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Open AccessFeature PaperArticle

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

1
Coriell Institute for Medical Research, Camden, NJ 08003, USA
2
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
*
Authors to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(2), 29; https://doi.org/10.3390/jpm10020029
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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MDPI and ACS Style

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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