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Open AccessFeature PaperArticle

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

Coriell Institute for Medical Research, Camden, NJ 08003, USA
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
Authors to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(2), 29;
Received: 25 March 2020 / Revised: 17 April 2020 / Accepted: 19 April 2020 / Published: 23 April 2020
(This article belongs to the Special Issue Pharmacogenomics: From Basic Research to Clinical Implementation)
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 (p < 0.01 and p < 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. View Full-Text
Keywords: pharmacogenomics; return of results; genetic counseling; qualitative pharmacogenomics; return of results; genetic counseling; qualitative
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Schmidlen, T.; Sturm, A.C.; Scheinfeldt, L.B. Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results. J. Pers. Med. 2020, 10, 29.

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