Expanding Access to Whole Genome Sequencing in Parkinson Research: James Beck, PhD

WATCH TIME: 4 minutes

“A key question we always get from [patients] with Parkinson is: if they don’t have a genetic form of Parkinson from a panel, do I still have Parkinson? And the answer is yes—you just don’t have a genetic form that we know of as of yet.”

The PD GENEration study, led by the Parkinson’s Foundation in collaboration with the Global Parkinson’s Genetics Program (GP2), now provides whole genome sequencing (WGS) and genetic counseling to patients with Parkinson disease (PD) across more than 8 countries in the Americas and Israel. In the study, genetic testing includes a panel of 7 core genes associated with PD, along with an additional 21 genes potentially linked to parkinsonisms. To support international expansion, the study adapted counseling materials for use across regions, tailoring them to local languages, cultural contexts, and healthcare infrastructure.¹

Through partnerships with organizations like LARGE-PD in Latin America and research sites in Canada and Israel, the program has used a decentralized model and “train the trainer” approach to scale its efforts globally. As of October 2024, over 1800 participants have undergone WGS, contributing to a larger cohort of more than 18,000 patients with PD enrolled since 2019. The current positivity rate for known PD-related genetic variants was reported as 12.2%, with the most common variants observed in GBA1, LRRK2, and PRKN. All data will be made publicly available through the AMP-PD platform to support future research and precision medicine in PD.

These findings were presented as a poster at the 2025 American Academy of Neurology (AAN) Annual Meeting, held April 5-9, in San Diego, California, by lead author James Beck, PhD, chief scientific officer of the Parkinson’s Foundation. At the meeting, Beck sat down with NeurologyLive^® to highlight the advancements and global expansion of the PD GENEration study. In the interview, he explained the shift to WGS and emphasized the importance of cultural and regional adaptation—particularly in Spanish-speaking regions—and the need to train clinicians in genetic counseling. Furthermore, he noted that these efforts aim to ensure more inclusive and culturally relevant delivery of genetic information to individuals with PD.

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REFERENCES
1. Beck J, Galvelis KG, Dini M, et al. Implementing Whole Gene Sequencing and Genetic Counseling Internationally for People with Parkinson’s Disease: The PD GENEration Experience. Presented at: 2025 AAN Annual Meeting; April 5-9; San Diego, CA. P3 - Poster Session 3. Abstract 5-007.

Editor’s Note: Beck has disclosed that he has received personal compensation for serving as an employee of Parkinson's Foundation and that the institution of Beck has received research support from NIH, MJFF.