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Background/Aims: Established in 2018, the Genomic Medicine Service (GMS) introduced a national genomic testing directory to expand testing beyond clinical genetics services (“mainstreaming”) and deliver Whole Genome Sequencing (WGS) to patients. WGS presents challenges due to complex results, uncertainty, and incidental findings, while both patients and mainstream clinicians may have limited genetics knowledge. Obtaining informed consent is time-consuming, involving multiple forms and decisions about participation in research. Interviews with GMS stakeholders identified insufficient support for consent and administrative tasks as barriers. To address this, Genomic practitioner/associates (GenPs) have been employed to assist with this WGS process. This study aimed to identify clinician benefits and barriers to utilising GenPs in the WGS consent process, a survey was distributed via professional bodies.
Conclusions: The survey received 116 eligible responses: 56% (n=65) consultants, 28% (n=32) genetic counsellors, and 13% (n=15) specialist registrars, with representation across all GMS services in England. 91% (105/116) were aware of the GenP role, and 96% (89/93) agreed GenP support was useful in WGS with no negative impacts reported. Key benefits included reduced burden on clinicians, improved organisation and efficiency, and enhanced equitable access to WGS. The primary barrier identified was funding for the GenP role. This study highlights strong clinician awareness and support for GenP roles particularly their contribution to reducing administrative burden and improving the WGS consent process. The findings suggest GenPs are successfully addressing practical barriers and allowing clinicians to focus on direct patient care. Wider adoption of these roles may further strengthen mainstream genomic testing.