Preliminary results from the PD GENEration: Mapping the Future of Parkinson’s Disease pilot study demonstrate the feasibility to conduct comprehensive genetic testing and genetic counseling for the larger Parkinson’s disease (PD) community, as well as the identification of rare genetic mutation carriers linked to PD.

PD GENEration, launched in 2019, is a national initiative that offers free genetic testing of clinically relevant Parkinson’s-related genes and free genetic counseling to help participants better understand their results, according to the Parkinson’s Foundation, in a media release.

“These interim findings represent the cornerstone in our success to lay the foundation for precision medicine in Parkinson’s disease. By better understanding the genetic implications for people with PD, scientists will be able to move research and treatments forward towards a cure.” 

— James Beck, PhD, Chief Scientific Officer of the Parkinson’s Foundation

Among the 291 people who have been tested so far, 52 tested positive with a genetic mutation that is linked to PD. This amounts to approximately 17% of all PD GENEration participants.

This percentage is greater than the expected estimate reported in the scientific literature of 5% to 10% of people with PD who have a clear genetic connection to the disease. PD GENEration researchers theorize that as more people with PD get genetically tested, the rate of detection may rise further. 

Additionally, genetic test results have identified extremely rare genetic mutations linked to PD. Some study participants carry multiple mutations, meaning one person can carry two or more different genetic mutations associated with PD. These findings will significantly contribute to the biological understanding of the disease, helping researchers assess the impact of each mutation and which ones are more influential towards causing the disease, the release explains.

“This study is critical for the entire PD community. PD GENEration participants can now arm themselves with more information about their specific diagnosis while helping scientists advance PD research. We will continue to expand the PD GENEration study to better serve the PD community while moving research forward.”

— John L. Lehr, President and Chief Executive Officer of the Parkinson’s Foundation

The PD GENEration study will nationally expand to more testing sites with the goal of enrolling 15,000 participants in late 2020. The Foundation had anticipated 600 participants during the pilot period, however due to the pandemic, testing was temporarily suspended.

In response to the ongoing pandemic, the Parkinson’s Foundation is designing a telemedicine-based approach, where participants will soon be able to enroll in the study using an at-home genetic testing kit and complete virtual genetic counseling in English or Spanish.

[Source(s): Parkinson’s Foundation, PR Newswire]

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