Attitudes on pharmacogenomic results as secondary findings among medical geneticists

Meghan N. Bartos, Stuart A. Scott, Ethylin Wang Jabs, Hetanshi Naik

Research output: Contribution to journalArticlepeer-review


Objectives As evidence mounts supporting the utility of pharmacogenomic-guided medication management, incorporating pharmacogenomic genes into secondary finding results from sequencing panels is increasingly under consideration. We studied medical geneticists' attitudes on receiving pharmacogenomic results as secondary finding. Methods Four focus groups with 16 medical geneticists total were conducted followed by thematic analysis. Results All participants ordered genetic sequencing tests; however, the majority had rarely or never ordered pharmacogenomic tests (10/16) or prescribed medications with established response variability (11/16). In total 81.3% expressed low comfort interpreting pharmacogenomic results without appropriate clinical resources (13/16). The positives of receiving pharmacogenomic results as secondary finding included prevention of adverse drug reactions in adults, grateful information-seeking patients, the ability to rapidly prescribe more effective treatments and appreciation of the recent advances in both pharmacogenomic knowledge and available guidelines. Negatives included laboratory reporting issues, exclusivity of pharmacogenomic results to certain populations, lengthy reports concealing pharmacogenomic results in patient charts and laboratories marketing to individuals without prior pharmacogenomic knowledge or targeting inappropriate populations. The most desirable pharmacogenomic resources included a universal electronic health record clinical decision support tool to assist identifying and implementing pharmacogenomic results, a specialized pharmacist as part of the care team, additional pharmacogenomic training during medical/graduate school, and a succinct interpretation of pharmacogenomic results included on laboratory reports. Conclusions The majority of participants agreed that adding certain actionable pharmacogenomic genes to the American College of Medical Genetics and Genomics SF list is reasonable; however, this was qualified with a need for additional resources to support implementation.

Original languageEnglish
Pages (from-to)273-280
Number of pages8
JournalPharmacogenetics and Genomics
Issue number8
StatePublished - 1 Oct 2022


  • complex traits
  • electronic health records
  • gene panel
  • genetic testing
  • laboratory reports
  • pharmacogenetics
  • pharmacogenomics
  • precision medicine


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