Need info on genetic testing

[Verax]

I bought both 23andMe and ancestry.com DNA tests. Be aware that results differ. https://www.reddit.com/r/23andme/commen ... different/

The Primer should explain that, if you want to know your Apoe variant status, patients should not be misled by ancestry.com reports. The 23andMe result is from an FDA-approved lab, but ancestry.com hasn't sought approval for health reports, only ancestry. You can download raw data from both but the ancestry.com raw data run through Promethease can be misleading unless you follow the cautions. As well, competitor labs to 23andMe have complained that some of its raw data is unverified and inaccurate; consider that when use for changing meds or lifestyle. In the future, we may have complete genomic data, as current raw data is only of a selection of genes not complete. There are many polymorphisms associated with AD as with other diseases, but Apoe4 seems the most important, and I see no reason to distrust 23andMe with just that result. My E3/E4 status from 23andMe was confirmed by an independent genetic testing lab.

You can also get a free Apoe test from GeneMatch https://www.endalznow.org/genematch but they don't tell you the result, just tell you if you are eligible for a clinical trial for AD. If you enroll in a trial they should tell you your status and offer at least virtual genetic counseling. I would encourage anyone who suspects they might be an E4 carrier to take the test and if positive volunteer for any clinical trial for which they are eligible, as only randomized clinical trials with sufficient volunteers can find a way to prevent or cure this disease with a largely hereditary cause. https://clinicaltrials.gov/ct2/show/NCT03131453

[Verax]

Sorry, I see this is discussed in part in another thread I hadn't yet read, https://www.apoe4.info/forums/viewtopic.php?f=2&t=4785 so the Primer should address it, I believe.

[NF52]

The Primer should explain that, if you want to know your Apoe variant status, patients should not be misled by ancestry.com reports. The 23andMe result is from an FDA-approved lab, but ancestry.com hasn't sought approval for health reports, only ancestry.

Hi Verax,

You are right that this is a topic that has received quite a bit of attention both here and in online forums as well as some new articles. It's been especially frustrating, I imagine, for people who did Ancestry.com mostly for genealogy research, but assumed that if they looked at the raw data through Promethease it would be 100% accurate.

The Primer serves many purposes, but mostly it functions as its title suggests: A guide to understanding the basics about many areas associated with ApoE-4 related risks. A search of the topic titles shows that Stavia, the physician-author, is concerned with giving both information and advice to people who are asking the inevitable "Now what?" questions.
The Welcomepage and Wiki both link to a section called Thinking about Testing
Here's the specific quote from Thinking About Testing that addresses commercial tests:

You can order a direct-to-consumer test such as that offered by 23andMe. TheFDA-approved Health+Ancestry test will tell you whether you carry 0, 1, or 2 APOE-ε4 alleles and provide information about your propensity to develop several other medical conditions. The Pros: Knowing your genetic risk information allows you to take preventative steps. By ordering the test yourself, you can keep this information out of your medical records until/unless you choose to confer with a physician. The Cons: Because you are receiving several potentially distressing genetic test results at one time, the experience can be overwhelming. Unless you’ve taken the time to go through the process of informed consent for each genetic risk, you may not be ideally prepared. Your results may also raise questions. Should you wish to keep the information out of your medical records, it may be hard to access medical help.‌

As for volunteering for clinical trials, it is true most currently will tell you if you have one or two copies of ApoE 4 IF that is central to the requirements for the test. But I would encourage people to not casually use this process just to confirm that status, as it is an expensive use of time and resources that are part of the first step in a careful screening process.

[reluctantexan]

Is it dangerous to share DNA testing results with our PCP? I've thought about the possible repercussions. Medicare can't refuse us, can it? Is this a minefield?

[NF52]

Is it dangerous to share DNA testing results with our PCP? I've thought about the possible repercussions. Medicare can't refuse us, can it? Is this a minefield?

Medicare cannot refuse you enrollment based on genetic information, nor can health insurance companies. Employers are also not allowed to discriminate based on genetic information. What is not specifically protected in GINA is eligibility for Long-Term Care Insurance. LTC providers can and do ask for information about your health history to decide if you are someone they choose to insure. That's why people on the forum suggest getting LTC insurance, if that's something you plan to do, before you tell your PCP about your ApoE 4 results. (Although since you're a 3/3, as I remember, you don't have to worry about that, I assume.) Some of us have also gotten our PCPs to agree to not put this in medical records.

The Genetic Information Nondiscrimination Act (GINA) - PDF was signed into law on May 21, 2008. GINA protects individuals against discrimination based on their genetic information in health coverage and in employment. GINA is divided into two sections, or Titles. Title I of GINA prohibits discrimination based on genetic information in health coverage. Title II of GINA prohibits discrimination based on genetic information in employment.

h[url]ttps://www.hhs.gov/hipaa/for-professionals/spe ... index.html[/url]

[reluctantexan]

NF52, thanks so much.