A Parkinson’s disease (PD) diagnosis can provide some clarity as to what symptoms to expect and guidance for treatment for those beginning their disease journey. However, more information is required for the true understanding of the biological cause of the disease as it is not the same for every person with PD. One avenue for people with PD and their care partners that may increase this understanding is through participating in the Parkinson’s Foundation PD GENEration: Mapping the Future of Parkinson’s Disease study that provides genetic testing for PD-associated genetic variants and counseling at no cost to the participant.

Results from the PD GENEration study are also shared with the larger PD research community and provide an opportunity for participants to make a significant contribution to the global genetic registry for PD. Historically, genetic testing of people with PD has not been frequently offered, and often genetic research results have not been returned.

 There has been common belief in the medical community that there is little clinical utility in genetic testing for people with PD. In other words, providers may think that the results do not provide meaningful information that impacts treatment or symptom management — and therefore it is not worth the effort or cost to undertake. Recently, a study published in npj Parkinson’s Disease in partnership with the Parkinson’s Foundation has shown data-driven evidence that PD genetic testing provides impactful personal utility, benefitting participants in altruistic, life-affirming, and research-advancing ways not measured before.

 Research led by Hannah Oas, MS, CGC, and her colleagues at  Indiana University, a Parkinson’s Foundation Center of Excellence, involved reaching out to people who participated in PD GENEration from 2019 to 2021. More than 1,600 PD GENEration participants, all of whom had received their genetic testing and counseling, were sent a questionnaire asking if they found such information and the experience useful. Nearly 1,000 responses came back with 80% saying that the genetic testing was useful in both “Satisfying [their] curiosity” and they “Feel good about helping the medical community.”

 More than half of the participants also found the testing useful in the following ways:

• “Simply to provide information” (78%)
• “Feel good about having information for my family members” (77%)
• “Contribute to my self-knowledge" (70%)
• “Feel good about taking responsibility for my children’s health (63%)
• “Help understand my health” (51%)

 Even more encouraging was that there was no significant difference in perceived personal utility between those with positive and negative genetic results. In other words, the participants who learned that they did not have any PD-associated mutations found the testing just as useful as those who discovered that they did have such a mutation.

 The researchers also investigated whether genetic testing increased participants’ interest in signing up for future PD clinical trials. Both people with and without PD-associated mutations are potentially valuable in such trials, as those without mutations provide useful control data when comparing against data from those with mutations. In summary:

• 33% of people with positive results expressed that genetic testing increased their interest in enrolling in additional studies
• 12% of those with negative results said the same

 Each person’s motivation for engaging in clinical research is different, and it is difficult to capture such personal and contextual nuances in a simple survey. What matters is that the data show genetic testing encouraged a portion of people to continue contributing to PD trials, an amount that could make the difference between a trial failing to begin or uncovering the next big breakthrough.

 Altogether, this study highlights that genetic testing for those diagnosed with PD provides personal utility and can provide motivation for participation in additional clinical trials. The nature of the utility was both self-fulfilling (satisfying curiosity, providing information) and altruistic (feeling good about helping the medical community, having information for family members).

 As PD GENEration continues to provide genetic testing to those with Parkinson’s to increase our biological understanding of the disease, people with PD and their care providers should be encouraged by the personal benefits that come from such testing opportunities as well.

 Learn more about the Parkinson’s Foundation global genetics study, PD GENEration.

Image caption : The first-ever Parkinson’s Foundation event in Mexico City, Mexico, drew 215 attendees, with 82 people participating in PD GENEration onsite. The event featured panels on Parkinson’s, cognition, exercise and research, with more than 20 doctors in attendance.