James Beck, PhD, on Expanding Access to Whole Genome Sequencing in Parkinson Research
The chief scientific officer of the Parkinson’s Foundation discussed the foundation’s efforts to integrate whole genome sequencing into PD GENEration and expand access across diverse global populations.
This video originally appeared on our sister site, NeurologyLive®.
“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.”
Whole genome sequencing (WGS) and genetic counseling for patients with Parkinson disease (PD) is now provided across more than 8 countries in the Americas and Israel via the PD GENEration study, which is led by the Parkinson’s Foundation in collaboration with the Global Parkinson’s Genetics Program (GP2). Genetic testing in the study includes a panel of 7 core genes associated with PD, as well as a further 21 genes potentially linked to parkinsonisms. The study adapted counseling materials for use across regions in order to support expansion internationally, tailoring these to local languages, cultural contexts, and healthcare infrastructure.1
The program has used a decentralized model and “train the trainer” approach to scale its efforts globally by way of partnerships with organizations like LARGE-PD in Latin America and research sites in Canada and Israel. Over 1800 participants have undergone WGS since October 2024, contributing to a larger cohort of more than 18,000 patients with PD enrolled as of 2019. A 12.2% positivity rate for known PD-related genetic variants is currently reported. GBA1, LRRK2, and PRKN constitute the most common variants seen. Through the AMP-PD platform, all data will be made available publicly with the intent of supporting 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 CGTLive®'s sister site 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.
REFERENCE
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. 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.
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