Parkinson’s Foundation Strives for More Latino Inclusion in Genetic Testing Initiative
To better understand how Parkinson’s disease affects minorities, the Parkinson’s Foundation is aiming to increase participation of this patient population, and particularly that of Latinos, in its PD GENEration genetic testing program.
Doctors don’t yet have a clear picture of how Parkinson’s uniquely affects the Latino community, so it’s important for them to be able to study how the disease manifests in Latinos, what mutations they are more prone to, and how environmental factors may affect the progression of the disorder. But for that to be possible, studies like PD GENEration must be able to recruit enough minority participants.
“There’s a lot of things that we still don’t know,” Ignacio Mata, PhD, assistant staff at the Cleveland Clinic Lerner College of Medicine, a Parkinson’s Foundation Center of Excellence, said in a video interview with Parkinson’s News Today.
Anecdotally, Mata said Latino patients are presenting a slightly different phenotype — an individual’s observable traits — though more data are needed to link race to a person’s Parkinson’s manifestation.
Of the 2,411 individuals who have participated in PD GENEration, 137 are Latino. To boost that number, the Parkinson’s Foundation expanded genetic testing to the Dominican Republic and Puerto Rico in August.
It also established the Hispanic Parkinson’s Advisory Council in December 2019. Led by Mata, the group’s goal is to increase Latino participation in PD GENEration. Since the council’s inception, PD GENEration has doubled the percentage of Latino participants from approximately 3% to 6%.
Adding more Latinos — and Parkinson’s patients as a whole — could help uncover the true share of those whose cause of disease is familial, environmental, or idiopathic, meaning the specific cause of the disease is unknown.
According to María De León, MD, a Latino woman with Parkinson’s who participated in PD GENEration and who is a movement disorder neurologist, PD GENEration gives minorities more information about their disease than ever before. This knowledge will help them in the long run as new medicines are developed, she said.
“Patients are then able to participate in further clinical studies and trials and do other treatments that could then lead to further information and developing the science and also perhaps, to a cure of any given subtype of Parkinson’s that’s caused by genetic difference,” said Leon in the joint interview with Mata. Leon, 53, a resident of East Texas, also is part of the Hispanic Parkinson’s Advisory Council.
Being part of PD GENEration does more than simply return a genetic test to the patient, these advocates noted. Participants also can get a full neurological evaluation and genetic counseling, which may help them gain an understanding of the Parkinson’s symptoms they might face in the future, and their likelihood of passing the disorder on to any biological children. In addition, the results could help them determine the clinical trials for which they would be eligible.
Those interested in enrolling in PD GENEration can visit the program website to find in-person sites or conduct an at-home test, which requires a screening appointment, video conference with a doctor for a complete clinical assessment, and follow-up genetic counseling.
Because PD GENEration is relatively new and COVID-19 stopped the process of receiving new data for a couple of months, researchers like Mata haven’t been able to glean a lot from the genetic reports coming in; however, assumptions that doctors once had are now being challenged.
Historically, it’s been estimated that Parkinson’s is caused by genetic factors in about 10% of patients. But for the more than 2,000 people who have been tested through the initiative, that rate is closer to 15%–16%.
“We have assumed for years that it’s not genetic most of the time, but what if it is?” De León said. “That puts a different perspective on how you treat it, screen patients, or raise family members.”
Mata added that the study’s percentage may be higher than it is in reality, given its smaller sample size and the fact those with a family history are more likely to sign up. Nonetheless, it shows a substantial difference from what was initially thought.
And that’s for merely seven of the 24 Parkinson’s-causing genes PD GENEration is focusing on — which includes the common GBA, LRRK2, and SCNA mutations. Testing for the other 17 mutations would be extremely costly, plus those seven are targets for drug development and clinical trials. With more participation from African Americans and Latinos, scientists might find other mutations and understand the pathology of the disease in different patient populations.
In part proving that point, PD GENEration recorded the first reported case of a Latino with the VPS35 gene mutation. Previously, it had only been seen in Asian and European populations.
PD GENEration puts the genetic information in the hands of the patients and helps educate them about the disease, the advocates say. De León and Mata both agree this simple breakthrough could have lasting consequences for greater Latino participation in trials, as one study has shown that only 3% of enrollees in 41 Parkinson’s clinical trials were Latino.
“Having foundations, having this information, having clinicians being able to explain this in lay terms to individuals is going to help,” Mata said. “Them participating in PD GENEration and getting this education from the genetic counselors kind of gets rid of the fear they have of participating in clinical trials where new treatments are being tested.”
The Parkinson’s Foundation worked with Mata and the Latin American Research Consortium on the Genetics of Parkinson’s Disease, known as LARGE-PD, which recently published a study looking at Parkinson’s in five Latin American countries, to expand PD GENEration to the Dominican Republic and Puerto Rico. In the future, Mata, who is a principal investigator for LARGE-PD, hopes to further expand the number of countries in which PD GENEration is available.
“As we move more virtual, and we learn how to do that efficiently, I think we’ll be able to be more inclusive and can provide this to any patient that is anywhere in the U.S. or outside of the U.S. as well,” Mata said.