Ask the Expert: Why Can't I Learn My Results? | Alzheimer's Prevention Registry

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March 27, 2017

Ask the Expert: Why Can't I Learn My Results?

By Alzheimer's Prevention Bulletin

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This month’s expert is Beth McCarty Wood, MS, LCGC, Senior Genetic Counselor, Telegenetics Program at the University of Pennsylvania.

Dear Ms. McCarty Wood,
I submitted my DNA to the GeneMatch program, but they say I can’t learn my APOE test results unless I’m enrolled in a study that requires me to learn them. Shouldn’t I be able to find out the results of my own DNA?

Dear Charlene,

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:

  • APOE is not a definitive test – No genetic test exists that can predict the common type of Alzheimer’s disease that affects people later in life. Someone’s APOE result provides an estimated overall risk of developing dementia due to Alzheimer’s disease not a definitive prediction. Even if someone does not have any copies of the e4 risk factor, they could still develop dementia due to Alzheimer’s disease. As you can see, there are limitations and nuances as to what can be gleaned from APOE genetic testing. This is one of the reasons it is important to speak directly with an expert when learning this type of genetic information. 
  • Requirements from outside organizations and agencies – The American College of Medical Genetics and NSGC are reputable professional societies comprised of genetic counselors and other health care professionals who are committed to excellence in medical genetics. Both organizations recommend individual APOE genotype results be disclosed by genetic counselors or other clinicians familiar with genetic testing. Additionally, three federal agencies oversee genetic testing nationwide. GeneMatch complies with all of these regulations. 

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.