How Our Genetics Study Evolved in One Year: More Access & New Parkinson’s Insights

In 2024, the Parkinson’s Foundation expanded its global genetics study, PD GENEration: Mapping the Future of Parkinson’s Disease, both geographically and biologically. The study team’s recruitment efforts lead to an increase in the diversity of participants. Changes to sample collection and genetic sequencing allowed for the inclusion of more than 30 new genetic markers of interest. The results from three of these scope-expanding initiatives were presented as posters at international Parkinson’s and medical conferences. Below we highlight each poster.  

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1. Bringing PD Genetic Testing to Latin America with LARGE-PD 

For large-scale studies that provide genetic sequencing and counseling like PD GENEration, participant diversity is essential. Having genetic data from people across the world creates a strong foundation for impactful research breakthroughs. With that in mind, the Parkinson’s Foundation partnered with the Latin America Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD) to expand the PD GENEration study to new countries. In just a few months, we have provided valuable genetic testing and counseling to new, underserved populations, broadening our understanding of the disease.  Six LARGE-PD sites offer the PD GENEration study today. The six selected sites are in Columbia, Chile, Peru, Mexico, El Salvador and the Dominican Republic, supporting a wide range of Latin American communities. Every PD GENEratrion site offers high-quality testing and genetic counseling. 

These sites enrolled 446 new participants and trained 16 new genetic counselors in five months and have maintained their momentum into the new year. This LARGE-PD collaboration and these six new Latin American sites support PD GENEration’s goals of accelerating clinical trials in PD, improving PD care and research and empowering people with PD and their care teams. 

2. Building Trusted Connections with the Hawaii PD Community 

PD GENEration recruitment in Hawaiʻi began in 2022, but participation was limited to at-home testing with only a few people signing up each month. With help from the Hawaiʻi Parkinson Association (HPA), a local partner since 2018, the Parkinson’s Foundation worked with The Queen’s Medical Center in Honolulu as Hawaii’s first PD GENEration site in 2023, which is also a Parkinson’s Foundation Comprehensive Care Center. This location immediately accelerated participation with an increased average of nearly 20 new people joining the study every month.  

As sign-ups increased, we learned new insights into the Hawaii PD community. In particular their historical mistrust of the medical field and hesitance toward sharing personal health information due to western colonization. Leading with empathy and understanding of this historical trauma, the PD GENEration outreach team worked closely with local organizers to drive an outreach campaign in hopes of breaking down barriers to inspire joining PD GENEration.  

In October 2024, PD GENEration team members met with Rock Steady Boxing members in at the HPA Resource Center, two pillars of the Honolulu PD community. These introductions provided information about the PD GENEration study, including its history, rationale and impact, as well invitations to the upcoming Parkinson’s Foundation Research and Care Event. At this event, attendees learned about what's new in research, how research shapes treatments, and care tips for managing PD symptoms. 

These outreach efforts helped: 

• 30 new people with PD join PD GENEration, over half of whom were from diverse (non-white) populations and 90% had never participated in PD research before.  

• This amounted to a nearly 13% jump in total Hawaii resident enrollment.  

As this momentum continues, PD GENEration and the entire PD research field will gain valuable genetic information from this unique community while the Hawaii participants gain key insights into their diagnoses and personal health. 

3. Diving Deeper into Genetic Testing with the Tasso+ Device 

Accessibility is a key for the PD GENEration study. The ability for people with PD to participate either in-person at a medical or through an at-home mail-in test has ensured that anyone interested can participate. This accessibility was top-of-mind when the study entered its next phase in March 2024, expanding its genetic testing panel from the nine major PD-related genetic mutations to 40 targets, adding 21 genes with a potential PD connection.  

Participants can now request testing for 10 CDC Tier 1 genes related to other diseases like breast cancer, ovarian cancer, Lynch syndrome, and familial hypercholesterolemia (high cholesterol).

To investigate this wider range of genes in a single test, the format would have to change. While the amount of quality DNA obtained from a cheek swab is sufficient when testing for just a few PD gene mutations, a blood sample is needed for collecting enough testable DNA for the new gene panel. This change is simple for study sites, but the PD GENEration team worked to find a new way to offer at-home testing for the new panel.  

In February 2024, PD GENEration partnered with the company Tasso to produce the study's new blood sample collection kit, called Tasso+. Learn more in this video. In just a few months, the new Tasso+ kit was fully integrated into at-home testing. As of November 2024, more than 1,000 new PD GENEration participants have enrolled using the Tasso+ device with a 97.1% kit success rate. 

With the Tasso+ kit, PD GENEration can now collect and provide even more valuable genetic information to PD researchers, potentially unlocking more clues behind disease progression that can lead to improvements in treatment and care for people with Parkinson’s everywhere. 

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Learn more about PD GENEration and enroll today.