As a licensed and certified genetic counselor who works with consumers of genetic DNA tests from companies like 23andMe and AncestryDNA, I often field medical and health questions about Alzheimer’s disease. Some of the companies behind consumer DNA tests provide health risk information on certain diseases, including Alzheimer’s disease. One of the more common questions I receive is, “Now that I know I have a higher Alzheimer’s risk, what should I do?”
Mariann (whose real name has been changed for privacy) was a client whose 23andMe report showed she inherited the e4 variant of a gene called APOE. APOE is a gene that codes for the protein Apolipoprotein. There are three primary genetic variations of this gene: e2, e3, and e4. The e4 variant Mariann inherited is associated with an increased risk for Alzheimer’s disease, although scientists have not determined its exact role in the development of the disease. People inherit two copies of the APOE gene, one from each parent. Inheriting two copies of the e4 variant puts a person at higher risk than having just one. Many people are unaware they are at increased risk for Alzheimer’s disease prior to testing and are often unprepared for the results.
While working with Mariann, I realized connecting with a genetic counselor before viewing her Alzheimer’s disease risk report could have helped her better navigate the stages of shock and confusion that followed her discovery. A genetic counselor could have been there as a source of support, information, and compassion early on.
A genetic counselor does more than just explain your genetic DNA test results to you; they help you prepare ahead of time for whatever a genetic test report might show. They are there for you in the time immediately following your results, when you are adjusting and adapting new information into your life and sense of self. They are aware of the resources available and can connect you with organizations, specialists, and others who know how to help.
I remind my clients that just because a genetic DNA testing report is available to you does not mean you have to look at it. The emotional downside of having genetic DNA testing for risk of Alzheimer’s disease is something to keep in mind. I find it can help to start with a pros/cons list.
First, list all of the benefits you see to viewing the report. Perhaps the knowledge would lead you to plan your life and your estate differently. Perhaps you would feel more inclined to eat better and exercise. Whatever you think is a pro or a con for you, list it—it’s uniquely your own.
Next, list off the websites, videos, and articles you have found to prepare, and make sure this Alzheimer's gene resource is included.
Finally, jot down the names and phone numbers of a few genetic counselors you have found through the “Find a Genetic Counselor” tool. You might not feel like you’ll need a genetic counselor, but know they can offer so much more than just explaining a test result.
Taking Back Control
Finding out you have a genetic risk of developing a condition in the future can feel a bit like losing control when you first make the discovery. Some say it feels like a loss of naivete or that they are grieving a loss of the freedom that comes with not thinking much about the future.
Know that a genetic DNA test result does not and cannot reveal your destiny. You don't have to turn over your hopes or dreams for the future. Find a way back to control with a few steps:
- Look into research studies
- Get up, get moving, and make healthy choices
- Join a peer support group such as ApoE4.info
- Work with a genetic counselor to make sure you have not misunderstood the result
- Work with an individual counselor or therapist for added emotional and grief support
Join in the Research on Alzheimer’s Disease and Risk
Many find joining a research study empowering. Not only is it a way to feel in control, but findings may help others and potentially yourself. “There are many research studies related to Alzheimer’s disease to choose from,” says Susan Hahn, CGC. “Many people think of drug trials, but there are also studies that examine the impact of lifestyle changes or new methods to diagnose or track progression, among others.”
Here are some of the options:
- The Alzheimer’s Prevention Registry has a “find a study” search tool that allows you to search by age and find any studies you qualify to participate in. Many studies enroll any adult age 18 or older, while others are restricted to individuals in certain age brackets such as ages 55-75 years.
- The Alzheimer’s Association has a “trial match” feature on its site where you fill out your details and it will provide a list of research trials open to participation for you, whether you’re low-risk or have risk factors like the e4 variant.
- Other studies can be found through searches on clinicaltrials.gov and opentrials.net. It’s harder to search by age minimum with these tools. Some studies on Alzheimer’s disease do not focus on one gene, like APOE. Make sure you know your particular risk factor as you are searching for studies to consider joining.
- APOE4.net’s online discussion forum has some threads and topics addressing studies.
- Generation Program has a project for those in the 60-75 year-old age bracket who do not show any symptoms of Alzheimer’s disease. The project is designed to help improve understanding and treatment.
How You Can Help Friends and Family
If a family member or friend is considering genetic DNA testing for Alzheimer’s, encourage them to connect with a local genetic counselor by using the Find a Genetic Counselor search tool. Genetic counselors are available in person and for virtual visits, meaning location and concerns about COVID-19 exposure risk should not be an issue.
A genetic counselor is your expert resource when it comes to fitting the results of a DNA test into your life. The best way to prepare for any future health concerns is to connect with a genetic counselor—an expert who can help prepare you for the here-and-now.
Brianne Kirkpatrick is NSGC’s ancestry expert and can discuss the use of genealogy and at-home DNA testing for exploring family connections and genetic health risks. She is the founder of Watershed DNA.
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