Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion

Purpose: Timely access to clinical genetics consultations remains a barrier to timely genomic medicine services, which new service delivery models might help address.

Methods: We implemented a genetics electronic consultation (eConsult) service staffed by a primary care physician (PCP) champion, supervised by genetics specialists. Chart reviews from July 2018 to January 2022 examined categories of questions received, e-consultant's recommendations, and outcomes of any conventional genetics referrals. Providers were surveyed on likelihood of ordering a conventional genetics consultation before eConsult and satisfaction with eConsult responses.

Results: Conventional genetics consultation was recommended for 338 out of 462 (73%) eConsults received, among whom 254 out of 338 (75%) had an order placed for a conventional consult by the provider requesting the eConsult. Among all 462 eConsults, including in cases which conventional consult was not recommended, 279 (60%) were referred for conventional genetics consultation, of which 171 out of 279 (61%) completed a consult. Of these, 122 out of 171 (71%) were recommended for genetic testing, and 84 out of 122 (69%) completed testing. The genetic testing of 23 out of 84 (27%) patients identified informative actionable findings. Supervising genetics specialists made substantive revisions to PCP draft responses for only 8% (36/462) of eConsults.

Conclusion: This case series demonstrates that a PCP champion eConsult model can feasibly triage and respond to genetics questions with PCP-relevant content and yield high provider satisfaction. Such a model warrants further evaluation as an addition to the genetic services of health care systems.