APOE

Open your at-home DNA Alzheimer's report when you're already on the phone with a genetic counselor

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June is Alzheimer's Awareness month which seems an appropriate time for an updated post on Alzheimer's disease.

I've compiled resources about Alzheimer's disease genetic testing into one place (see the bottom of this post). I'm also including some direction on how to involve a genetic counselor when you prepare to open your 23andMe report on late-onset Alzheimer's disease risk (or a third-party report run on a raw data file, like Promethease). 

Panic doesn't have to be part of the equation if you find out you have an elevated risk of developing Alzheimer's disease.

The advice and resources included below can help reduce or stop the panic before it has a chance to start.

If you haven't worked with a genetic counselor before, a genetic counselor is a great partner to have when you are deciding to have DNA testing or at the point of learning DNA results that could have a profound effect on your outlook for the future.

I can speak for all genetic counselors when I say we aren't trying to keep you from your genetic information. We aren't trying to meddle with your rights or get between you and knowledge about yourself. Genetic counselors know you can handle what you find out. 

It's our job to get you the correct information and help you locate support you when you need it.

After your results are back but before you open your Alzheimer's risk report, consider finding a genetic counselor to have on call. Schedule an appointment with them*, and open your report together with your genetic counselor on the phone or over video chat.

*Ways to do that include scheduling with me here or someone else in the Genome Medical network here* or searching for someone located near you here. Watershed DNA and Genome Medical services available only to U.S. residents at this time.

You'll have instant access to information, support, and next-steps if you find out you carry an elevated risk of late-onset Alzheimer's disease. If you find out your risk does not appear to be elevated, you can use the rest of the time with your genetic counselor to review your family and personal medical history.

Your genetic counselor can explain other types of testing that might fit your needs.

It might be carrier screening if you're planning a family, or a proactive genetic screen if you're healthy but curious about future risks. Diagnostic testing might be what you need if you already have a medical condition or health symptoms. 

A one-time appointment with a genetic counselor -- whether you're having unexplained medical issues or are healthy without any specific genetic concerns -- can set you on the right path. At-home DNA tests merely skim the surface.

Find a genetic counselor to be your partner, and keep learning about the different tests available. Some DNA tests are medical-grade and some are not, so make sure you've taken the right one. 

Learning about your genetic risks can be empowering if you know what to do with the information you learn.

Your Alzheimer's risk report might be ready and waiting for you, but don't feel pressured to open it right away. Read some of these articles, then look for a genetic counselor to have on the line, if it feels right to you.

Watershed DNA blog post: Should you do a home DNA test for Alzheimer's?

Watershed DNA blog post: Need help fighting the urge to open your Alzheimer's disease risk report?

Watershed DNA blog post by guest writer Jamie Fong: Alzheimer's disease - key points

apoe4.info article: Thinking about testing? APOE4.info is a support organization founded and operated by individuals who have found out they carry an elevated risk of Alzheimer's disease based on genetic results. Not all of the content on the site has been developed or reviewed by medical/genetics providers and researchers. Check with your doctor before you make changes based on what you read on the site.

Article from the Philadelphia Inquirer - highlights one person's experience learning about her elevated Alzheimer's risk and advice and resources for others 

Readers who are in the age range of 60-75 years old, you have a chance to help make a difference for your children and grandchildren by enrolling in the Generation Program. There are some particular criteria for participants, so read more here to find out if you're eligible.

-Brianne

 

Click here to schedule your session with Brianne Kirkpatrick, MS, LCGC.

 

Should you do a home DNA test for Alzheimer's?

Alzheimer's is a complicated disease.

There are early-onset forms and late-onset forms that have different genes involved. The risk to develop Alzheimer's as a result of genetic predisposition varies from person to person and family to family, depending on which form is going on and which gene or genes are involved.

We don't know and understand all the factors that cause Alzheimer's yet, so while genetic testing can be helpful, it oftentimes won't be able to tell the whole story. 

If you have raw genomic data you've downloaded from a consumer DNA test (like Ancestry, Family Tree DNA, MyHeritage, or 23andMe), I want you to know some of the limitations that have come to our attention. 

There are known miscalls (testing errors) happening for some of the Alzheimer's-associated DNA markers. Ancestry's chip (v2) is miscalling the APOE e4 variant as normal in those who actually are positive, for example. 23andMe (v5) seems to be having the opposite issue with falsely miscalling a SNP as positive in one of the early-onset genes.

Also, the markers included on testing at consumer companies change over time, so if you try to run an analysis on your raw data (by using Promethease, as an example), your report can change from one file to the next and vary over time. You might see things pop on one report that don't appear on another, depending on the testing company or the version of testing that was used.

My advice when people ask about results on Alzheimer's genes and the results they get back from testing at home is this: talk with a genetic counselor (like myself or someone else you find in your area) to make sure you are understanding the results, and always follow up a home-based test with a clinical test before believing them as "real".

Interested in reading more? Here are two other posts you can read about Alzheimer's and whether to find out if you might have a genetic risk:

https://www.watersheddna.com/blog-and-news/alzheimers-disease-key-points-to-know-in-light-of-the-new-23andme-reports

https://www.watersheddna.com/blog-and-news/need-help-fighting-the-urge-to-open-your-alzheimers-disease-risk-report

Need help fighting the urge to open your Alzheimer's disease risk report?

Fighting the urge to find out your APOE status from a 23andMe genetic risk report is impossible for some. Even with multiple layers of warnings a customer goes through to be able to view the report, it's easy to click boxes and breeze through to your report in less than a minute. 

But if you have no symptoms of Alzheimer's disease, the American College of Medical Genetics and Genomics wants you to think twice before checking on your APOE gene status. APOE is associated with (but not causative for) Alzheimer's disease for some people. 40% of people with the version of the APOE gene associated with Alzheimer's will live their entire lives asymptomatic. 

A few years ago, ACMG partnered with the Choosing Wisely campaign to offer directiveness on genetic testing of the APOE gene. The ACMG assessment offers links to references that support their stance that doing predictive testing for Alzheimer's disease in someone without symptoms is, well, NOT WISE.

My job as a genetic counselor isn't to tell people whether they are being wise or unwise. My job is to offer the options, to share what we currently do and do not know about genetic disease risk associations, to connect my clients with resources for more support and learning, and to guide them in making a decision that is right for them, at least right now. 

What we know now about the genetics of Alzheimer's disease is limited, and interventions like treatments and drugs are heavily researched but so far not highly promising. Would you want to know you carry an association that many in the world do, that in many cases never results in the development of Alzheimer's disease? It's a tough choice. A genetic counselor can help you think through these things.

Maybe fighting the urge to open certain reports is what you need right now.    

http://www.choosingwisely.org/clinician-lists/american-college-medical-genetics-genomics-apoe-genetic-testing-to-predict-alzheimer-disease/