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

Abstract

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.

A Scoping Review of Attitudes and Experiences with Pharmacogenomic Testing among Patients and the General Public: Implications for Patient Counseling

“…Of these, 35 met eligibility criteria and were included in the analysis. An additional two articles were identified upon reference review of eligible articles and also included in the analysis, for a final total of 37 articles [ 1 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 ]. Figure 1 summarizes the identification and selection process for inclusion.…”

“…Study methodologies included closed-ended questionnaires ( n = 12) focus groups ( n = 11), semi-structured interviews ( n = 7), open-ended questionnaires ( n = 3), or a mixed-methodological approach ( n = 3). One retrospective qualitative review of correspondence between patients and genetic counselors was also included [ 52 ]. A total of 488 data elements were extracted from the included studies.…”

“…Finally, while not necessarily the primary reason for testing, many participants expressed interest in the potential benefits of PGx for family members with health conditions. For example, one participant in Schmidlen et al [ 52 ] queried, “I need info on my CYP2C9 results and how they are genetically carried to my children. I have a child in critical care that may need this info.”…”

Pharmacogenomics: From Basic Research to Clinical Implementation

“…Two of the special issue articles, Silva et al [ 5 ] and Schmidlen et al [ 6 ], focused on PGx clinical decision support. Silva et al [ 5 ] leveraged a Clinical Semantic Network framework to apply a pharmacogenomic model to patient electronic medical record data.…”

“…Given the increasingly complex challenges to integrating medical informatics data for clinical decision-making, this framework and others like it will be needed to support precision medication management. Schmidlen et al [ 6 ] conducted a retrospective qualitative analysis of genetic counseling requests from participants in a personalized medicine research study and demonstrated the critical role that genetic counselors play in supporting providers in their communication of PGx results to patients and supporting patients in their understanding of PGx results.…”