Through its national study, PD GENEration: Mapping the Future of Parkinson’s Disease, the Parkinson’s Foundation is giving people with Parkinson’s disease (PD) insights into their PD and opportunities to take action, while accelerating PD treatments. Genetic counseling, offered in English and Spanish, is a critical and unique part of this study.
Licensed, board-certified genetic counselors Jeanine Schulze, MS, CGC, and Jennifer Verbrugge, MS, CGC, are with the Department of Medical and Molecular Genetics at the Indiana University School of Medicine, a Parkinson’s Foundation Center of Excellence. Both have taken part in several PD genetic testing research initiatives, including PD GENEration.
Their collaboration answers the following questions that highlight the importance of screening for biological Parkinson’s factors in those who live with PD and how genetic counseling is critical to navigating genetic test results.
Q: Why is genetic testing important for people with Parkinson’s?
A: People with Parkinson’s may seek genetic testing for several reasons. Some people want a better understanding of why they developed Parkinson’s, or to learn more about their individual disease. Others are concerned about the risk to their family.
Genetic testing can identify if a change in a gene, or what we call a variant, contributed to Parkinson’s disease. If a genetic variant is identified it can give us information about inheritance in the family, if other family members might be at risk of Parkinson’s and what that level of risk may be. In some cases, genetic test results might give us information about potential symptoms, treatment or future progression.
Identifying a genetic variant in a person with Parkinson’s can also open the door to research studies such as clinical trials. People with Parkinson’s who carry genetic variants can play a critical role in helping researchers learn more about what causes Parkinson’s, and how we might be able to treat it. There are different types of research studies looking for people with specific genetic variants; some are evaluating new treatments while others are following people over time to learn more about how genetic variants impact Parkinson’s symptoms and progression.
Q: What does a genetic counselor do?
A: Genetic counselors empower people with Parkinson’s and their families with information, guidance and emotional support. Counselors help them understand biological history, evaluate genetic testing options and make informed choices based on test results.
Q: How is PD GENEration setting the bar for Parkinson’s-specific genetic reporting and counseling?
A: The study puts participants at its center, helping them understand their genetic test results and encourage them to partner in future PD research. PD GENEration provides genetic counseling to every participant. The high-level, comprehensive genetic test is designed to cover all seven of the major PD gene variants, including those important for clinical trials and other research participation.
Q: How is genetic counseling through PD GENEration unique?
A: This study enables access to genetic testing and counseling to people with PD across the U.S. at no cost. The new virtual option gives access to people who previously might have been too far from a study site or unable to travel. Participants can have their questions answered by genetic counselors who are highly specialized in Parkinson’s disease and PD genetics. Counseling is offered in Spanish and English.
Q: What should people know about at-home genetic tests?
A: There are many kinds of at-home genetic tests available. Some of these, called direct-to-consumer genetic tests, are performed without the involvement of a physician or a health care provider. These tests do not fall under the same guidelines as those ordered through a clinician, and often provide limited or incomplete information.
The PD GENEration at-home genetic testing is ordered through a PD GENEration healthcare provider. Staff mail a collection kit, and coordinators help explain how to collect the genetic sample during the video visit. The sample is mailed to the clinically-certified laboratory running the PD GENEration genetic testing panel. This test was carefully designed and results are carefully analyzed. Each participant’s genetic information is protected by the research study and the lab doing testing. Results are reported to participants by a genetic counselor or clinician who can answer questions and discuss any complexities.
Q: What should a person with PD expect when meeting with a genetic counselor?
A: A genetic counseling appointment may consist of a face-to-face, telephone or video discussion with a genetic counselor. Sessions may last anywhere from 20 to 60 minutes, but the length of the time depends on the type of visit, number of questions and complexity of testing or testing results.
During a genetic counseling session, a counselor may discuss how genetics plays a role in Parkinson’s disease, gather family history and explain how genetic factors and/or test results may impact family members.
To learn more about in-person or at-home PD GENEration participation, visit Parkinson.org/PDGENEration or call the Parkinson's Foundation Helpline 1-800-4PD-INFO.