Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices

Lucas Pereira; Cyrine-Eliana Haidar; Susanne B Haga; Anna G Cisler; April Hall; Sanjay K Shukla; Scott J Hebbring; Emili J W Leary

doi:10.3389/fphar.2024.1355412

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices

Front Pharmacol. 2024 Feb 8:15:1355412. doi: 10.3389/fphar.2024.1355412. eCollection 2024.

Authors

Lucas Pereira^{1

2}, Cyrine-Eliana Haidar³, Susanne B Haga⁴, Anna G Cisler⁵, April Hall^{2

6}, Sanjay K Shukla¹, Scott J Hebbring¹, Emili J W Leary¹

Affiliations

¹ Marshfield Clinic Research Institute, Center for Precision Medicine Research, Marshfield Clinic Health Systems, Marshfield, WI, United States.
² Division of Genetics and Metabolism, Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, United States.
³ Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, United States.
⁴ Program in Precision Medicine, Department of Medicine, School of Medicine, Duke University, Durham, NC, United States.
⁵ Medical Genetics, Marshfield Clinic Health Systems, Marshfield, WI, United States.
⁶ Center for Human Genomics and Precision Medicine, Wisconsin Institute for Medical Research, University of Wisconsin-Madison, Madison, WI, United States.

Abstract

Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing. Methods: An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices. Results: Forty-six completed surveys representing 43 clinical institutions offering pharmacogenomic testing were received. Thirty-two (74%) respondents obtain IC from patients with variability in elements incorporated. Results revealed that twenty-nine (67%) institutions discuss the benefits, description, and purpose of pharmacogenomic testing with patients. Less commonly discussed elements included methodology and accuracy of testing, and laboratory storage of samples. Discussion: IC practices varied widely among survey respondents. Most respondents desire the establishment of consensus IC recommendations from a trusted pharmacogenomics organization to help address these disparities.

Keywords: clinical implementation; genetic counseling; genetic testing; informed consent; pharmacogenetics; pharmacogenomics.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. Funding for this project was provided in part by UW ICTR, grant UL1TR002373, from the Clinical and Translational Science Award of the NCATS/NIH and philanthropic support of Marshfield Clinic Research Institute led by the Marshfield Clinic Health System Foundation through the Dr. James Weber Endowment in Human Genetics Research.