PD GENEration: An International Parkinson's Disease Genetic Research Study.
Level 4 - case-series / case-control
Uncontrolled observational cohort and implementation study.
PubMed 42238438 · doi:10.64898/2026.05.20.26353696
What was done
PD GENEration evaluated the implementation and scaling of an international, no-cost clinical genetic testing and counseling program for individuals with Parkinson's disease (PwP) across North, Central, and South America, the Caribbean, and Israel. Participants enrolled either in-person or virtually. Blood samples underwent whole-genome sequencing in a CAP/CLIA-certified laboratory, assessing a primary panel of seven Parkinson's-associated genes with options for additional gene panels. Results were disclosed during formal genetic counseling sessions, and genomic data were curated for open sharing.
What was found
Between its launch in 2019 and March 31, 2026, the initiative enrolled over 32,000 participants across 10 countries. The abstract describes program expansion, operational workflows, and data-sharing integration, but reports no specific diagnostic yield percentages, variant frequencies, clinical outcomes, or statistical comparisons.
Why it matters
This study demonstrates the feasibility of scaling large-scale, international genetic testing and counseling directly to patients, providing an operational blueprint and open-access genomic resource to accelerate precision medicine trials in Parkinson's disease.
Limits
The abstract reports descriptive operational metrics without providing quantitative genetic yield data, variant breakdown, or clinical outcome measurements. As an uncontrolled, non-peer-reviewed preprint study, it cannot evaluate comparative diagnostic efficacy or long-term clinical utility versus standard care pathways.
Cited by
- supports In the Parkinson's Foundation PD GENEration study of 8,000 individuals with Parkinson's published in Brain, 13% carried a known genetic cause or risk factor, meaning 87% had no known genetic cause or risk factor.