Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed

Genetic counsellors (GCs) across the world are increasingly transitioning beyond clinical genetics services to meet the growing demands for genomic healthcare. This presents a unique opportunity for GCs to be ‘genomic change agents’ as they work in alternative models of care. Through various innovative models of mainstream care funded through a change program, we explored the views of GCs regarding their position as ‘genomic change agents’ and what may hinder or drive the success of their evolving roles. Guided by the Diffusion of Innovation Theory, we conducted qualitative interviews with all twelve GCs employed by the change program in different models of providing genomics across five specialties in Australia. Audio-recordings of all interviews were transcribed verbatim and analysed using inductive content analysis. Findings show that early in these new roles, participants held varied descriptions of ‘genomics mainstreaming’: some envisioned it as an end state exclusive to medical specialists practicing genomics while others saw the involvement of GCs as crucial. Participants believed they were uniquely positioned to expedite patient access to genomic testing and counselling and enhance medical specialists’ capability to use genomics. Challenges included hesitancy of some medical specialists regarding the value of genomics in healthcare and potential tension arising from distinct perspectives and practice between genetic and non-genetic professionals. Participants anticipated a decline in the standard of care when non-genetic colleagues managed consent discussion and result disclosure. Our study underscores leadership support and peer connection with those in similar roles as essential elements for GCs’ success in mainstream settings.

Trang Thu Do, Melissa Martyn, Belinda McClaren, Alison McEwen, Clara Gaff