Opened in 2019 through the organization and partly supported by Biogen, PD GENEration offers Parkinson’s (PD) patients free genetic testing plus genetic counseling to help them understand test results.
To remove barriers to Parkinson’s research participation in the underserved Hispanic population, the Parkinson’s Foundation decided to offer patients at-home testing and counseling in Spanish. The study seeks to use the testing to boost clinical trial enrollment. In turn, researchers hope to use test results to develop treatment candidates and personalized therapeutic approaches.
“We want the Hispanic community to know that they can be empowered by taking part in the PD GENEration program and that their voices and experiences are incredibly valuable in helping us move the field forward for the entire PD community,” said Ignacio Mata, PhD, chair of the Parkinson’s Foundation Hispanic Parkinson’s Advisory Council, in a press release.
“Offering the study in Spanish is critical to ensuring that the Hispanic community can easily participate and therefore will be well represented in this important study,” Mata said.
After a virtual screening appointment to confirm eligibility, prospective PD GENEration participants schedule a two-hour virtual testing appointment. During that appointment, and with guidance from a healthcare professional, patients complete the genetic assessment. Test results are discussed with a counselor during a follow-up phone appointment.
“The Parkinson’s Foundation has adapted to help the PD community gain access to this valuable and empowering information from the safety and comfort of their homes during the ongoing COVID-19 pandemic and beyond,” said James Beck, PhD, the organization’s chief scientific officer. “We are looking forward to continuing this research study so that we may one day soon be able to provide precision treatments for the 1 million Americans living with Parkinson’s disease.”
Genetic testing and counseling will remain available at six in-person testing sites nationwide. The Foundation expects to add 10 testing sites next year.
In addition to identifying potential clinical trial participants, such testing can help scientists uncover underlying Parkinson’s mechanisms, which could lead to improved treatments and patient care. Understanding genetic differences across people with Parkinson’s can help reveal the disease’s variable effect.
As it stands, genetic tests for Parkinson’s often are unaffordable and not covered by insurance. And, many don’t offer genetic counseling, which can help interpret test results. Consequently, most Parkinson’s patients don’t know whether they carry genetic changes in Parkinson’s-related genes. The PD GENEration study seeks to address this need.
Early study results show that comprehensive genetic testing and counseling, and the identification of rare genetic mutations linked to the disease, is practicable for the Parkinson’s community at large.
Roughly 15% of Parkinson’s cases may be associated with genetic mutation. Since its launch, the PD GENEration study has tested at least 291 people, 52 of whom tested positive for a Parkinson’s-related mutation.
The study tests for the following genes with known Parkinson’s associations: GBA (glucocerebrosidase beta), LRRK2 (dardarin), PRKN (Parkin), PINK1 (PTEN induced putative kinase 1), PARK7 (DJ-1), VPS-35, and SNCA (alpha-synuclein).
To date, some study participants tested have shown extremely rare mutations, with some individuals even carrying multiple Parkinson’s-associated mutations. This information should contribute to a better understanding of the neurodegenerative disorder.
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