PD GENEration: An International Parkinson's Disease Genetic Research Study

Area of Science:

• Genetics
• Neurology
• Clinical Research

Background:

• PD GENEration is an international, observational study offering no-cost genetic testing and counseling to people with Parkinson's disease (PwP).
• Sponsored by the Parkinson's Foundation and ASAP, it aims to advance Parkinson's disease (PD) research through genetic knowledge and data sharing.
• The study has enrolled over 32,000 PwP across North, Central, and South America, the Caribbean, and Israel since 2019.

Purpose of the Study:

• To empower people with Parkinson's disease (PwP) and their clinicians with genetic status information.
• To accelerate the recruitment of participants into precision medicine clinical trials for Parkinson's disease (PD).
• To advance PD research through the open sharing of genomic data.

Main Methods:

• Participants enroll in-person or virtually, providing informed consent and blood samples.
• Whole genome sequencing is performed at a CAP/CLIA-certified laboratory, with variants curated for seven primary PD-associated genes.
• Genetic results are disclosed during counseling visits, with options for further gene panel testing and open genomic data sharing.

Main Results:

• The PD GENEration study has successfully scaled to enroll over 32,000 people with Parkinson's disease (PwP) across 10 countries.
• The study has evolved to accommodate research needs and increase the scale of returning genetic test results.
• Genomic data is shared openly to facilitate discovery in Parkinson's disease (PD) research.

Conclusions:

• PD GENEration demonstrates a flexible framework for large-scale genetic testing, prioritizing equity and accessibility.
• Key accomplishments include significant participant enrollment and the successful return of genetic results.
• Lessons learned provide guidance for implementing similar large-scale clinical genetic testing studies in other disease areas.