PD GENE participants as of January 2025

PD GENEration: Mapping the Future of Parkinson’s Disease is a global research study that provides genetic testing and genetic counseling at no cost for people diagnosed with Parkinson’s disease (PD).

Genetic results from people with PD tested through PD GENEration show that approximately 13% of people with Parkinson’s have a genetic variant (a change in their DNA) that contributes to their disease. These variants are found in multiple genes known to play a role in Parkinson’s.

Participating in PD GENEration empowers you and your care team with your genetic data. Further, the genetic data contributes to research to better understand how those with genetic forms of PD experience symptoms and respond to treatment. This information helps scientists and medical professionals develop improved treatments and personalized medicine strategies that treat PD.

>20,000

enrolled globally in PD GENEration

~13%

genetic positivity in PD risk genes

More than 20,000 people with PD have enrolled in the PD GENEration study, including participants from the U.S. and Canada, Chile, Colombia, the Dominican Republic, Ecuador, Israel, Mexico and Peru.

We are committed to expanding to new countries and aim to increase the racial diversity of study participants. This is crucial for improvements in the understanding and treatment of PD across the globe.

PD GENE Race & Ethnicity as of January 2025

What genes does PD GENEration test?

PD GENEration uses a comprehensive genetic test to detect changes (known as variants) in genes associated with Parkinson’s. For an overview of the PD GENEration testing panel, watch this informational video.

The PD GENEration test identifies genetic changes in seven Parkinson’s-related genes: GBALRRK2, PRKN, SNCA, PINK1, PARK7 and VPS35. In addition — if the person with PD chooses — the test can report genetic changes in other PD-related genes and certain non-PD related genes that are related to diseases that can be prevented or treated, called the CDC-10, Tier 1 genes.

Primary Parkinson’s Disease Genes

PD-Related Secondary Findings Genes

PD GENEration participants can choose to receive results that include DNA sequencing and variant assessment of additional genes that have been associated with PD or other Parkinson’s-related diseases beyond the seven genes listed above.

Secondary findings genes include genes that are either associated with rare types of PD or are genes that we are only beginning to find evidence of an association with Parkinson’s. We are still learning more about these genes through research.

Non-PD Related CDC-10 Tier 1 Genes

PD GENEration participants can also choose to receive results from additional genes called the Centers for Disease Control and Prevention (CDC)-10 Tier 1 genes. This genetic testing is completed only if the PD GENEration participant agrees to it.

These 10 genes tested are not related to Parkinson’s disease but are known to cause other diseases that can be prevented or treated if the person with the variant knows they have a genetic risk.

Genes included in this test include:

  • Two genes, BRCA1 and BRCA2, associated with hereditary breast and ovarian cancer syndrome
  • Five genes, MLH1, MSH2, MSH6, PMS2 and EPCAM, associated with Lynch syndrome (or hereditary nonpolyposis colorectal cancer syndrome)
  • Three genes, LDLR, APOB and PCSK9, associated familial hypercholesterolemia (hereditary high cholesterol)

Learn More

  • Visit the CDC webpage to learn more about these 10 genes and how they were selected.

PD GENEration Results

PD GENEration results have found that approximately 13% of people with PD carry a genetic variant in one of the seven primary PD-related genes that is contributing to their Parkinson’s.

PD GENE genetics variants as of January 2025

In 2024, the scientists and clinicians behind PD GENEration published the interim results of the study in a peer-reviewed journal, called Brain. These results not only updated the estimate of people who live with a genetic form of PD but also show the willingness of the PD community to learn their genetic risk of disease.

Enroll in Our Genetics Study

PD GENEration is a national initiative that offers genetic testing for Parkinson's-related genes and genetic counseling at no cost for people with Parkinson’s.

Understanding Your PD GENEration Test Results

PD GENEration genetic test results are returned to participants through a genetic counseling appointment. If someone tests positive for a genetic variant related to Parkinson’s, the genetic counselor will discuss and interpret the genetic variant that was found, the gene it is in and answer any questions while providing emotional support.

If someone tests positive for a variant in a PD-related gene, their children may have a higher chance of developing PD if they inherit the genetic variant. However, there is still no guarantee they will develop Parkinson’s. Many people with these gene variants do not get PD.

The genetic counsellor can help navigate if and how someone might want to share genetic testing results with family members and the impact they could have.

The PD GENEration test is also not a substitute for a PD diagnosis. In other words, if someone tests negative with the genetic test and is not found to have a PD gene variant, it does not mean that they do not have Parkinson’s.

Most people with PD that enroll in PD GENEration will test negative for a PD gene variant. A person who tests negative may have experienced environmental factors that increased their risk of PD, or they may have a genetic variant in a PD-related gene that has not yet been discovered by researchers.

Parkinson's Disease Gene and Variant Curation Expert Panels

The NIH appointed the Parkinson’s Foundation to convene international multidisciplinary expert panels of the world’s most esteemed molecular geneticists, clinicians with a general research focus and PD-specific genetic counselors.

These groups of experts are known as the ClinGen PD Gene Curation Expert Panel (GCEP) and Variant Curation Expert Panel (VCEP). They aim to support the expansion of high-quality and expert-driven variant curation for PD-relevant genes such as LRRK2, GBA, SNCA, PRKN, PINK1, PARK7 and VPS35

Read a published paper on behalf of PD GCEP: The Commercial Genetic Testing Landscape for Parkinson’s Disease.

Back to Top