Expanding Access to Whole Genome Sequencing in Parkinson Research

James Beck, PhD

The PD GENEration study, which is led by the Parkinson’s Foundation in collaboration with the Global Parkinson’s Genetics Program (GP2), provides whole genome sequencing (WGS) and genetic counseling for patients with Parkinson disease (PD) across more than 8 countries in the Americas and Israel. In order to support expansion internationally, the study adapted counseling materials tailored to local languages, cultural contexts, and healthcare infrastructure.

At the 2025 American Academy of Neurology (AAN) Annual Meeting, held April 5-9, in San Diego, California, James Beck, PhD, chief scientific officer of the Parkinson’s Foundation, presented a poster related to the study. During the conference, CGTLive®'s sister site NeurologyLive^® sat down with Beck to discuss the importance of regional and cultural adaptation and the need to train clinicians in genetic counseling.

NeurologyLive: Can you give an overview of the poster you presented at AAN this year?

James Beck, PhD: Our poster here, which was also part of the poster tour (we're very honored to have that distinction) is really about our PD GENEration study, which is a large genetic testing and genetic counseling effort that's undertaken by the Parkinson's Foundation. What we're doing new is using WGS as the backbone for testing for people with PD. On a practical level, for the participant, it doesn't really change the results that they get back significantly. They still receive the 7 same genes that we test for that are key to PD. But what the key thing of moving to WGS does is allows us to very quickly share that data with the research community so they can take advantage of it without having to go through multiple steps of processing DNA as we share that with other researchers. This allows us to be able to sequence the data fully in one fell swoop as part of the process, and then through our collaborators with GP2 we are able to then get it out to the broader research community as a whole.

Can you discuss progress on implementations of genetic counseling in clinical care?

One of the things, I think, is as we move to WGS, we also began to expand more broadly into Latin America as part of the process. I think what we realized is, as part of this process, is there's not a one-size-fits-all approach, especially in Latin America, where Spanish—although it may be a common language in name, it's kind of like what happens with British and American English. They're a common language, but separate cultures as part of the process. So instead of implementing just a particular translation for Spanish as part of the process, what we've done is worked very closely with individual regional localities to be able to personalize the approach on how we translate materials, how we think about the genetic counseling aspect of it, so that it really reflects the specific nuances of the regions that are involved as part of the process—so that a person with PD, whether they're in Chile or in Texas or in New York, even if they speak Spanish, they feel that the discussion is culturally relevant to them as part of the process.

Have any challenges come up with that?

I think genetic counseling as a profession is—I don't want to say unique to North America, unique to the United States—but it's something that's incredibly rare elsewhere in the world. So when we go and expand to other localities in the world, we really need to be able to educate the clinicians as part of the process. What we've done through our collaborators at Indiana University is we have developed a training module in order to ensure that the clinicians who are going to be returning the results have some training, some experience, and some coaching to help with that process. These are all accomplished clinicians and very comfortable talking about genetics, but when you start talking about genetics with a person with PD, it shifts to a slightly different level. The experience of certified genetic counselors like we have in the United States—they can help coach and provide some examples of what kinds of questions that might come—and just to ensure, again, that as we move into other regions of the world, that our partners are really prepared in order to help advise their patients on what it means to have a genetic form of PD or not. A key question we always get from [patients] with PD is: if I don’t have a genetic form of PD from a panel, do I still have PD? And the answer is yes—you just don’t have a genetic form that we know of as of yet. And so that's an important thing to be able to out of the gate say "you still have PD, but what we know scientifically may change over time, and this is what we know now."

This transcript has been edited for clarity.