Always talk to your doctor about genetic testing in Parkinson's disease (PD) and speak to a genetic counselor before and after taking the test. Knowing your genetic status can provide a sense of empowerment and control and may lead to better treatment and care.
Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials. Several ongoing clinical trials are already testing treatments for people who carry certain PD gene mutations in LRRK2 and GBA. For people with Parkinson's, genetic tests are either not available or not affordable, and not covered by health insurance or offered with genetic counseling. Studies like PD GENEration are underway and offer free genetic testing with genetic counseling to help interpret results.
Currently, genetic testing is available through your doctor for the genes: GBA, PARK7, SNCA, LRRK2, parkin and PINK1. At-home tests only look for one of several changes in LRRK2 (G2019S) and GBA (N370S) and do not map the entire gene to look for other mutations, which is a major goal of PD GENEration.
Researchers are optimistic that using individualized treatments aimed at people with a specific genetic mutation will produce better responses and more effective therapies. The hope is that discoveries through genetics may lead to new, more effective Parkinson's therapies that will be tailored to each person's unique experience.
What Should You Know About At-Home Genetic Tests?
Genetic tests are not a substitute for a Parkinson's diagnosis. Most at-home genetic tests do not provide genetic counseling services to help interpret the results. Always consult with a genetic counselor and your doctor before and after taking a genetic test. Most at-home genetic tests check for a limited number of gene mutations associated with Parkinson's. This can be misleading since these tests may not be comprehensive.
Since scientists are still discovering more PD-associated genes, it is important to consult your doctor about comprehensive genetic testing options, like the PD GENEration study, which provides a free comprehensive genetic test identifying all possible variants in the two most common PD genes.
Even if you or a loved-one test positive for a Parkinson's gene, it does not mean either of you will develop it. Having a genetic mutation only means that you may be at increased risk to develop PD. Environmental factors and lifestyle choices will help determine whether someone will get Parkinson's.