Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson’s disease (PD) and their clinicians. This will permit assessment of the impact of genetic data on clinical care for people with PD and may accelerate referral to clinical research. Secondary objectives include evaluating impact and feasibility of returning genetic results through clinician vs. genetic counselor and empowering those living with PD by providing further knowledge of their disease.

Background: Most people with Parkinson’s as well as their clinicians do not know if they carry genetic mutations linked to PD such as in LRRK2 and GBA1. The Parkinson’s Foundation PD GENEration Initiative: Mapping the Future of Parkinson’s Disease (PDGENE) is a five-year, multi-center study in the US that aims to offer CLIA-certified genetic testing of seven PD-related genes along with genetic counseling to people with PD via the Parkinson’s Foundation Center of Excellence (COE) and the Parkinson Study Group (PSG) networks.

Method: The study will target enrollment of up to 15,000 participants across 50 sites distinguished as a COE or a PSG site in the US. After consent, participants will undergo clinical assessments to characterize disease status and severity. DNA will be sequenced at the coding regions of GBA1, LRRK2, PRKN, PARK 7/DJ-1, PINK-1, SNCA, and VPS35, through a CLIA-certified genetic testing laboratory and banked for future research use. Results will be disclosed to the participants with pre- and post-test genetic counseling service through virtual or local site counseling. In a pilot study, a subset of participants will be randomized to receive genetic testing results from their movement disorders neurologist or a centralized genetic counselor. Follow-up at 3 and 12 months after baseline visit will assess satisfaction and impact among participants and clinicians. The primary endpoint is to determine the number of participants that receive genetic testing and subsequently are ready to enroll in gene-specific clinical trials.

Results: Recruitment will initially commence at six COE pilot sites within the US in 2019, expanding to fifty COE and PSG study sites in 2020-21.

Conclusion: The study will provide a large-scale patient registry that links clinical phenotype with genetic status for up to 15,000 people with PD in the US.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/impact-of-offering-genetic-testing-and-counseling-to-people-with-parkinsons-disease-in-a-clinical-setting/