Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results

• Main Authors: Tara Schmidlen, Amy C. Sturm, Laura B. Scheinfeldt
• Format: Article
• Language: English
• Published: MDPI AG 2020-04-01
• Series: Journal of Personalized Medicine
• Subjects: pharmacogenomics; return of results; genetic counseling; qualitative
• Online Access: https://www.mdpi.com/2075-4426/10/2/29

As pharmacogenomic (PGx) use in healthcare increases, a better understanding of patient needs will be necessary to guide PGx result delivery. The Coriell Personalized Medicine Collaborative (CPMC) is a prospective study investigating the utility of personalized medicine. Participants received online genetic risk reports for 27 potentially actionable complex diseases and 7 drug–gene pairs and could request free, telephone-based genetic counseling (GC). To explore the needs of individuals receiving PGx results, we conducted a retrospective qualitative review of inquiries from CPMC participants who requested counseling from March 2009 to February 2017. Eighty out of 690 (12%) total GC inquiries were focused on the discussion of PGx results, and six salient themes emerged: “general help”, “issues with drugs”, “relevant disease experience”, “what do I do now?”, “sharing results”, and “other drugs”. The number of reported medications with a corresponding PGx result and participant engagement were significantly associated with PGx GC requests (<i>p</i> < 0.01 and <i>p</i> < 0.02, respectively). Our work illustrates a range of questions raised by study participants receiving PGx test results, most of which were addressed by a genetic counselor with few requiring referrals to prescribing providers or pharmacists. These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.