Findings from PD GENEration will contribute to the biological understanding of the disease and help researchers assess the impact of each mutation.
James Beck, PhD
The Parkinson’s Foundation and Sanofi recently announced a collaborative research effort that will advance the availability of genetic testing and counseling for people with Parkinson disease (PD).1
Over the next 2 years, Sanofi will provide $1 million in research funding to support the PD GENEration: Mapping the Future of Parkinson’s Disease initiative, a first-of-its-kind national study that offers free genetic testing and counseling for people with PD. The initiative was first announced in July 2019, and includes a 4 step process: Attending an appointment at a Center of Excellence or Parkinson Study Group site, developing the results, meeting with a health care professional, and filling out a post-process survey.
"With an estimated 10% to 15% of people with Parkinson disease having a genetic form of the disease, people may have risk genes even when they have no apparent family history. Genetic testing is critical for advancing understanding of the biology behind Parkinson disease and increasing patient access to clinical trials targeting specific genetic mutations, with the hope of slowing disease progression," Erik Wallstroem, PhD, therapeutic area head, Neurology Development, Sanofi, said in a statement.
The study will focus on 7 main genes related to PD, including GBA, LRRK2, and SNCA. Findings from PD GENEration also will contribute to the biological understanding of the disease, helping researchers assess the impact of each mutation and which ones may cause the disease. Currently, genetic tests for PD are not covered by health insurance, nor is genetic counseling, which helps patients interpret test results and make sound decisions regarding their clinical care.
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“Because those barriers are still there, it’s still very difficult for a person with PD to go get genetic testing on their own," James Beck, PhD, chief scientific officer, Parkinson’s Foundation, told NeurologyLive. "In fact, the genetic testing that we offer as part of PD GENEration is next to impossible to get by an individual. They would have to go to 2 or 3 different providers in order to essentially get the same information that we’re able to provide.”
The PD GENEration pilot study identified individuals with extremely rare mutations linked to PD and found a higher number of people with a genetic form of PD than previously reported. Of the 291 people included in the study, 52 had a genetic mutation linked to PD.2 That amounts to 17% of all PD GENEration participants, which is greater than the ted estimate reported in previous scientific literature of 5% to 10% of people with PD who have a clear genetic connection to the disease, according to the Parkinson’s Foundation.
The initiative will help facilitate future clinical trials for patients with genetic PD. Instead of testing patients after they’ve been enrolled in clinical trials, this important clinical history will already be available. “As these clinical trials become available to individuals, they already have that answer. They can then proactively enroll in that trial and help speed up the process by which these drugs are developed, tested, and hopefully approved,” Beck added.