The international study on genetic testing and counseling, PD GENEration, is currently at the halfway mark of its goal of 15,000 participants.
James Beck, PhD
News from the Parkinson’s Foundation, as PD GENEration: Mapping the Future of Parkinson’s Disease, it’s large-scale no cost genetic testing and counseling study, reached a significant recruitment milestone of 7500 participants.1 The international study aims to improve Parkinson Disease (PD) care by advancing the development of treatments through divisively testing for clinical relevant genes.
The study has currently enrolled 50% of its 15,000-participant goal, spanning across 36 sites, over 50 referral sites, and is expanding to Canada, while still offering at-home testing. Based on recruitment, investigators observed that 14% of participants displayed a genetic form of PD which is significant, compared with the long-standing estimate of 10%. In addition, the testing helps patients with PD and their clinicians to identify whether patients would qualify for certain clinical trials.
“We have worked really hard to begin to expand testing to a larger number of clinicians--we find that there's just tremendous interest in the PD community to understand their genetic status, and the PD GENEration study is really the way to do that,” James Beck, PhD, senior vice president and chief scientific officer of the organization, told NeurologyLive® in a previous interview.
The study has expanded its efforts by adding more testing sites and establishing more collaborations with clinicians in historically excluded communities, with 22% of participants coming from marginalized racial and ethnic groups. Genetic counseling is provided in both English and Spanish, extensively engaging in Hispanic and Latino communities, as approximately 11% of participants identify as Hispanic. Notably, investigators observed 17% of Hispanic patients have a genetic link to PD, being the highest rate of any ethnic group thus far.1
“We're hopeful that as we work to prepare the ground, so to speak, for helping people learn whether they have a genetic form of Parkinson's disease or not, that our partners in pharma are busily preparing trials to come forth where they will need to ask these individuals who knows they have a genetic form of Parkinson's disease to step forward and to participate in clinical trials,” Beck previously told. “That is really going to be the way with which we're able to change the course of this terrible disease, is by having people with Parkinson's willing to take that altruistic step, in order participate clinical trials to see whether any of these novel therapies that are being developed will actually be efficacious. If they are, then it will be game changing. I anticipate these precision medicine, gene-targeted therapies could have a tremendous impact in the PD space.”
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In May 2022, the study enrolled 23% of its 15,000-participant goal, with participants enrolled from all 50 US states, Puerto Rico, and the Dominican Republic.2 The program then included 23 actively enrolling participant sites and planned to expand the reach of new testing sites into historically excluded communities. 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.
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.3
Additionally, investigators also observed rare genetic mutations linked to PD, including some patients who had 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 because of the COVID-19 pandemic, testing was temporarily suspended.3
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.2
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.