The PD GENEration study, backed by the Parkinson’s Foundation, achieved its target of 15,000 participants ahead of schedule and found that 13% of participants have a genetic form of Parkinson’s disease (PD). This finding is significant compared to previous estimates.
The results, published in the journal Brain, cover the first 3.5 years of the study, which involved a diverse North American cohort. The study offers genetic testing for Parkinson ‘s-related genes and is the first of its kind to return results on such a large scale with live genetic counseling in both English and Spanish, enabling better-informed decisions for care and potential enrollment in gene-specific clinical trials.
Key findings from the study reveal that 7.7% of participants carried the GBA1 genetic mutation, 2.1% carried the PRKN mutation, and 2.4% carried the LRRK2 mutation. Participants were informed about their genetic status through the program’s genetic counseling component.
The study also found that individuals with high-risk factors such as early-onset PD, certain ancestries, or a first-degree relative with the disease had an 18% positivity rate for genetic variants, compared to nearly 10% for those without these risk factors.
These results underscore the importance and feasibility of offering genetic testing broadly, as many participants may qualify for precision medicine trials.
The high positivity rate for genetic mutations, especially the nearly 10% among individuals without known risk factors, was unexpected. Lead principal investigator Roy Alcalay noted that the quick enrollment in PD GENEration demonstrates the strong interest among people with PD to learn about their genetic status.
This enthusiasm is expected to lead to increased participation in observational studies and clinical trials targeting these genes, thereby facilitating precision medicine clinical trials in PD.
Lola Cook, a genetic counselor and first author of the Brain article, emphasized that PD GENEration stands at the forefront of precision medicine due to its inclusion of genetic counseling in the study.
The strong interest in understanding PD’s genetics, both generally and individually, reflects the collective effort to move towards better treatments and a cure. The study’s enrollment numbers and survey results highlight this commitment among the PD community.
PD GENEration is entering its next phase with support from the Global Parkinson’s Genetics Program (GP2) and the Aligning Science Across Parkinson’s (ASAP) initiative, focusing on historically underrepresented populations.
The Parkinson’s Foundation aims to enroll an additional 8,000 participants, including 2,400 in Latin America, during this phase. The goal is to enhance clinical outcomes for everyone by creating the largest and most diverse North American cohort ever tested.
The partnership with ASAP and GP2 will help reach more people, increasing the diversity of participants and potentially revealing new biological insights into the disease that could lead to new treatments.
