Research Shows Genetic Variants Are More Common in People with Parkinson’s Than Originally Thought

New Parkinson’s Foundation research has found that genetic variants associated with Parkinson’s disease (PD) are more common than researchers previously believed.

Investigators in the Parkinson’s Foundation PD GENEration: Mapping the Future of Parkinson’s Disease study found that 13% of participants have a genetic form of PD — a significant observation compared to long-standing estimates. Results from the first 3.5 years of the study, which examined a broad North American cohort, was published in the peer-reviewed scientific journal Brain.

PD GENEration reached its goal of 15,000 participants this spring, ahead of schedule. Through the study, the Parkinson’s Foundation offers genetic testing for PD-related genes to any person with a confirmed PD diagnosis.

PD GENEration is the first of its kind to return results via live genetic counseling in English or Spanish. This enables participants and physicians to make more informed decisions about their care, including enrollment in gene-specific clinical trials.

Key PD GENEration findings published in Brain include:

• 7.7% of participants carried a GBA1 genetic mutation, 2.1% of participants carried a PRKN genetic mutation, and 2.4% of participants carried a LRRK2 genetic mutation. All participants were informed about their genetic status through the genetic counseling component of the program. 

• The positivity rate for a genetic variant is significantly higher for individuals with high risk. Those with young-onset PD, high-risk ancestry (such as Ashkenazi Jewish, Spanish Basque, or North African Berber), or a first-degree relative affected with the disease had an 18% positivity rate. The positivity rate for individuals without one of those risk factors was nearly 10%.

• Many of these participants may qualify for precision medicine trials, showing the feasibility and importance of broadly offering genetic testing.

“We did not anticipate the high positivity rate for genetic mutations, specifically the nearly 10% having a positive result even without any known genetic risk factors,” said Roy Alcalay, MD, MS, Tel Aviv Medical Center, Israel, and the Department of Neurology, Columbia University Irving Medical Center, and lead principal investigator for PD GENEration. “Further, the speed at which participants enrolled in PD GENEration is a testament to the interest of people with PD to obtain data on their genetic status. Taken together, the positivity rate and the high interest in getting genotyped will hopefully translate to increased participation in observational studies and clinical trials toward therapies targeting these genes, simplifying precision medicine clinical trials in PD.”

Announcing the Next Phase

PD GENEration is moving into its next phase with support from the Global Parkinson's Genetics Program (GP2), a program of the Aligning Science Across Parkinson's (ASAP) initiative. ASAP's funding allows the Parkinson’s Foundation to accelerate the study’s impact by focusing on those who have been historically underrepresented in research.

Through wide-scale recruitment, the study is reaching a larger and more diverse community in the U.S., Canada and Latin America. The Parkinson’s Foundation aims to enroll an additional 8,000 participants, including 2,400 in Latin America, during the next phase of the study.

“PD GENEration is designed to be inclusive and accessible to all populations, with the goal of improving clinical outcomes for everyone. We are proud that the data we have collected through PD GENEration reflects the largest and most diverse North American cohort ever tested – and even though we reached our initial recruitment goal of 15,000 this spring, bigger things are on the horizon,” said James Beck, PhD, Parkinson’s Foundation chief scientific officer.

Read the full press release

Learn more and enroll in PD GENEration.