Developing Pharmacogenomic Reports: Insights from Patients and Clinicians

Abstract

Increasingly, for a variety of indications, patients have their genomes sequenced and actionable results returned. A subset of returned results is pharmacogenomic (PGx) variants involved in the metabolism or action of medications. Although the impact of these variants on health is well‐documented, little research exists on how to communicate these findings to patients and clinicians. We conducted semistructured interviews with end users to understand how best to communicate PGx results. Overall, patients and clinicians had similar opinions regarding report content, delivery, and application. Unique concerns specific to each stakeholder group were also expressed. Patients wanted an easy‐to‐understand individualized report that clinicians utilized to guide their care. Clinicians wanted reports that were easy‐to‐use, actionable, and integrated into their workflow. Implementation of these reports in a clinical setting will allow for broader user feedback and iterative improvement.

Understanding What Information Is Valued By Research Participants, And Why

“…Further, there are tools for reporting these results to patients in understandable ways as well as recommendations on report content. 32 Using these existing resources would limit burden and costs to both researchers and participants and enable clinicians to use results in ways that minimize disruptions to workflow.…”

Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface

“…The large number of reports will allow robust evaluation and improvement. In addition, a pharmacogenomic (PGx) PGR has been developed [ 19 ]. Because PGx results are quite different from causal Mendelian genetic variants, the PGx PGR was developed using the same end user engagement approach as the PGR described here and elsewhere.…”

Genetic Counseling, Personalized Medicine, and Precision Health

“…In 2015, MyCode began to consent patients for return of results for clinically actionable findings following extensive discussions and assessments by the clinical and bioethics teams, community advisory groups, and scientific leaders, as well as patient-participant focus groups (Faucett and Davis 2016). The My-Code Initiative has enabled the study of the return of results protocols and processes in the context of population screening (Schwartz et al 2018), as well as patient-centric initiatives such as patient-facing genomic (Goehringer et al 2018) and pharmacogenomic (Jones et al 2018) laboratory reports. MyCode has also generated data on the prevalence of familial hypercholesterolemia (Abul-Husn et al 2016), hereditary breast and ovarian cancer (Manickam et al 2018), and arrhythmogenic right ventricular cardiomyopathy (Haggerty et al 2017) in an unselected health system research population.…”