PD GENEration: free genetic testing

The research record

This is the project's file for this landmark, as written and checked. Sources are listed at the end; anything not yet confirmed is marked "Not yet verified".

Who

The Parkinson's Foundation (sponsor), with the Parkinson Study Group (landmark 277), Indiana University, Fulgent Genetics (testing laboratory) and Navitas Clinical Research. Founding sponsors were Biogen and Sanofi, with continued support from ASAP and GP2 (Parkinson's Foundation page). First author of the main paper: L. Cook; authors include T. Foroud, K. Marder, N. Mencacci and M. Nance.

What happened

Many people with Parkinson's are never offered a gene test, so gene-targeted trials struggle to find carriers. PD GENEration (NCT04057794; second registration NCT04994015) offers testing at no cost, with counselling, at clinics or at home by self-enrolment. It tests seven genes formally judged causal: GBA1 (landmark 16), LRRK2 (landmark 7), PRKN, SNCA, PINK1, PARK7 and VPS35.

Pilot start: 15 August 2019 (13 US sites, 1,982 participants in the registry record). The main analysis (Brain, 2024) covered 10,510 people enrolled from September 2019 to June 2023 at more than 85 centres in the US, Canada and the Dominican Republic; 8,301 had results. Average age 67.4; 86% White, 9% Hispanic/Latino, 4% Black, 2% Asian.

• Reportable variants in 13% of everyone tested.
• 18% in people with a "high-risk" feature (onset under 50, Ashkenazi Jewish, Basque or North African Berber ancestry, or an affected parent, sibling or child).
• 9.1% in people with none of those features.
• By gene: GBA1 7.7%, LRRK2 2.4%, PRKN 2.1%, SNCA 0.1%, PINK1/PARK7/VPS35 together 0.2%.

Why it moved us toward a cure

Gene-targeted drugs, such as LRRK2 inhibitors (landmark 159) and GBA1 therapies (landmark 69), can only be tested in carriers. A 9% hit rate in people without family clues argues that testing everyone is the way to find them. The result builds on the discovery of GBA1 as a risk gene (landmark 16) and LRRK2 (landmark 7).

Outcome

Open. The study is ongoing. The Foundation's page reports "35,000+ enrolled" (undated), and the second registry record (NCT04994015, start 20 Dec 2020) is recruiting with an estimated 35,382 participants (status verified September 2026), far above the paper's 10,510. Whether testing has raised enrolment in gene-targeted trials: not yet shown.

Sources

• Cook et al., Brain 2024, DOI 10.1093/brain/awae142, PMID 39074992
• ClinicalTrials.gov NCT04057794 · NCT04994015
• Parkinson's Foundation PD GENEration fact sheet (free testing; 35,000+ enrolled)
• Not yet verified: the date of the 35,000 figure; effect on trial enrolment. Registry record NCT04057794 is listed as "Unknown" status (last verified July 2023), start 15 Aug 2019, 1,982 participants. One commentary on the paper; no correction found.