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

Abstract

The use of pharmacogenomic (PGx) tests is increasing, but there are not standard approaches to counseling patients on their implications or results. To inform approaches for patient counseling, we conducted a scoping review of published literature on patient experiences with PGx testing and performed a thematic analysis of qualitative and quantitative reports. A structured scoping review was conducted using Joanna Briggs Institute guidance. The search identified 37 articles (involving n = 6252 participants) published between 2010 and 2021 from a diverse range of populations and using a variety of study methodologies. Thematic analysis identified five themes (reasons for testing/perceived benefit, understanding of results, psychological response, impact of testing on patient/provider relationship, concerns about testing/perceived harm) and 22 subthemes. These results provide valuable context and potential areas of focus during patient counseling on PGx. Many of the knowledge gaps, misunderstandings, and concerns that participants identified could be mitigated by pre- and post-test counseling. More research is needed on patients’ PGx literacy needs, along with the development of a standardized, open-source patient education curriculum and the development of validated PGx literacy assessment tools.

Exploring perceptions, knowledge, and attitudes regarding pharmacogenetic testing in the medically underserved

“…Most respondents agreed or strongly agreed that they wanted to learn more about pharmacogenetic testing, were curious about how their genetic code would affect their response to medications, and that pharmacogenetic testing could help their doctor with medication choice. This is consistent with the findings in other patient populations (Trinidad et al, 2015;Allen et al, 2022). Our data also indicated that patient testing expectations could be a potential barrier to patient acceptance of pharmacogenetic test results.…”

“…Previous studies have evaluated various patient populations for their knowledge, attitudes, and perceptions towards pharmacogenetic testing (Rogausch et al, 2006;Zhang et al, 2014;Lachance et al, 2015;Chapdelaine et al, 2021;Kastrinos et al, 2021;Allen et al, 2022;Martin et al, 2022). However, there has been limited evaluation of the views of medically underserved populations.…”

Healthcare professionals' and consumers' knowledge, attitudes, perspectives, and education needs in oncology pharmacogenomics: A systematic review

“…This is the first systematic review to explicitly explore HCPs' and consumers' knowledge, attitudes, perspectives, and education needs for PGx in adult oncology care. Previous reviews included studies reporting on PGx across different specialities 15,42 . Our discipline‐specific approach allows identification for actionable change and advancement of PGx in oncology with greater precision.…”

Public Attitudes toward Pharmacogenomic Testing and Establishing a Statewide Pharmacogenomics Database in the State of Minnesota

“…Early implementation efforts of PGx testing largely relied on institutional support and external funding mechanisms to cover the costs due to the limited insurance coverage and reimbursement of PGx testing [ 18 , 38 , 39 ]. The cost of testing has been repeatedly identified as a major barrier for expansion and large-scale clinical adoption [ 13 , 40 , 41 , 42 ]. Therefore, having a better understanding of the public’s expectations and perspectives on the cost of PGx testing and the willingness-to-pay is an essential step in addressing the financial infrastructure of widespread PGx adoption.…”