PD GENEration Expands, Includes increased Genetic Testing in Underserved Communities

Roy Alcalay, MD, MS

After starting it as a first-of-its-kind nationwide initiative in 2019, the Parkinson’s Foundation has announced the expansion of its PD GENEration: Mapping the Future of Parkinson Disease program, which offers no-cost genetic testing for Parkinson-related genes and genetic counseling for participants to better understand their results. The program now includes 23 actively enrolling participant sites and an effort to expand the reach of new testing sites into historically excluded communities.¹

The study has currently enrolled 23% of its 15,000-participant goal, with participants enrolled from all 50 US states, Puerto Rico, and the Dominican Republic. The program seeks to help those with Parkinson disease (PD), with the results potentially identifying those who could be candidates for clinical trials. These tests typically are not covered by health insurance, which may lead to a lack of understanding of the presence of possible mutations in genes relevant to the disease, such as LRRK2 or GBA.

"For nearly two decades, PD genetic research boomed, but testing was often done in research rather than clinical settings, and results were not shared with participants,” principal investigator Roy Alcalay, MD, MS, associate professor of neurology, Columbia University, said in a statement.¹ "In contrast, in PD GENEration, we aim to make testing accessible to all who live with PD, irrespective of their geographic location, primary language or any other barriers which would have previously excluded them from participating in research."

As part of their commitment to reach more underserved communities, the organization partnered with Morehouse School of Medicine to allow more access to Black and African-American persons in Atlanta, Georgia. Additionally, the study continues to cater to those with Hispanic and Latino backgrounds, offering genetic testing and counseling in English and Spanish.

"Increasing access to PD GENEration helps ensure that anyone living with PD can participate and have easy access to their genetic data," Chantale Branson, MD, assistant professor of neurology, Morehouse School of Medicine, said in a statement.¹ "We want to encourage community members to take part in the study while letting them know that their experiences are impacting the advancement of research and development of targeted therapies for the entire Parkinson's community."

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In July 2020, the Parkinson’s Foundation announced preliminary results from the study, first noting the recruitment for the study outpaced enrollment projections. Of the 291 people who had been tested, 52 received positive results of a genetic mutation linked to PD, accounting for approximately 17% of all participants at the time. These findings were higher than previously reported literature, which reported that only 5% to 10% of PD cases are genetically linked.²

Investigators also found rare genetic mutations linked to PD, including some participants who had more 2 or more different genetically associated mutations. These findings may have a more significant impact on understanding the biology of the disease, and the individual impact each mutation has towards causing the disease. At the time, the Foundation had anticipated 600 participants for the pilot period, but due to the COVID-19 pandemic, testing was temporarily suspended.

Formed within the National Institutes of Health-funded Clinical Genome Resource, the organization also created the Parkinson’s Disease Gene Curation Expert Panel (GCEP), the first genetics working group focused on neurodegenerative diseases. It has convened over 50 of the world’s leading researchers, geneticist, neurologists, and genetic counselors to interpret the data observed in PD GENEration.¹

After being granted Joint Accreditation for Interprofessional Continuing Education, the Foundation further announced their latest free course, Genetic Counseling for Parkinson’s Disease, in March 2022. This initiative is just the latest aimed at increasing awareness of the importance of genetic testing and counseling and coincides with PD GENEration.

James Beck, PhD, senior vice president and chief scientific officer of the organization, told NeurologyLive^® at the time, "what we wanted to do is create a series of courses to help better familiarize clinicians, neurologists, physician assistants, and others, [about] what it means to offer genetic counseling for people with PD—what are some of the unique aspects of Parkinson's disease when it comes to genetics, compared to other diseases? So, we created this about an hour and a half course that offers clinicians an opportunity to go through the basics of Parkinson's disease itself, the genetics associated with it, how to select different genetic test coverage, and then how to interpret the results that come through."

Watch part of our conversation with Beck from March, as he provided progress updates on PD GENEration and how they may be used to improve the understanding of the disease.

REFERENCES
1. Parkinson’s Foundation announces major expansion of PD GENEration study, increasing access to genetic testing and counseling across the US. News release. Parkinson’s Foundation. May 3, 2022. Accessed May 4, 2022. https://www.prnewswire.com/news-releases/parkinsons-foundation-announces-major-expansion-of-pd-generation-study-increasing-access-to-genetic-testing-and-counseling-across-the-us-301538402.html
2. Parkinson’s Foundation announces results of PD GENEration pilot study. News release. Parkinson’s Foundation. July 7, 2020. Accessed May 4, 2022. https://www.prnewswire.com/news-releases/parkinsons-foundation-announces-results-of-pd-generation-pilot-study-301088602.html