Perceptions of pharmacogenetic exceptionalism and the implications for clinical management within an electronic health record

Abstract

Genetic exceptionalism refers to a concept that genetic information is distinct from other health data and therefore should have additional safety guards in place. The objective of this study was to establish perceptions of pharmacogenetic (PGx) exceptionalism and genetic information privacy and management within the electronic health record (EHR) from individuals who attended a PGx-focused conference. A 47-question survey was distributed to 370 attendees at a PGx conference in September 2020. The survey assessed demographics, professional characteristics, perceptions of PGx exceptionalism, knowledge of genetic laws and regulations, and EHR management of PGx information. Of the 370 participants invited to take the survey, 30% (n = 110) responded. Most respondents were pharmacists with postgraduate training (76.2%, n = 48). When asked whether PGx information was exceptional, 44% of respondents agreed while 32% disagreed. Agreement with PGx exceptionalism was associated most with respondents' lack of familiarity or knowledge with PGx. Over two-thirds (67%) felt that all members of the healthcare team should be able to access their patients' PGx information without restriction in the EHR. This study identified a lack of unanimity in the perception of PGx exceptionalism and the management of PGx information within the EHR across attendees of a PGx conference. Describing the perception of accessibility of PGx information within the EHR is important to ascertain for designing privacy-related technology, institutional management policies, and legal regulations as this area in genetics is increasingly being implemented into clinical care and clinical standards of care need to be established.