Objective: To investigate whether participants in the PD GENEration study (NCT04994015) perceived personal benefit from receiving genetic testing for Parkinson’s disease (PD), whether being tested leads to medical and/or life changes, and if genetic testing encourages participation in additional research studies, such as gene-specific clinical trials.

Background: Genetic testing for PD has been infrequently performed in clinical settings. Though providers may believe it has limited clinical utility, people with PD (PwP) might perceive significant personal benefits from genetic testing. These non-medical benefits of genetic testing, termed personal utility, are gaining interest from researchers and clinicians. Therefore, we sought to understand the value of genetic testing from the viewpoint of PwP.

Method: PD GENEration is an ongoing, multi-center, observational study, offering participants complimentary genetic testing for seven genes linked to Parkinson’s disease with post-test genetic counseling. Genomic data and samples are shared with the research community.  After genetic testing and counseling, 972/1,622 participants (60% response rate) who enrolled from September 2019 to November 2021 completed a survey. This survey assessed the significant aspects of personal utility, medical or life changes associated with testing, as well as their interest and participation in further research studies.

Results: Most participants found their genetic test results personally useful in various ways, including satisfying their curiosity (81%), feeling good about helping the medical community (80%), and having information to share with family (77%). There were no significant differences in the frequency of personal utility items that participants endorsed as useful between participants with positive versus negative results (all p values > .0002). Forty-five percent of participants expressed interest in participating in additional research studies, and 16% of participants enrolled.

Conclusion: Our results suggest that most participants find genetic testing for Parkinson’s disease personally useful in multiple ways regardless of results. Many participants are interested in enrolling in additional research and may benefit from more support and resources for guidance. Despite potential barriers to enrollment, 16% of participants enrolled in another study.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/participant-reported-personal-utility-of-genetic-testing-for-parkinsons-disease-and-interest-in-clinical-trial-participation/