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by xavier.grehant on 2026-05-24

GBA1 LRRK2 PRKN & PINK1 Trial design & recruitment Biomarkers & diagnosis

PD GENEration is a large international observational study (not a treatment trial) run by the Parkinson's Foundation in partnership with the Global Parkinson's Genetics Program (GP2). This preprint reports on its expansion beyond North America to Latin American countries (Colombia, Chile, Mexico, Peru, Ecuador) and Israel, and on a major upgrade from a 7-gene targeted test to whole-genome sequencing (WGS). WGS reads the entire genetic blueprint rather than just pre-selected gene sections, which means it can also flag unrelated but medically actionable findings — such as hereditary breast cancer genes (BRCA1/BRCA2) and a familial cholesterol condition. Every participant receives their results plus genetic counselling, at no cost.

The earlier North American phase (10,500+ participants, published 2024) found that 13% of people with Parkinson's carry a reportable genetic variant linked to the disease — meaningfully higher than the long-assumed 5–10%. The most common was a GBA1 variant (7.7%), followed by LRRK2 (2.4%) and PRKN (2.1%). Crucially, 9% of people with none of the classic warning signs — no early onset, no family history, no high-risk ancestry — still carried a variant. This international paper extends those findings across more diverse populations where variant frequencies differ, providing the first large-scale genetic picture of Parkinson's across Latin American and Middle Eastern communities. The study has now enrolled more than 20,000 participants.

For someone living with Parkinson's today, the most actionable implication is that knowing your genetic status is no longer just for those with a strong family history or early onset — the data increasingly support offering testing universally. A positive result (especially GBA1 or LRRK2) does not change current standard medication but does open doors to precision-medicine clinical trials targeted at those specific gene variants, and trials for both are actively enrolling. This is an observational registry study — it describes genetics in the population, it does not test a treatment — so it does not change day-to-day clinical care directly. Asking your neurologist about genetic testing remains the practical next step; in many countries PD GENEration offers it free of charge.

What this article adds

GBA1
The international expansion of PD GENEration — now including Latin American and Israeli cohorts alongside North America — confirms GBA1 as the most common genetic contributor to Parkinson's across diverse populations, found in approximately 7.7% of participants in the North American phase. Population-specific variant frequencies differ across ancestries, underscoring the value of broad, international testing rather than restricting testing to high-risk ethnic groups.
LRRK2
PD GENEration's 20,000+ person international cohort, now including Latin American countries and Israel, provides the largest cross-ancestry picture of LRRK2 prevalence in people already diagnosed with Parkinson's. LRRK2 variants were identified in approximately 2.4% of participants in the North American phase; the international data help clarify how rates shift across populations where certain LRRK2 variants are more or less common.
PRKN & PINK1
PD GENEration's international dataset — including younger-onset participants enrolled across Latin America — adds diversity to PRKN variant frequency estimates, which were approximately 2.1% in the North American cohort. PRKN is a recessive gene particularly associated with early-onset disease, making it especially relevant for Latin American sites enrolling a younger participant profile.
Trial design & recruitment
PD GENEration is explicitly designed as a recruitment pipeline for genetics-targeted precision-medicine trials: participants found to carry GBA1 or LRRK2 variants are informed of eligible trials, and the 20,000+ participant registry with whole-genome sequencing is being made publicly available through GP2 to accelerate trial design. The transition to WGS also enables identification of a 21-gene expanded PD panel alongside secondary findings (BRCA1/2, Lynch syndrome, familial hypercholesterolemia genes), broadening the return-of-results model used in trial recruitment.
Biomarkers & diagnosis
This large observational study demonstrates that 9% of people with Parkinson's who have none of the traditional high-risk flags (early onset, affected first-degree relative, high-risk ancestry) still carry a disease-linked genetic variant, directly challenging the clinical practice of restricting genetic testing to high-risk subgroups. The move to whole-genome sequencing further expands what a single diagnostic test can reveal, including secondary health findings unrelated to Parkinson's.

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