This month’s expert is Beth McCarty Wood, MS, LCGC, Senior Genetic Counselor, Telegenetics Program at the University of Pennsylvania.
First, thank you for joining GeneMatch. Your decision gives you the opportunity to get involved in studies to prevent Alzheimer’s disease. In my opinion, GeneMatch is helping pave the way to a future free of Alzheimer’s.
I’m often asked by people with a family history of Alzheimer’s disease about their individual risk for also developing the disease. This is a natural question, and also a highly personal one. I always encourage these people to meet with a genetic counselor to discuss their personal questions and concerns. An up-to-date “Find a Genetic Counselor” directory is available on the National Society of Genetic Counselors (NSGC) website.
To answer your question about GeneMatch, I first want to highlight its role. GeneMatch is a registry as well as a research tool. It brings together people like you with leading Alzheimer’s researchers who are seeking participants for prevention trials. GeneMatch promotes those Alzheimer’s prevention trials and then helps people get involved in them.
GeneMatch is not a medical genetics service. It does, however, use APOE test results to match individuals to research studies. As background for all readers, a particular type of the APOE gene, commonly referred to as the e4 type of APOE, is associated with a higher risk of developing mild cognitive impairment (MCI) or dementia due to Alzheimer’s disease.
Whether or not you learn your APOE test results will depend on the requirements of the study for which you qualify and decide to join. If you’re involved with a prevention trial when you learn those results, you’ll work with genetic counselors and other health care professionals who can explain the limitations and implications of genetic testing and explore other critical information. Being connected to a professional team like this is also important should you have any difficulty coping with your results.
Let’s consider other reasons GeneMatch does not disclose genetic test results:
As a genetic counselor, I appreciate your interest and desire to learn the results of your APOE test. I hope you have a better understanding of why the GeneMatch registry itself is unable to provide you that information. As you mentioned in your letter, you may be invited to participate in a study that will require you to learn your APOE results, in which case you be will connected with professionals who can work with you for the return of your personal APOE results.
Thank you again for your support of GeneMatch, Charlene.