Genetic variants associated with Parkinson’s disease (PD) are more common than researchers previously believed, new research has revealed.
Investigators in the Parkinson’s Foundation-backed PD GENEration study – which reached its goal of 15,000 participants ahead of schedule this spring – found that 13 per cent of participants have a genetic form of PD, which is 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, which tests for clinically relevant Parkinson’s-related genes, has been offered by the Parkinson’s Foundation since 2019 to any person with a confirmed PD diagnosis.
The study is the first of its kind to return results at scale 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.
Roy Alcalay, MD, MS, of Tel Aviv Medical Center, Israel, and the Department of Neurology, Columbia University Irving Medical Center, is lead principal investigator for PD GENEration.
The researcher said of the findings: “We did not anticipate the high positivity rate for genetic mutations, specifically the nearly 10 per cent having a positive result even without any known genetic risk factors.
“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.”
PD GENEration is continuing into its next phase with support from the Global Parkinson’s Genetics Programme (GP2), a programme 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.
Such enhanced wide-scale recruitment is reaching a larger and more diverse community in the United States, 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.
Lola Cook, MS, CGC, Department of Medical and Molecular Genetics at Indiana University, is first author of the Brain article and one of six genetic counselors involved in the study to date
The researcher said: “PD GENEration stands at the forefront of precision medicine and the potential for tailored treatments.
“In large part, this is because the Parkinson’s Foundation has recognised the importance of including genetic counseling in a research study that discloses genetic results.
“As we’ve seen from the study’s enrolment numbers and survey results, there is a strong interest among people with PD to push the research effort forward.
“This includes understanding the disease’s genetics, generally and individually. It’s the idea that we are all doing our part to move toward improved treatments and a cure.”
