PD GENEration: Creating the Largest PD Genetics Registry Study in North America
There is something special about walking into an auditorium filled with people who are all there for the same reason: to better the lives of those living with Parkinson’s disease (PD). There is something awe inspiring about looking at the row of panelists about to give presentations on their cutting-edge work and seeing all women. There is something surreal about the moment when your name is called, and you come to reality that you have been given the opportunity of a lifetime to present your team’s work at an international conference. It was a moment unlike any other.
I had the opportunity to present the Parkinson’s Foundation’s PD GENEration study at the 6th World Parkinson Congress in Barcelona, Spain. WPC is centered on bringing together thousands of people across the global PD community to create a forum to accelerate progress towards a cure. This forum highlights the latest advancements in research and care for PD while identifying important gaps and unmet needs for this community.
One important take away, from the several days’ worth of seminars and poster sessions, was that genetics serves as a key in understanding biological pathways in PD and can help create better treatments by targeting the underlying causes of PD. However, genetic testing is not a part of standard of care, at least not in the US, leading to most people living with PD (PWP) not knowing their genetic status, thus slowing the acceleration of clinical research and drug discovery and development in PD. This unmet need is the reason the Parkinson's Foundation, in collaboration with the Parkinson Study Group (PSG), started PD GENEration.
PD GENEration is a clinical research study that offers genetic testing and genetic counseling to PWP. Comprehensive CLIA and CAP certified genetic testing is performed for seven clinically actionable PD genes (GBA1, LRRK2, SNCA, PRKN, PINK1, PARK7, VPS35). The study is operating in the US, Canada, Puerto Rico, and the Dominican Republic and has enrolled over 10,000 individuals from September 2019 to June 2023. The study is the first bi-lingual genetic study for PD, offering the process from start to finish entirely in Spanish or English, increasing the accessibility of the study.
One of PD GENEration’s main goals is to make this study as diverse and easily accessible as possible, regardless of proximity to a clinical research hub, race, ethnicity, socio-economic status etc. By expanding this study to be available at 45 in-person testing sites, 60 referring sites, and virtually via telemedicine, the study has provided the opportunity to those who may not have access to clinical research. With these mechanisms in place, the study enrolled PWP from all 50 states in the US, over 300 from the DR, over 100 from Canada, and 30 from PR, and has made this accessible to individuals who have never participated in research in the past (74% of cohort). PD GENEration has recruited over 1000 Hispanic participants and 225 Black and African American participants, with 80% and 74%, respectively, indicating PD GENEration as their first time participating in clinical research. We hope to continue our commitment in ensuring that diverse PWP have accessibility to this study.
PD GENEration sets itself apart because, unlike typical clinical research studies, the focus is on return of data and results, which has become a driving force for change in the way clinical trials involve PWP. The results from the 7-gene panel are shared de-identified with researchers who are working to understand the genetic basis of PD better on a global scale. PD GENEration is the leading North American cohort in the Global Parkinson’s Genetics Program (GP2), a global study that is analyzing over 150,000 PD genomes across North America, South America, Africa, Asia, Europe, and Australia. The data generated in PD GENEration functions as an avenue for deeper genetics research by providing the sheer volume and increased diversity that has not been seen in other US-based studies in the past. Through this study, 12.7% of participants have been found to have a genetic form of PD, with most of them testing positive for variants in GBA1, LRRK2, and PRKN. This value is similar to what is reported in other genetic studies and allows the study to act as a validation cohort for work that is being done by global researchers.
Overall, genetic testing and data sharing is not a new concept in PD research. What is unique is what happens beyond the testing. Through PD GENEration, PWP are given back their results in a clinical grade format by either their clinician or a genetic counseling from Indiana University. These genetic counseling visits are important because they not only give PWP the opportunity to learn of their PD genetic status, but allows for the opportunity to be informed about what the results mean for their family, how they can use the results to better their care, how they can accelerate enrollment into other clinical trials, and most importantly how they can use the knowledge how they see fit. The ability to have autonomy is key. This is PD GENEration’s differentiator.
The same way that the WPC auditorium was filled with PD community members with a shared mission, PD GENEration similarly convenes the community by forming a bridge that connects patient care and research. This commitment among PWP, care partners, clinicians, researchers, philanthropic organizations, and industry members, to be a part of PD GENEration represents a bright future for improved treatments and marks the precipice of a new era of PD research. The Parkinson’s Foundation understands the importance of PD GENEration in advancing research and helping inform care and we hope to continue this study for as long as there is a need from our PD community.
On behalf of the Parkinson’s Foundation and the PD GENEration study team, we express our heartfelt gratitude towards our 12,000+ participants for contributing to accelerate PD research. As one of the many women representing PD research, it has been a privilege to serve this incredible community and I am excited to see the progress that this community can achieve by working together.
Kamalini Ghosh Galvelis, MS; is the Director, Clinical Research at the Parkinson’s Foundation. Her abstract submitted to the WPC 2023 was selected for a Hot Topics talk. She presented her research in Barcelona.
PD GENEration is open for enrollment. If you are interested in learning more about this study, please visit www.parkinson.org/pdgeneration.
Ideas and opinions expressed in this post reflect that of the author solely. They do not reflect the opinions or positions of the World Parkinson Coalition®