Objective: To provide Clinical Laboratory Improvement Amendments (CLIA) genetic testing using whole genome sequencing and disclosure of 7 PD relevant genes and secondary health-related genetic findings through genetic counseling to people with PD (PWP) globally.

Background: The PD GENEration study, sponsored by the Parkinson’s Foundation in partnership with the Global Parkinson’s Genetics Program (GP2) (NCT04994015), is transitioning from CLIA testing of targeted exome to whole genome sequencing (WGS) and expanding to further include underrepresented populations in the Americas and Israel.

Method: This expansion involves collaboration with the Latin American Research consortium on the GEnetics of Parkinson’s Disease (LARGE-PD). To ensure wider accessibility, genetic counseling materials focused on WGS were developed in English and Spanish, empowering healthcare providers worldwide to deliver genetic results as part of standard of care.

Results: The expansion of PD GENEration aims to yield an additional 8,400 participants in 2024, resulting in an overall cohort of 23,000+ PWP with genomic characterization. All clinical and genomic sequencing data will be made publicly available through the GP2 program.

Conclusion: PD GENEration offers a flexible research study framework that can integrate globally, taking into consideration each country’s infrastructure, cultural differences, and genetic counseling training needs. A decentralized study model and “train the trainer” methods allows PD GENEration to expand beyond the parameters of traditional genetic testing and genetic counseling.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-pd-generation-study-to-increase-clinical-genetic-testing-and-counseling-using-whole-genome-sequencing-among-diverse-parkinsons-disease-pd-populations/