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.
Highlights
Pharmacogenomic (PGx) testing is increasingly entering mainstream clinical practice and is of great interest to patients and providers [1]
The purpose of this review is to provide an overview of the attitudes, beliefs, and experiences with PGx testing among patients and the general public
In a recent survey conducted by the authors at a state fair, 89% of members of the general public believed that “pharmacogenomics will tell you the best medication to treat your condition,” while 67% of members of the general public believed that “when deciding what medication is best for you, your genetic makeup is more important than age, weight, or other medications you are taking”
Summary
Pharmacogenomic (PGx) testing is increasingly entering mainstream clinical practice and is of great interest to patients and providers [1]. As the clinical utility and uptake of PGx has grown, conversations about PGx have shifted from “should we do PGx testing?” to “how should we best implement PGx testing?” As guideline-producing groups, such as the Clinical Pharmacogenetics Implementation Consortium [11], develop recommendations for how to best apply the scientific evidence, and as clinicians and implementation scientists [12] develop best practices for clinical implementation, there is one critical voice that must be heard: the patient. Understanding how patients perceive PGx is essential for providers to be able to anticipate their questions, concerns, and/or needs and to inform the counseling that clinicians provide prior to and after PGx testing. The subject of patient counseling for PGx testing has received little attention. Patient and provider literacy for genetics in general has been described as insufficient and is frequently cited as a barrier to PGx implementation [13,14]. Specific PGx literacy needs have, to our knowledge, never been empirically identified outside of one study that examined the impact of objective numeracy on accurate interpretation of PGx results [15]
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