Table 3 . Table 3 Top three tasks carried out by Practitioners and Associates Practitioner Associate Task GenPs n (%) Task GenPs n (%) Consenting patients for WGS 17 (89) Chasing blood samples from patients 16 (48) Completing Records of Discussion and/or consent forms 12 (63) Taking family history 14 (42) Chasing blood samples from patients 10 (53) Consenting patients for WGS 13 (39) Most participants ( n = 52, 93%) understood the scope of their role with few ( n = 8, 14%) being asked to frequently complete tasks beyond their capabilities. When asked which tasks are outside of the scope of their roles, contacting patients with negative ( n = 44, 79%), uncertain ( n = 49, 88%) or positive ( n = 49, 88%) results were most commonly identified. Focus Groups 17 GenPs contacted us following the survey with 11 taking part in three focus groups. Perceived value of working in a GenP role Participants discussed several benefits of the GenP role. Working alongside GCs and clinical geneticists was highlighted. Participants felt they had the opportunity to gain experience of the GC role and an insight into a CGS. Being able to experience different areas within a CGS, for example prenatal genetics, was also identified as a benefit and helped to build good working relationships with the wider department. “For me personally, it was working alongside genetic counsellors… being able to shadow their clinics sometimes and even shadow some consultant clinics and things and sort of be a part of that life” (P8) “I absolutely loved being part of an MDT. I think it was fantastic experience and it sort of gave me that awareness of how our department fits into the wider clinical team as well” (P6) Many participants commented on the development of their skills whilst working as a GenP including interacting with patients and enjoying the problem-solving aspect of the role. “I quite like the kind of problem-solving nature of some of the tasks we do kind of. I don’t know about other people, but we do kind of get kind of ‘if you could just find out a bit more of information about this patient’” (P10) “You get a lot of skills from it, in terms of conversations with patients and families” (P1) Having a positive impact on patient care was highlighted as a benefit and the sense of fulfilment that came with this. “You’ve actually aided those patients and accessing the service and navigating the service” (P9) “You feel like you have a big impact in someone’s care. That’s really rewarding” (P4) Lack of a defined scope Several participants raised that there was a lack of a defined scope of their individual roles and the focus group discussion identified variation between GenP tasks in different trusts “The role doesn’t seem to be standardised between each trust” (P11) This lack of standardisation can make setting boundaries difficult and can affect recognition of the role by other HCPs. “I don’t really know what my job is defined as, as to what I can say no to” (P2) “It is harder for people to know what a GA [genetic associate] does if actually what a GA does varies” (P7) Participants raised that a clear distinction between those in ‘genetic associate’ and ‘genetic practitioner’ role would help define the roles. “Just a really clear document essentially that explains the different banding and the differences between certain roles” (P1) Frustration at the lack of opportunities for career progression Another major theme raised by participants was frustration around career progression and future plans. “There aren’t any kind of clear ways to kind of progress and move up from this role” (P3) “It’s very much a junior sort of feeder role into genetic counselling and I don’t see much sort of progression beyond that or kind of alternative to that” (P4) There was a particular frustration towards accessing a GC career and the lack of clear pathways into the career. “It promised it was going to be a stepping stone into genomic counselling and it felt like it did the opposite” (P5) “I don’t think the pathways are streamlined and that say you’re in a situation where you can’t get onto the STP or the MSc [Masters course] is not feasible in terms of the cost and the finance side of it, then there’s not really any clear pathways for progressing onto the role of a genetic counsellor” (P1) Participants felt there were different opportunities working within a CGS and working in a mainstream setting. Those in mainstream settings felt isolated due to this. “The reason for doing this job was potentially to work with genetic counsellors…get some you know advice…hear about how they worked but then kind of starting and finding out that that is not going to be the case…is kind of a strange experience” (P3) “There’s a huge difference between those working in clinical genetics and then us working in mainstream which just feels a bit more isolated…there’s so much more we could get from the role if we were working within clinical genetics…it feels frustrating that you don’t necessarily get the same opportunities” (P1) Participants were keen for further development of skills and wanted some further training. “Maybe there could be further training that supports some types of clinical roles” (P4) Service challenges Participants also identified specific challenges that they faced in their individual services. Particular challenges mentioned were calling patients out of the blue, having to contact patients to check if a blood sample had been taken, chasing HCPs and issues with referrals to GenPs. “I found the most challenging part for me personally was cold calling patients” (P8) “The other thing I find quite challenging is not being a pest to patients when I’m chasing blood samples” (P10) Participants highlighted that a potential improvement to their current set up would be to offer official clinic slots to patients. Instability of the role Issues with high turnover rates were highlighted as a challenge, particularly from individuals leaving to pursue genetic counselling training through the STP. Participants also discussed the impact of a fixed term contract and how settling into the role could take a large proportion of that contract. “You almost start to manage getting your footing about the six-month mark into the role so the impact you have is only say six months or whatever’s left of the contract because that first chuck of time you’re just there trying to navigate your way around” (P9) “If someone leaves a role and someone new has to be brought in…it’s probably going to be after that person’s left and so you can’t learn from the person already in post and so it’s just quite a high turnover of someone having to relearn all the tasks every time” (P7) Participants also raised feelings of uncertainty around having a fixed term contract. “It is a lot of uncertainty of what to do when your twelve month or however long contract runs out” (P2) Discussion To our knowledge, this is the largest workforce evaluation of current and previous GenPs in NHS Trusts in England. Our findings show GenPs are present in all seven genomic laboratory hubs across England and that the majority are female, under 30 years old and have high levels of education. GenPs identified several benefits of their roles including exposure to a CGS and development of skills. However, there is variation between the tasks performed. Our findings suggest that most GenPs have an interest in pursuing a career in genetic counselling. This data shows that the scope of the GenP role varies; it is inconsistent both within and between centres. Whilst there are common tasks that the majority of GenPs perform such as general administrative tasks, chasing patients for blood samples and completing paperwork, there were also tasks that were only completed by a small minority such as returning results. The lack of consistency leads to feelings of isolation for GenPs and concerns around recognition by other HCPs. This also increases the potential for role overlap between a GenP and other roles, such as a GC role. This was also shown in a study looking at consent conversations for WGS in the NHS which were carried out by doctors, GCs and GenPs and found a GenP could be a useful asset to facilitate this consent 12 . Concerns around overlap of roles has also been raised by those that work with similar GCA roles in the US 1623 There are parallels to the physician associate role in which there have been concerns that the lines between physician associates and doctors can be blurred, to which the British Medical Association have produced a ‘traffic light’ document to clearly define the tasks a physician associate can and cannot perform 24 . Although a similar ‘traffic light’ document exists to try and define the GenP, GC and clinical geneticist role, not all tasks discussed by GenPs in this study are covered and the variability between GenPs may add to confusion 13 . Our findings suggest there is no clear distinction between a genetic ‘associate’ and a genetic ‘practitioner’ role. This discrepancy may also contribute to variability within the role. A unified title across the NHS may help to tackle some of the issues participants face such as recognition by other HCPs. Similar to the results of previous studies 1716 , the majority of GenPs are interested in a career as a GC. This was expected as the role is often perceived as a ‘stepping stone’ into the GC role. Many benefits of the GenP role that participants described were connected to a future GC career including experience in a CGS and interacting with patients. However, progression into a GC role was identified as a challenge by participants. Further clarification of pathways into the career may be beneficial for individuals in these roles. Only a small number of GenPs plan to remain in their current role, similar to studies in the North America. This has the potential to lead to high turnover rates and concerns around frequent retraining needs which could also impact upon GCs 25 . This could also have a financial impact on NHS trusts having to recruit new staff members. Further research into how to support GenPs with career progression but retain employment may help to mitigate these issues. The majority of GenPs are female, relatively young and highly qualified. The lack of gender diversity seen in these results is similar to findings in the US 17 and to reported demographics of GCs 2526 . The GC profession has been criticised for a lack of diversity 27 and remains significantly female dominated 28 . This study did not look at other demographic details such as race, ethnicity or socioeconomic status and so further research is needed to examine whether the GenP workforce is similarly underrepresented across these demographic groups. Study limitations As the total number of current or previous GenPs in England is unknown, it is not possible to define the survey response rate or the proportion of GenPs that took part. Those that expressed an interest in taking part in the focus groups may have had different views from those who did not take part. The findings of this study are specific to GenPs working in NHS trusts in England and are therefore not directly applicable to populations outside of the NHS in England. It is not currently known if this role is present in other European countries but may be implemented when further genetic tests are offered to patients. As the genetic counselling profession is similar across Europe, it is likely that these roles may also provide benefits to European genetics services. Practice implications A scope of practice and potential competencies for GenPs should be created to define the role and to ensure appropriate boundaries between GenPs and other roles. The results of this study may be useful in providing information on the tasks that GenPs currently are doing and the challenges they are facing. The Association of Genetic Nurses and Counsellors are working to update the ‘traffic light’ document which may help to clarify the role. Further work is needed to assess the diversity of the GenP workforce and the equity of access to opportunities for progression. Declarations Data Availability Statement Full transcripts and survey responses are available from the corresponding author upon reasonable request. Acknowledgments We would like to thank the participants of this study for their contributions. We would also like to thank Melissa Hill, Michelle Peter and Morgan Daniel at Great Ormond Street Hospital and Lorraine Cowley at the Northern Genetics Service for their feedback. This project would not have been possible without the support of the AGNC committee, particularly Roberta Rizzo and Ellie Quinn. Author Contribution Statement SL, BL and AP worked together to design the project, including the survey and corresponding topics for focus group discussion. SL facilitated the focus groups with BL moderating. AP was the notetaker. BL initially coded the transcripts, and further analysis was carried out by BL, SL and AP. SL, BL and AP wrote the paper together. SL, BL and AP are joint first authors. Funding No funding was received for this study. Competing Interests The authors declare no competing interests. References Bagger FO, Borgwardt L, Jespersen A.S. et al. Whole genome sequencing in clinical practice. BMC Med Genomics. 2024; https://doi.org/10.1186/s12920-024-01795-w NHS England. Accelerating genomic medicine in the NHS: a strategy for embedding genomics in the NHS over the next 5 years. 2022a; https://www.england.nhs.uk/publication/accelerating-genomic-medicine-in-the-nhs/ NHS England. 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Additional Declarations There is no duality of interest Supplementary Files Appendices.docx Cite Share Download PDF Status: Published Journal Publication published 28 Oct, 2025 Read the published version in European Journal of Human Genetics → Version 1 posted Editorial decision: revise 30 Jul, 2025 Review # 3 received at journal 11 Jun, 2025 Review # 1 received at journal 06 Jun, 2025 Reviewer # 3 agreed at journal 27 May, 2025 Reviewer # 2 agreed at journal 25 May, 2025 Reviewer # 1 agreed at journal 20 May, 2025 Reviewers invited by journal 15 Apr, 2025 Submission checks completed at journal 14 Apr, 2025 Editor assigned by journal 09 Apr, 2025 First submitted to journal 09 Apr, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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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-6413552","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":443053052,"identity":"71c535bf-6ebb-40f1-a6ae-5debb67996e7","order_by":0,"name":"Bethany Lumborg","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAwElEQVRIiWNgGAWjYBACAwbmBgbGBiCLvYGNWC2MUC08ByBaeIjXIpFApBZzBsY2qZs7bPLlI98ee/iD4Y6cPSEtlg2MbdK5Z9IsN97OSzfmYXhmTNhhB0Ba2g4bGM7OMZNmYDic2EO8lplnzCR/MByuJ16LvASPmQQPw+EEgg6zbGZstgb6xcCAB+gwHoPDhj0HCGgxZ28+eDt3h42BfDvIYRWH5dkbCFnDDHchmCSkHBnIEzR8FIyCUTAKRiwAANd6OfhIC2IHAAAAAElFTkSuQmCC","orcid":"","institution":"Great Ormond Street Hospital for Children NHS Foundation Trust","correspondingAuthor":true,"prefix":"","firstName":"Bethany","middleName":"","lastName":"Lumborg","suffix":""},{"id":443053053,"identity":"651588c8-e8c8-401e-a0ad-a07ecd0f7c05","order_by":1,"name":"Scarlett Lake","email":"","orcid":"","institution":"Sheffield Children’s NHS Foundation Trust","correspondingAuthor":false,"prefix":"","firstName":"Scarlett","middleName":"","lastName":"Lake","suffix":""},{"id":443053054,"identity":"3253ad27-bd3d-4ee1-a710-9aa594e1c70b","order_by":2,"name":"Annabel Patton","email":"","orcid":"","institution":"The Newcastle Upon Tyne Hospitals NHS Foundation Trust","correspondingAuthor":false,"prefix":"","firstName":"Annabel","middleName":"","lastName":"Patton","suffix":""}],"badges":[],"createdAt":"2025-04-09 16:07:27","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6413552/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6413552/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1038/s41431-025-01974-y","type":"published","date":"2025-10-28T04:00:00+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":94636038,"identity":"eb984a1d-8984-4369-b022-5af8ca553fb3","added_by":"auto","created_at":"2025-10-29 07:07:01","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":591639,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6413552/v1/220c0a0d-b786-4764-8315-4a6be3859757.pdf"},{"id":81376734,"identity":"8cb55305-0740-4d02-82c8-3d554b5f2aff","added_by":"auto","created_at":"2025-04-25 11:45:02","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":17702,"visible":true,"origin":"","legend":"","description":"","filename":"Appendices.docx","url":"https://assets-eu.researchsquare.com/files/rs-6413552/v1/6880533c72e29c1069589583.docx"}],"financialInterests":"There is no duality of interest","formattedTitle":"The role of NHS genomic associates, assistants, and practitioners in England: Demographics, career plans and challenges faced","fulltext":[{"header":"Introduction","content":"\u003cp\u003eWhole genome sequencing (WGS) is becoming the preferred method for diagnosis of suspected genetic conditions, including in rare diseases and certain types of cancer \u003csup\u003e1\u003c/sup\u003e. In England, WGS is a diagnostic test in routine care, through the NHS Genomic Medicine Service (GMS) \u003csup\u003e2\u003c/sup\u003e. The GMS is a national service responsible for all genetic and genomic tests, facilitated through the network of seven genomic laboratory hubs, with each hub delivering services to a particular region \u003csup\u003e3\u003c/sup\u003e. The GMS centralises and mainstreams WGS testing, allowing both genetic and non-genetic clinicians to order testing with standardised criteria from the National Genomic Test Directory \u003csup\u003e4\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eThe increasing number of patients accessing genomic testing is, and continues to be a challenge, particularly with current pressures on clinician time and workload. With clinical teams outside of a clinical genetics service (CGS) now able to request genomic testing, healthcare professionals (HCPs) need to be adequately trained, and pathways developed and reviewed to ensure consent for genomic testing is taken by an appropriate individual \u003csup\u003e5\u003c/sup\u003e. With a move towards genomic sequencing rather than single gene testing, patients need to be informed about the potential complex outcomes, such as variants of uncertain significance and incidental findings \u003csup\u003e6\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eIn the GMS, the consent process follows a \u0026lsquo;patient choice\u0026rsquo; model, covering consent for diagnostic WGS testing as well as the patient\u0026rsquo;s decision to include their data in the National Genomic Research Library, a database that enables approved researchers to access de-identified WGS sequences \u003csup\u003e7\u003c/sup\u003e. Consent for both is documented on a standardised \u0026lsquo;Record of Discussion\u0026rsquo; form \u003csup\u003e8\u003c/sup\u003e. The preferred analytical pathway of WGS requires samples and consent from the patient and their parents, to perform trio WGS analysis \u003csup\u003e9\u003c/sup\u003e. While a family trio can be managed on one referral form, three record of discussion forms and three genetic test request forms for samples are required. This massively increases the workload of each clinician requesting WGS.\u003c/p\u003e \u003cp\u003eDespite mainstream clinicians being able to request WGS through the GMS, complex cases still require a referral to CGS for specialist input from clinical geneticists and/or genetic counsellors (GCs). This adds to the demands faced by CGS\u003csup\u003e10\u003c/sup\u003e. Training of other HCPs to assist with the consent process was suggested as way of reducing these demands, when the GMS initially commenced in 2019 \u003csup\u003e11\u003c/sup\u003e. In a previous study \u003csup\u003e5\u003c/sup\u003e, employing genomic associates to support the consenting process was identified as a practical strategy to free up clinician\u0026rsquo;s time, allowing them to focus on clinical appointments. Genomic associates represent a \u0026lsquo;novel role\u0026rsquo;, developed specifically to assist with the delivery of mainstream WGS within the GMS \u003csup\u003e12\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eGenomic associates, also known as genetic or genomic practitioners or assistants (GenPs) were first recognised as a support role of a GC by the Association of Genetic Nurses and Counsellors in 2021 \u003csup\u003e13\u003c/sup\u003e. They then conducted a workforce survey in 2023, which identified 37 GenPs across the UK \u003csup\u003e14\u003c/sup\u003e. This survey highlighted a discrepancy in the title of the role between trusts and found that most GenPs are involved in conversations about consent, pre and post clinic work, and liaising with the laboratory, mitigating some of the pressure on clinicians who are requesting genetic testing.\u003c/p\u003e \u003cp\u003eGlobally genetic services are facing issues of time and workload pressures\u003csup\u003e\u003cb\u003e15\u003c/b\u003e\u003c/sup\u003e. In North America, a role commonly known as a \u0026lsquo;Genetic Counselling Assistant\u0026rsquo; (GCA) has been introduced to take on administrative tasks and assist GCs to free up their time for more complex cases \u003csup\u003e16\u003c/sup\u003e. Numbers of these positions have grown in the last few years \u003csup\u003e17\u003c/sup\u003e. While the role of GCAs in North America and GenPs in the UK differ, potentially due to differences in the structure of healthcare models, there are similarities between education levels, time in role and career aspirations.\u003c/p\u003e \u003cp\u003eIn surveys of both GenPs and GCAs many participants are interested in a future career as a GC, \u003csup\u003e1714\u003c/sup\u003e. Although this suggests most GenPs would be interested in a career in genetic counselling, it is not known whether this is something they are actively pursuing, are already in training programmes or whether their GenP role helps towards this goal. In the UK, there are two main entry routes into genetic counselling, either through the NHS Scientist Training Programme (STP) or through completing a Master\u0026rsquo;s programme \u003csup\u003e18\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eWhilst there is expectedly a growing number of GenPs across England, there is a lack of published data and limited information known about the demographics of this group, their training experiences, and future career plans. There is also limited information on the tasks they perform and the benefits and challenges these individuals face. This study aims to understand the variation in these roles and the individuals that take them up. This will be essential to aid workforce planning and set out how this group can assist with the current and future demands on genetics services within the GMS.\u003c/p\u003e"},{"header":"Materials and Methods","content":"\u003cp\u003eStudy design\u003c/p\u003e \u003cp\u003eThis is a mixed methods study comprising of two parts; an online survey followed by semi structured focus groups with survey participants. This approach was taken to combine quantitative data from the survey with qualitative data that further explored the issues raised in the survey \u003csup\u003e19\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eStudy materials\u003c/p\u003e \u003cp\u003eSurvey\u003c/p\u003e \u003cp\u003eThe survey was developed by BL, SL and AP. Prior to dissemination, it was reviewed by social scientists with experience of developing surveys and piloted to a group of genetic counselling trainees for feedback. The survey was anonymous to reduce respondent bias and asked for demographic details to collect data about job role, education levels, training and future plans. Open ended and Likert scale questions were used to gather information around challenges and benefits of these roles.\u003c/p\u003e \u003cp\u003eThe survey was created using the SmartSurvey software and a link was sent to the GenPAN Network (Appendix 1) mailing list. The link was also disseminated by British Society of Genomic Medicine to target any GenPs that may not be members of the GenPAN Network. The final question on the survey asked participants to email the GenPAN Network inbox if they were interested in taking part in the focus groups to ensure the survey remained anonymous.\u003c/p\u003e \u003cp\u003eParticipants and eligibility criteria\u003c/p\u003e \u003cp\u003eParticipants were eligible if they were over 18, employed by an NHS trust in England, currently or previously employed in a GenP role and able to understand written and spoken English. Responses that did not meet these criteria were excluded.\u003c/p\u003e \u003cp\u003eFocus groups\u003c/p\u003e \u003cp\u003eFocus groups were arranged following expressions of interest from those who had completed the survey. Focus groups were semi-structured and topics were prepared in advance guided by survey results, but participants were able to introduce new topics in conversation. A guide for the focus groups was created for use in the group (Supplementary Materials). Thematic analysis was used to identify common themes amongst participants\u0026rsquo; experiences to allow further understanding of the benefits and challenges of the GenP role.\u003c/p\u003e \u003cp\u003e Three focus groups were conducted with 3\u0026ndash;5 participants in each group with an interviewer (SL), a note taker (AP) and a moderator (BL).\u003c/p\u003e \u003cp\u003eApprovals\u003c/p\u003e \u003cp\u003e The study followed the principles of the Declaration of Helsinki. Ethical approval by the NHS Research Ethics Committee review for England was deemed not necessary as the study was considered a service evaluation with participants who were NHS staff members.\u003c/p\u003e \u003cp\u003eData collection\u003c/p\u003e \u003cp\u003eSurvey responses were collected between April and May 2024. Focus groups took place in May and June 2024. Focus groups were recorded and transcribed using Microsoft Teams. Transcriptions were checked for errors to ensure verbatim transcription by the authors.\u003c/p\u003e \u003cp\u003eThe survey was hosted through SmartSurvey. Data was downloaded and stored on a password protected drive which only the authors have access to.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eData analysis\u003c/h2\u003e \u003cp\u003eSmartSurvey generated percentage responses for each answer to each question. Survey data was downloaded as a Microsoft Excel file which was then used to review the data. The data was used to prepare a guide for the focus groups to direct the topics of conversation. No further analysis was completed on the data.\u003c/p\u003e \u003cp\u003eAuto-generated transcripts from the focus groups were amended for typographical errors by SL and AP before being analysed using reflexive thematic analysis. The six phases of thematic set out by Braun and Clarke were followed \u003csup\u003e20\u003c/sup\u003eand further guidance from the Reflexive Thematic Analysis Reporting Guidelines was used \u003csup\u003e21\u003c/sup\u003e. Transcripts were read and reread to allow immersion in the data. BL initially coded the transcripts identifying general themes. BL, SL and AP then discussed these themes and performed further fine coding of the themes to refine them. BL and SL used NVivo software to assist with this.\u003c/p\u003e \u003cp\u003eReflexivity\u003c/p\u003e \u003cp\u003eAll researchers were female, BL had previous experience of qualitative interviewing methods, and none had any prior relationships with the participants other than communication through GenPAN Network events. At the time of data collection, BL and AP were employed as GenPs and SL was a trainee GC with previous employment in a GenP role. BL was enrolled in a Genetic and Genomic Counselling Masters course.\u003c/p\u003e \u003cp\u003eAs note taker, AP wrote reflexive statements throughout data collection and reflected on the initial responses to discussions in focus groups, pulling out potential themes for discussion during and after each focus group before transcription and analysis. When discussing themes, AP revisited these statements and considered these during the analysis process.\u003c/p\u003e \u003cp\u003eThe authors are consciously aware of the bias their backgrounds of working within a GenP role and having interacted with the participants in previous GenPAN Network communications may bring to this analysis and have reflected upon this \u003csup\u003e22\u003c/sup\u003e\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cp\u003eSurvey findings\u003c/p\u003e \u003cp\u003eThere were 59 responses to the survey. Three responses were removed as they did not meet the eligibility criteria. 56 responses were used. 48 respondents were currently employed as GenPs and eight had previously worked as a GenP.\u003c/p\u003e \u003cp\u003eDemographic information\u003c/p\u003e \u003cp\u003eDemographic information from participants is shown in Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e. The majority were female (93%) and under 30 years of age (84%). GenPs from all seven Genomic Laboratory Hubs responded, with the largest number from Central and South.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eDemographic information from participants currently or previously employed as GenPs\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"3\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c2\" namest=\"c1\"\u003e \u003cp\u003eDemographics\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eGenPs \u003cem\u003en\u003c/em\u003e (%)\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGender\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e52 (93)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOther\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4 (7)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAge at beginning of role\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e18\u0026ndash;25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e29 (52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e26\u0026ndash;30\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18 (32)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e31+\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9 (16)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eCurrent age\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e18\u0026ndash;25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18 (32)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e26\u0026ndash;30\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e29 (52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e31+\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e8 (14)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGenomic Laboratory Hub\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eCentral and South\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e17 (30)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eEast\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (11)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNorth East and Yorkshire\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5 (9)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNorth Thames\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e8 (14)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNorth West\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e7 (13)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eSouth East\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e8 (14)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eSouth West\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e3 (5)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"3\"\u003eEmployment information\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eA summary of employment information is given in Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e. Most individuals reported \u0026lsquo;Genetic or Genomic Associate\u0026rsquo; as their job title (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;33, 59%). The majority are employed at Band 5 (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;42, 75%), on fixed term contracts (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;36, 64%) work full time (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;48, 86%) and had been in their role for less than two years (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;49, 88%).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eEmployment information from participants currently or previously employed as GenPs.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"3\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c2\" namest=\"c1\"\u003e \u003cp\u003eEmployment information\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eGenPs \u003cem\u003en\u003c/em\u003e (%)\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTitle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eGenetic/Genomic Assistant\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (4)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eGenetic/Genomic Associate\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e33 (59)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eGenetic/Genomic Practitioner\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e19 (34)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOther\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (4)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAgenda for Change Band\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBand 3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (4)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBand 4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e9 (16)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBand 5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e42 (75)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBand 6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e3 (5)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eContract type\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFixed term\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e36 (64)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003ePermanent\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18 (32)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOther\u003csup\u003ec\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (4)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eHours per week\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFull time (37.5 hours or more)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e48 (86)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e20\u0026ndash;37.5 hours\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e7 (13)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eLess than 20 hours\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1 (2)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePrimary work setting\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eWithin a clinical genetics service\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e45 (80)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eWithin a mainstream service\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10 (18)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOther\u003csup\u003ed\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1 (2)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTime in role\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eLess than six months\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e11 (20)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eSix months to one year\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18 (32)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOne to two years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e20 (36)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTwo to four years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5 (9)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eOver four years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e2 (4)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003e \u003csup\u003e \u003cem\u003ea\u003c/em\u003e \u003c/sup\u003e \u003cem\u003eOther job titles that did not fit into categories of \u0026lsquo;Assistant\u0026rsquo;, \u0026lsquo;Associate\u0026rsquo; or \u0026lsquo;Practitioner\u0026rsquo;.\u003c/em\u003e\u003c/p\u003e \u003cp\u003e \u003csup\u003e \u003cem\u003eb\u003c/em\u003e \u003c/sup\u003e \u003cem\u003eSet pay scheme for nurses and most other staff other than doctors in the NHS.\u003c/em\u003e\u003c/p\u003e \u003cp\u003e \u003csup\u003e \u003cem\u003ec\u003c/em\u003e \u003c/sup\u003e \u003cem\u003eOther contracts including bank work and secondments.\u003c/em\u003e\u003c/p\u003e \u003cp\u003e \u003csup\u003e \u003cem\u003ed\u003c/em\u003e \u003c/sup\u003e \u003cem\u003eOne participant worked across both mainstream and clinical genetics.\u003c/em\u003e\u003c/p\u003e \u003cp\u003eThe majority of GenPs were based within a CGS (n\u0026thinsp;=\u0026thinsp;45, 80%). Most assisted CGS clinicians (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;42, 75%) but GenPs also assisted a wide range of specialities most commonly paediatrics (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;23, 41%), cancer (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;22, 39%) and neurology (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;20, 36%).\u003c/p\u003e \u003cp\u003eEducation and career plans\u003c/p\u003e \u003cp\u003eAll respondents had completed a Bachelor's degree with 43% having a Master\u0026rsquo;s degree or higher. The most common degree subjects were Biomedical Science, Genomic Medicine, Genetics, and Genetic Counselling. Around half (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;29, 52%) of participants had completed a training course before starting as a GenP including counselling skills courses and FutureLearn modules. 55% of participants felt they had adequate training for their role and the majority (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;38, 68%) do not participate in any formal clinical or counselling supervision.\u003c/p\u003e \u003cp\u003eOf the 48 participants who were currently employed as a GenP, 65% are planning to become GCs, with 8 currently on a training programme and 3 having already completed a programme. A further 11 indicated that they are undecided on pursuing a genetic counselling career. Only four (8%) currently employed GenPs wish to continue in their current role. Other career plans included working in a different position in genomics (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;9, 19%), pursuing higher education or training (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;3, 6%) or working in a different position within (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;5, 10%) or outside (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;2, 4%) the NHS.\u003c/p\u003e \u003cp\u003eOf the previously employed GenPs who participated (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;8), 6 are currently on the STP and 2 have previously completed a training programme.\u003c/p\u003e \u003cp\u003eRole\u003c/p\u003e \u003cp\u003eThe tasks performed by GenPs varied. The majority undertake administrative tasks (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;47, 84%), chase patients for blood samples (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;47, 84%), complete records of discussion and/or consent forms (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;45, 80%), undertake data entry (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;38, 68%), complete patient demographic information on test order forms (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;37, 66%) and consent patients for WGS (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;36, 64%). Whilst there were no clear differences between Practitioner and Associate roles, Assistants (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;2, 4%) were not involved in consenting patients for testing or completing consent forms.\u003c/p\u003e \u003cp\u003e When asked which tasks participants perform most frequently, there was again overlap between Practitioner and Associate roles. These are shown in Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eTop three tasks carried out by Practitioners and Associates\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePractitioner\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eAssociate\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTask\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eGenPs \u003cem\u003en\u003c/em\u003e (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTask\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eGenPs \u003cem\u003en\u003c/em\u003e (%)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eConsenting patients for WGS\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e17 (89)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eChasing blood samples from patients\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e16 (48)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eCompleting Records of Discussion and/or consent forms\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e12 (63)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTaking family history\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e14 (42)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eChasing blood samples from patients\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e10 (53)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eConsenting patients for WGS\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e13 (39)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eMost participants (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;52, 93%) understood the scope of their role with few (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;8, 14%) being asked to frequently complete tasks beyond their capabilities. When asked which tasks are outside of the scope of their roles, contacting patients with negative (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;44, 79%), uncertain (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;49, 88%) or positive (\u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;49, 88%) results were most commonly identified.\u003c/p\u003e \u003cp\u003eFocus Groups\u003c/p\u003e \u003cp\u003e17 GenPs contacted us following the survey with 11 taking part in three focus groups.\u003c/p\u003e \u003cp\u003ePerceived value of working in a GenP role\u003c/p\u003e \u003cp\u003e Participants discussed several benefits of the GenP role. Working alongside GCs and clinical geneticists was highlighted. Participants felt they had the opportunity to gain experience of the GC role and an insight into a CGS. Being able to experience different areas within a CGS, for example prenatal genetics, was also identified as a benefit and helped to build good working relationships with the wider department.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;For me personally, it was working alongside genetic counsellors\u0026hellip; being able to shadow their clinics sometimes and even shadow some consultant clinics and things and sort of be a part of that life\u0026rdquo;\u003c/em\u003e (P8)\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I absolutely loved being part of an MDT. I think it was fantastic experience and it sort of gave me that awareness of how our department fits into the wider clinical team as well\u0026rdquo;\u003c/em\u003e (P6)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e Many participants commented on the development of their skills whilst working as a GenP including interacting with patients and enjoying the problem-solving aspect of the role.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I quite like the kind of problem-solving nature of some of the tasks we do kind of. I don\u0026rsquo;t know about other people, but we do kind of get kind of \u0026lsquo;if you could just find out a bit more of information about this patient\u0026rsquo;\u0026rdquo;\u003c/em\u003e (P10)\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;You get a lot of skills from it, in terms of conversations with patients and families\u0026rdquo;\u003c/em\u003e (P1)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eHaving a positive impact on patient care was highlighted as a benefit and the sense of fulfilment that came with this.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;You\u0026rsquo;ve actually aided those patients and accessing the service and navigating the service\u0026rdquo;\u003c/em\u003e (P9)\u003c/p\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;You feel like you have a big impact in someone\u0026rsquo;s care. That\u0026rsquo;s really rewarding\u0026rdquo;\u003c/em\u003e (P4)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eLack of a defined scope\u003c/p\u003e \u003cp\u003eSeveral participants raised that there was a lack of a defined scope of their individual roles and the focus group discussion identified variation between GenP tasks in different trusts\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;The role doesn\u0026rsquo;t seem to be standardised between each trust\u0026rdquo;\u003c/em\u003e (P11)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eThis lack of standardisation can make setting boundaries difficult and can affect recognition of the role by other HCPs.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;I don\u0026rsquo;t really know what my job is defined as, as to what I can say no to\u0026rdquo;\u003c/em\u003e (P2)\u003c/p\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;It is harder for people to know what a GA [genetic associate] does if actually what a GA does varies\u0026rdquo;\u003c/em\u003e (P7)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eParticipants raised that a clear distinction between those in \u0026lsquo;genetic associate\u0026rsquo; and \u0026lsquo;genetic practitioner\u0026rsquo; role would help define the roles.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;Just a really clear document essentially that explains the different banding and the differences between certain roles\u0026rdquo;\u003c/em\u003e (P1)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eFrustration at the lack of opportunities for career progression\u003c/p\u003e \u003cp\u003eAnother major theme raised by participants was frustration around career progression and future plans.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;There aren\u0026rsquo;t any kind of clear ways to kind of progress and move up from this role\u0026rdquo;\u003c/em\u003e (P3)\u003c/p\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;It\u0026rsquo;s very much a junior sort of feeder role into genetic counselling and I don\u0026rsquo;t see much sort of progression beyond that or kind of alternative to that\u0026rdquo;\u003c/em\u003e (P4)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003e There was a particular frustration towards accessing a GC career and the lack of clear pathways into the career.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;It promised it was going to be a stepping stone into genomic counselling and it felt like it did the opposite\u0026rdquo;\u003c/em\u003e (P5)\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I don\u0026rsquo;t think the pathways are streamlined and that say you\u0026rsquo;re in a situation where you can\u0026rsquo;t get onto the STP or the MSc [Masters course] is not feasible in terms of the cost and the finance side of it, then there\u0026rsquo;s not really any clear pathways for progressing onto the role of a genetic counsellor\u0026rdquo;\u003c/em\u003e (P1)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eParticipants felt there were different opportunities working within a CGS and working in a mainstream setting. Those in mainstream settings felt isolated due to this.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;The reason for doing this job was potentially to work with genetic counsellors\u0026hellip;get some you know advice\u0026hellip;hear about how they worked but then kind of starting and finding out that that is not going to be the case\u0026hellip;is kind of a strange experience\u0026rdquo;\u003c/em\u003e (P3)\u003c/p\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;There\u0026rsquo;s a huge difference between those working in clinical genetics and then us working in mainstream which just feels a bit more isolated\u0026hellip;there\u0026rsquo;s so much more we could get from the role if we were working within clinical genetics\u0026hellip;it feels frustrating that you don\u0026rsquo;t necessarily get the same opportunities\u0026rdquo;\u003c/em\u003e (P1)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eParticipants were keen for further development of skills and wanted some further training.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;Maybe there could be further training that supports some types of clinical roles\u0026rdquo;\u003c/em\u003e (P4)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eService challenges\u003c/p\u003e \u003cp\u003e Participants also identified specific challenges that they faced in their individual services. Particular challenges mentioned were calling patients out of the blue, having to contact patients to check if a blood sample had been taken, chasing HCPs and issues with referrals to GenPs.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I found the most challenging part for me personally was cold calling patients\u0026rdquo;\u003c/em\u003e (P8)\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;The other thing I find quite challenging is not being a pest to patients when I\u0026rsquo;m chasing blood samples\u0026rdquo;\u003c/em\u003e (P10)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eParticipants highlighted that a potential improvement to their current set up would be to offer official clinic slots to patients.\u003c/p\u003e \u003cp\u003eInstability of the role\u003c/p\u003e \u003cp\u003eIssues with high turnover rates were highlighted as a challenge, particularly from individuals leaving to pursue genetic counselling training through the STP. Participants also discussed the impact of a fixed term contract and how settling into the role could take a large proportion of that contract.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;You almost start to manage getting your footing about the six-month mark into the role so the impact you have is only say six months or whatever\u0026rsquo;s left of the contract because that first chuck of time you\u0026rsquo;re just there trying to navigate your way around\u0026rdquo;\u003c/em\u003e (P9)\u003c/p\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;If someone leaves a role and someone new has to be brought in\u0026hellip;it\u0026rsquo;s probably going to be after that person\u0026rsquo;s left and so you can\u0026rsquo;t learn from the person already in post and so it\u0026rsquo;s just quite a high turnover of someone having to relearn all the tasks every time\u0026rdquo;\u003c/em\u003e (P7)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e \u003cp\u003eParticipants also raised feelings of uncertainty around having a fixed term contract.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e \u003cem\u003e\u0026ldquo;It is a lot of uncertainty of what to do when your twelve month or however long contract runs out\u0026rdquo;\u003c/em\u003e (P2)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eTo our knowledge, this is the largest workforce evaluation of current and previous GenPs in NHS Trusts in England. Our findings show GenPs are present in all seven genomic laboratory hubs across England and that the majority are female, under 30 years old and have high levels of education. GenPs identified several benefits of their roles including exposure to a CGS and development of skills. However, there is variation between the tasks performed. Our findings suggest that most GenPs have an interest in pursuing a career in genetic counselling.\u003c/p\u003e \u003cp\u003eThis data shows that the scope of the GenP role varies; it is inconsistent both within and between centres. Whilst there are common tasks that the majority of GenPs perform such as general administrative tasks, chasing patients for blood samples and completing paperwork, there were also tasks that were only completed by a small minority such as returning results. The lack of consistency leads to feelings of isolation for GenPs and concerns around recognition by other HCPs. This also increases the potential for role overlap between a GenP and other roles, such as a GC role. This was also shown in a study looking at consent conversations for WGS in the NHS which were carried out by doctors, GCs and GenPs and found a GenP could be a useful asset to facilitate this consent \u003csup\u003e12\u003c/sup\u003e. Concerns around overlap of roles has also been raised by those that work with similar GCA roles in the US \u003csup\u003e1623\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eThere are parallels to the physician associate role in which there have been concerns that the lines between physician associates and doctors can be blurred, to which the British Medical Association have produced a \u0026lsquo;traffic light\u0026rsquo; document to clearly define the tasks a physician associate can and cannot perform\u003csup\u003e24\u003c/sup\u003e. Although a similar \u0026lsquo;traffic light\u0026rsquo; document exists to try and define the GenP, GC and clinical geneticist role, not all tasks discussed by GenPs in this study are covered and the variability between GenPs may add to confusion \u003csup\u003e13\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eOur findings suggest there is no clear distinction between a genetic \u0026lsquo;associate\u0026rsquo; and a genetic \u0026lsquo;practitioner\u0026rsquo; role. This discrepancy may also contribute to variability within the role. A unified title across the NHS may help to tackle some of the issues participants face such as recognition by other HCPs.\u003c/p\u003e \u003cp\u003eSimilar to the results of previous studies \u003csup\u003e1716\u003c/sup\u003e, the majority of GenPs are interested in a career as a GC. This was expected as the role is often perceived as a \u0026lsquo;stepping stone\u0026rsquo; into the GC role. Many benefits of the GenP role that participants described were connected to a future GC career including experience in a CGS and interacting with patients. However, progression into a GC role was identified as a challenge by participants. Further clarification of pathways into the career may be beneficial for individuals in these roles.\u003c/p\u003e \u003cp\u003eOnly a small number of GenPs plan to remain in their current role, similar to studies in the North America. This has the potential to lead to high turnover rates and concerns around frequent retraining needs which could also impact upon GCs \u003csup\u003e25\u003c/sup\u003e. This could also have a financial impact on NHS trusts having to recruit new staff members. Further research into how to support GenPs with career progression but retain employment may help to mitigate these issues.\u003c/p\u003e \u003cp\u003eThe majority of GenPs are female, relatively young and highly qualified. The lack of gender diversity seen in these results is similar to findings in the US \u003csup\u003e17\u003c/sup\u003e and to reported demographics of GCs \u003csup\u003e2526\u003c/sup\u003e. The GC profession has been criticised for a lack of diversity \u003csup\u003e27\u003c/sup\u003e and remains significantly female dominated \u003csup\u003e28\u003c/sup\u003e. This study did not look at other demographic details such as race, ethnicity or socioeconomic status and so further research is needed to examine whether the GenP workforce is similarly underrepresented across these demographic groups.\u003c/p\u003e \u003cp\u003eStudy limitations\u003c/p\u003e \u003cp\u003eAs the total number of current or previous GenPs in England is unknown, it is not possible to define the survey response rate or the proportion of GenPs that took part. Those that expressed an interest in taking part in the focus groups may have had different views from those who did not take part.\u003c/p\u003e \u003cp\u003eThe findings of this study are specific to GenPs working in NHS trusts in England and are therefore not directly applicable to populations outside of the NHS in England. It is not currently known if this role is present in other European countries but may be implemented when further genetic tests are offered to patients. As the genetic counselling profession is similar across Europe, it is likely that these roles may also provide benefits to European genetics services.\u003c/p\u003e \u003cp\u003ePractice implications\u003c/p\u003e \u003cp\u003eA scope of practice and potential competencies for GenPs should be created to define the role and to ensure appropriate boundaries between GenPs and other roles. The results of this study may be useful in providing information on the tasks that GenPs currently are doing and the challenges they are facing. The Association of Genetic Nurses and Counsellors are working to update the \u0026lsquo;traffic light\u0026rsquo; document which may help to clarify the role. Further work is needed to assess the diversity of the GenP workforce and the equity of access to opportunities for progression.\u003c/p\u003e"},{"header":"Declarations","content":"\u003ch2\u003eData Availability Statement\u0026nbsp;\u003c/h2\u003e\n\u003cp\u003eFull transcripts and survey responses are available from the corresponding author upon reasonable request.\u003c/p\u003e\n\u003ch2\u003eAcknowledgments\u003c/h2\u003e\n\u003cp\u003eWe would like to thank the participants of this study for their contributions. We would also like to thank Melissa Hill, Michelle Peter and Morgan Daniel at Great Ormond Street Hospital and Lorraine Cowley at the Northern Genetics Service for their feedback. This project would not have been possible without the support of the AGNC committee, particularly Roberta Rizzo and Ellie Quinn. \u0026nbsp;\u003c/p\u003e\n\u003ch2\u003eAuthor Contribution Statement\u003c/h2\u003e\n\u003cp\u003eSL, BL and AP worked together to design the project, including the survey and corresponding topics for focus group discussion. SL facilitated the focus groups with BL moderating. AP was the notetaker. BL initially coded the transcripts, and further analysis was carried out by BL, SL and AP. SL, BL and AP wrote the paper together. SL, BL and AP are joint first authors.\u0026nbsp;\u003c/p\u003e\n\u003ch2\u003eFunding\u003c/h2\u003e\n\u003cp\u003eNo funding was received for this study.\u0026nbsp;\u003c/p\u003e\n\u003ch2\u003eCompeting Interests\u0026nbsp;\u003c/h2\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003e Bagger FO, Borgwardt L, Jespersen A.S. et al. Whole genome sequencing in clinical practice. BMC Med Genomics. 2024; https://doi.org/10.1186/s12920-024-01795-w\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e NHS England. Accelerating genomic medicine in the NHS: a strategy for embedding genomics in the NHS over the next 5 years. 2022a; https://www.england.nhs.uk/publication/accelerating-genomic-medicine-in-the-nhs/\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e NHS England. Genomic Laboratory Hubs.2022b; https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/genomic-laboratory-hubs/.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Phillips KA, Douglas MP, Wordsworth S, Buchanan J, Marshall DA. Availability and funding of clinical genomic sequencing globally. BMJ Glob Health. 2021; https://doi.org/10.1136/bmjgh-2020-004415.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Friedrich B, Vindrola-Padros C, Lucassen AM, Patch C, Clarke A, Lakhanpaul M, Lewis C. \"A very big challenge\": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England. Front Genet. 2024; https://doi.org/10.3389/fgene.2023.1282034.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Clift K, Macklin S, Halverson C. et al. Patients\u0026rsquo; views on variants of uncertain significance across indications. J Community Genet. 2020; https://doi.org/10.1007/s12687-019-00434-7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e HEE Genomics Education Programme. Facilitating genomic testing: A competency framework. 2021; https://www.genomicseducation.hee.nhs.uk/consent-a-competency-framework/3.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e NHS England. NHS Genomic Medicine Service record of discussion form. NHS England. 2021\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e North East and Yorkshire GLH. Guidance document for the completion of the WGS Rare Disease Trio referral form and Record of Discussion. 2021; https://ney-genomics.org.uk/wp-content/uploads/2021/07/Guidance-for-Completing-WGS-Test-Order-Process.pdf.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Kohut K, Limb S, Crawford G. The Changing Role of the Genetic Counsellor in the Genomics Era. 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BMA position statement on physician associates and anaesthesia associates 2023. 2023.https://www.bma.org.uk/news-and-opinion/bma-position-statement-on-physician-associates-and-anaesthesia-associates.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Association of Genetic Nurses and Counsellors. AGNC UK workforce survey. 2019.https://www.agnc.org.uk/media/11640/agnc-workforce-survey-2019.docx.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e National Society of Genetic Counselors. 2024 Professional Status Survey Executive Summary 2024. https://www.nsgc.org/Portals/0/Docs/Policy/PSS%202024%20Executive%20Summary_Final.pdf?ver=xMyKy1O8H749GCBpxy6NiA%3d%3d.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Mittman IS, Downs K. Diversity in genetic counseling: past, present and future. 2008; \u003cb\u003e17\u003c/b\u003e: 301\u0026ndash;313.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003e Kopesky JW, Veach PM, Lian F, Leroy BS. Where are the males? Gender differences in undergraduates\u0026rsquo; interest in and perceptions of the genetic counseling profession. 2011; \u003cb\u003e20\u003c/b\u003e: 341\u0026ndash;354.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[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":"","lastPublishedDoi":"10.21203/rs.3.rs-6413552/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6413552/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eAs the range and complexity of genomic testing has expanded over the past decade, genetic services need support to provide the best care for patients. Throughout the NHS in England, genetic assistant, associate and practitioner roles (GenPs) have been created to tackle some of the issues genetic services are facing. However, to date there is limited information about these roles and the individuals that take these up. The aim of this workforce evaluation was to explore the demographics, career plans and roles of GenPs as well as the benefits and challenges for these individuals to improve service delivery and care for patients.\u003c/p\u003e \u003cp\u003eThis is a mixed methods study. Firstly, an online survey was sent to current and previous GenPs to which we received 56 eligible responses. Those who completed the survey were invited to take part in focus groups to explore the benefits and challenges of these roles further. 17 GenPs expressed interest and 11 took part. These were recorded, transcribed verbatim and thematically analysed to extract themes.\u003c/p\u003e \u003cp\u003eOur results show there is variability between tasks performed by individuals in these roles even with the same job titles. This highlights a need for a defined scope to ensure appropriate boundaries of the role. This data also highlights the need for further training, support and career progression pathways for these individuals.\u003c/p\u003e","manuscriptTitle":"The role of NHS genomic associates, assistants, and practitioners in England: Demographics, career plans and challenges faced","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-04-25 11:44:57","doi":"10.21203/rs.3.rs-6413552/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"revise","date":"2025-07-30T09:03:38+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-06-11T23:19:13+00:00","index":3,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-06-06T06:18:11+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-05-27T10:27:58+00:00","index":3,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-05-25T09:32:24+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-05-20T21:59:46+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2025-04-15T05:58:43+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-04-14T17:39:09+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-04-09T16:02:49+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2025-04-09T16:02:49+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":"8fb2bdc7-886e-41a5-8d41-5cdf5bd7b5c6","owner":[],"postedDate":"April 25th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":47168116,"name":"Health sciences/Health care/Health policy"},{"id":47168117,"name":"Health sciences/Health care/Health services/Genetic services/Genetic counselling"},{"id":47168118,"name":"Health sciences/Health care/Health services/Genetic services/Genetic testing"}],"tags":[],"updatedAt":"2025-10-29T07:06:57+00:00","versionOfRecord":{"articleIdentity":"rs-6413552","link":"https://doi.org/10.1038/s41431-025-01974-y","journal":{"identity":"european-journal-of-human-genetics","isVorOnly":false,"title":"European Journal of Human Genetics"},"publishedOn":"2025-10-28 04:00:00","publishedOnDateReadable":"October 28th, 2025"},"versionCreatedAt":"2025-04-25 11:44:57","video":"","vorDoi":"10.1038/s41431-025-01974-y","vorDoiUrl":"https://doi.org/10.1038/s41431-025-01974-y","workflowStages":[]},"version":"v1","identity":"rs-6413552","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6413552","identity":"rs-6413552","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}