Abstract
As 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 utilised 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 56 eligible responses were received. 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 the majority of GenPs are relatively young, highly educated women. There is variability between tasks performed by individuals in these roles even with the same job titles highlighting the need for a defined scope to ensure appropriate boundaries of the role. Many GenPs are interested in becoming genetic counsellors but pathways into this career is a source of frustration.
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Data availability
Full transcripts and survey responses are available from the corresponding author upon reasonable request.
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Acknowledgements
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.
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No funding was received for this study.
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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.
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The authors declare no competing interests.
Ethical approval
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. Informed consent was obtained from all those that took part in this study.
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Appendix 1
The GenPAN Network was set up in March 2023 and is a subcommittee of the AGNC. It provides peer support, networking and CPD opportunities for Genomic Assistants, Associates, and Practitioners. It is a space to share best practice and seek advice from peers regarding shared challenges in this relatively newly established role.
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Lake, S., Lumborg, B. & Patton, A. The role of genomic assistants, associates, and practitioners (GenPs) in the NHS in England: demographics, future career plans and key challenges. Eur J Hum Genet (2025). https://doi.org/10.1038/s41431-025-01974-y
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DOI: https://doi.org/10.1038/s41431-025-01974-y