In their own words: a qualitative exploration of patients’ perspectives of genetic counseling sessions across clinical disciplines

Genetic counselors (GCs) help individuals navigate living with genetic conditions via models of practice that emphasize GC-defined processes and outcomes. While quantitative, patient-reported measures have assessed patients' experiences and outcomes, there are limited qualitative studies that explore patient-reported impressions of genetic counseling in their own voice. A subset of genetic counseling patients enrolled in the Genetic Counseling Processes Result in Outcomes (GC-PRO) study completed a semi-structured phone or video interview within 1-2 weeks of their genetic counseling session. Transcripts (n = 25) were purposefully sampled from different clinic locations (three institutions), specialties (prenatal, cancer, cardiology, general genetics), participant responses to quantitative surveys, and demographics. A constructivist approach via reflexive thematic analysis identified five themes about the patient experience with GC behaviors and outcomes: (1) Follow my lead; (2) Working collaboratively over time; (3) We value information; (4) GC expertise and caring demeanor are unique; and (5) I left with takeaways. Patients identified the importance of GC behaviors that fostered a patient-led, collaborative session where informational and supportive needs were met in a tailored manner. Clear information-giving from a knowledgeable GC was consistently perceived to be valuable. Participants typically did not enter a session with a predetermined outcome, yet they later identified emotional impacts, gaining new perspectives about genetic information, and feeling empowered by actionable recommendations as outcomes. This research adds to the literature on patient-defined outcomes and perspectives on counseling processes which at times differ from classical provider definitions and serves to support additions to the current models of practice.