A study published in the medical journal Brain revealed a higher-than-expected prevalence of gene mutations in Parkinson's disease patients, suggesting that genetic testing should be offered more broadly to this population.
Researchers conducted genetic profiling on over 8,000 patients with Parkinson's disease from various racial and ethnic backgrounds. The study found that 13% of all participants had a genetic form of this progressive brain disorder.
The prevalence of genetic mutations was even higher (18%) in patients with known risk factors, including:
- Earlier age of disease onset
- Parkinson's disease in a first-degree relative
- Certain ancestries (e.g., Ashkenazi Jewish, Spanish Basque, or North African Berber)
Notably, more than 9% of patients without known risk factors also carried predisposing genetic mutations.
These findings have significant implications, particularly as new gene-specific drugs for Parkinson's disease enter the research pipeline. Previous studies, which were often limited to patients with known risk factors, had suggested that only 5% to 10% of Parkinson's disease cases were linked to genetic variants.
Currently, genetic testing is offered to only a small fraction of people with Parkinson's disease. James Beck, PhD, senior vice president and chief scientific officer of the Parkinson's Foundation (the study's sponsor), attributes this to several factors:
- Neurologists' discomfort with their knowledge of Parkinson's disease genetics
- Limited access to genetic counselors
- The historical lack of impact of genetic information on patient treatment
However, Beck notes that recent advances are bringing us "on the cusp of figuring out how to treat patients based on genetics."
Given the ongoing trials of gene-specific treatments and the potential impact of genetic results on disease prognosis and familial risk assessment, the research team concluded that clinical genetic testing should be offered to all individuals with Parkinson's disease.
For those interested in participating in genetic research, Beck mentioned that anyone with Parkinson's disease can enroll in the PDGENE study and receive free genetic testing through the Parkinson's Foundation.
