New Research Finds Higher Frequency of Genetic Variants In Parkinson’s Disease Patients Than Previously Believed

The PD GENEration study, funded by the Parkinson’s Foundation, simply exceeded its target of reaching up to 15,000 participants ahead of schedule this spring.

Investigators found that 13% of participants have a genetic form of Parkinson’s disease (PD), a noteworthy increase compared to earlier estimates. The first 3.5 years of this study, which included a diverse group from North America, were detailed in the peer-reviewed journal Brain.

Since 2019, the Parkinson’s Foundation has been conducting the PD GENEration study, which tests individuals with a confirmed PD diagnosis for genes linked to Parkinson’s disease.

This innovative study is the first to provide large-scale genetic results through live counseling sessions in both English and Spanish.

This empowers participants and physicians to make more informed choices about their treatment, including the option to participate in clinical trials targeting specific genes.

Take a look at some more findings or investigation made exclusively by PD GENEration study:

• The findings revealed that 7.7% of participants possessed a GBA1 mutation, 2.1% had a PRKN mutation, and 2.4% carried a LRRK2 mutation. Participants were informed of their genetic results through the program’s genetic counseling services.
• Individuals with higher risk factors show a significantly increased rate of genetic variants. Specifically, those with early-onset Parkinson’s disease, ancestry linked to higher risk groups (like Ashkenazi Jewish, Spanish Basque, or North African Berber), or a first-degree relative with the disease had an 18% positivity rate. In comparison, the positivity rate for those without these risk factors was just under 10%.

Roy Alcalay, MD, MS, who leads the PD GENEration study and is associated with Tel Aviv Medical Center and Columbia University Irving Medical Center, noted, “The unexpectedly high rate of positive results for genetic mutations was surprising, particularly the nearly 10% who had positive results despite lacking known genetic risk factors.”

“Furthermore, the quick uptake of participants in PD GENEration underscores a strong desire among those with Parkinson’s disease to gain insights into their genetic status. This notable level of interest, along with the substantial positivity rate, is expected to drive greater involvement in both observational studies and clinical trials aimed at therapies for these genetic variants, thus advancing precision medicine in Parkinson’s disease.”

“PD GENEration basically represents a significant advancement in precision medicine and personalized treatment, largely due to the Parkinson’s Foundation’s focus on including genetic counseling in studies that reveal genetic information,” noted Lola Cook, MS, CGC, from the Department of Medical and Molecular Genetics at Indiana University. Cook, who is the lead author of the Brain article and one of the six genetic counselors involved in the research, highlighted this important development.

In the upcoming phase of the study, the Parkinson’s Foundation intends to add 8,000 more participants, including 2,400 from Latin America.

“PD GENEration is accessible to diverse populations to enhance clinical outcomes for all. We are thrilled that our collected data now includes the largest and most varied North American cohort ever tested. Despite reaching our initial target of 15,000 participants this spring, we are looking forward to even more significant progress,” said James Beck, Ph.D., senior vice president and chief scientific officer of the Parkinson’s Foundation.

“Partnering with ASAP and GP2 greatly extends our reach and enhances the diversity of our participants. By examining shared genetic factors in Parkinson’s disease across diverse populations, we may uncover vital biological information that could lead to new therapeutic options.”

Citation: