Recent years have seen a rise in the number of Parkinson’s disease (PD) clinical trials enrolling patients with specific genetic variants. As the possibilities for precision medicine and the understanding of genotype-phenotype correlations evolve, genetic testing is of increasing importance. Jennifer Verbrugge, MS, CGC, LGC, Indiana University School of Medicine, Indianapolis, IN, discusses the PD GENEration study (NCT04057794), a national initiative to assess the feasibility and impact of providing in-person versus remote genetic testing and counseling for patients with PD. Nearly 300 participants were randomized to receive genetic test results and counseling in person or over the phone. Surveys assessing satisfaction, patient knowledge, and psychological impact were shown not to differ between the trial arms. The findings of this pilot study show that both in-person and remote models for genetic testing are feasible and therefore, expanded enrollment is underway, enabling many patients to receive free genetic testing and counseling. This interview took place during the American Academy of Neurology (AAN) 2021 Annual Meeting.
Transcript (edited for clarity)
So I’m really excited to be talking to you about the PD-GENEration study. So this is a national initiative that’s sponsored by the Parkinson’s Foundation and it’s offering genetic testing and genetic counseling at no cost to people diagnosed with Parkinson’s disease. This is a study conducted across the US that really hopes to empower patients with Parkinson’s disease to really understand their own genetic test results through genetic counseling...
So I’m really excited to be talking to you about the PD-GENEration study. So this is a national initiative that’s sponsored by the Parkinson’s Foundation and it’s offering genetic testing and genetic counseling at no cost to people diagnosed with Parkinson’s disease. This is a study conducted across the US that really hopes to empower patients with Parkinson’s disease to really understand their own genetic test results through genetic counseling. And that participants can then work with their doctors to determine if they qualify for clinical trials and really to encourage them to participate in Parkinson’s research. The study also hopes to gather valuable genetic data to hopefully advance researchers’ understanding of the genetics of Parkinson’s.
So this study that we looked at was a subset of nearly 300 participants taken from the pilot study. And in the pilot study, we really wanted to understand some patient-reported outcomes, really looking at patient satisfaction with their test result disclosure and their genetic counseling. We want to understand participant knowledge of PD genetics, and we really also wanted to understand the psychological impact of these genetic test results on study participants.
So what we did is participants completed surveys either prior to, or after, the disclosure and genetic counseling. And then we really wanted to compare these outcomes based on the mode of genetic counseling and test disclosure that was provided. So participants were either randomized to receive their genetic test results in person via a doctor or neurologist at the study site or a genetic counselor at the study site, or via a remote genetic counselor at a centralized center via telephone. So what we found when we compare these outcomes, satisfaction, knowledge, and the psychological impact of receiving their genetic test results through these different modes is we really didn’t see any differences in these outcomes based on the mode of test disclosure and genetic counseling. Which is very, very critical and helpful in the grand scheme of this as the study hopes to really expand their enrollment, the PD-GENEration study really hopes to be able to offer testing and genetic counseling to upwards of 15,000 people with Parkinson’s disease. So this will allow flexibility in the study as we really scale up the genetic testing, the test disclosure, and the genetic counseling in the study.