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  • MTHFR

    Hi- Could someone help me to determine the best package so I can find out if I have the MTHFR genetic disorder? Thanks

  • #2
    In order to avoid oversight by the FDA over medical result issues in DNA testing, FTDNA does not provide results for any SNPs associated with a medical condition. They scrub those SNP results from the Family Finder autosomal test before providing the raw data to their customers.

    At this point, other than medical testing labs, the only commercial DNA testing company that provides medically related results in their test is 23andMe. However, 23andMe got in a lot of trouble back in 2013 by ignoring FDA requests for a discussion about providing medical results to their customers. So, the FDA slapped 23andMe with an order to not provide medical results. That order ended in Nov., 2015 when 23andMe and the FDA agreed to a limited amount of medically-related results they could provide.

    You'd have to check with 23andMe to see if MTHFR is one of the conditions the FDA currently allows them to test for and inform their customers about. If they can't provide that informaton, you'll have to use a medical testing lab and perhaps get a doctor to order the test.

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    • #3
      Wow,*I don't see why they would want to get in the way of people having that information.

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      • #4
        Originally posted by Aniara View Post
        Wow,*I don't see why they would want to get in the way of people having that information.
        The FDA's position is that merely giving someone a test result for a SNP, without an explanation by a physician, may lead someone to take the wrong medical action. That does seem a little overbearing, but I think it's worth considering. If someone has a concern about a serious medical condition, I think they need to get advice from a medical professional.

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        • #5
          It's a medicolegal can of worms.

          You need to consider any life or health insurance implications of testing. Explaining this sort of thing is part of genetic counselling. People often think "I don't need counselling - I can handle the truth" but it's not "touchy feely" counselling. Same with testing for HIV for example.

          If you find out you have a genetic mutation that can have health implications and then don't declare it when you apply for insurance that could be considered fraud, and your insurance could be void.

          Sometimes you can work it out if you know someone in your family has a gene and where that gene is. For example if you have nieces and nephews with the "Celtic" haemochromatosis (a recessive condition, although some carriers can have symptoms) and they match you at the loci where this gene is, then you (unless their mother's gene was a spontaneous mutation) would have the gene too.

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          • #6
            So I tried running Promethease and the results showed absolutely nothing. Working as intended, I suppose. I think their claims are disingenuous, but it is what it is.

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            • #7
              Has something changed about this?
              I wanted get DNA test from FTDNA in order find possible MTHFR disorders, I was really disappointed when I saw this topic.

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              • #8
                Only thing to add is it isn't just the FDA with their fingers in this stuff. California and New York love to stick their regulatory fingers into anything medical that comes into their jurisdiction as well. They're not alone in the practice, they're just the most stringent/shameless about doing it.

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                • #9
                  How doesn't 23andme have problem with this?

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                  • #10
                    They did, until they got approval from FDA.

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                    • #11
                      Well ok, I guess I'll have to wait then.

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                      • #12
                        Originally posted by Nikolaa91 View Post
                        Well ok, I guess I'll have to wait then.
                        Do you mean you have to wait to test at 23andMe? 23andMe is the only company that emphasizes providing health results at this time. FTDNA is not seeking the FDA's permission for providing health results, so you would be waiting in vain for health results from them. Neither Ancestry nor MyHeritage provide health results, either.

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                        • #13
                          I mean I'll have to wait for FTDNA to overcome this, since 23andme isn't delivering testing kits to my country.

                          MTHFR testing alone is about 100e in my country, but I would like to get ancestry information as well.

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                          • #14
                            I see. If it's that important to you, it's better to save your money toward the MTHFR testing alone than to wait for FTDNA to change their policy, which realistically may never happen. Also, you may want to read the 23andMe blog post about MTHFR.

                            If you really wish to get ancestry information as well, again, save your money and wait for a sale. FTDNA has sales around Christmas, and also has offered coupons in the past to enhance the savings (not guaranteed that they will continue to offer coupons). There are many times throughout the year when FTDNA also offers sales, as well as other companies which might be sold in your country.
                            Last edited by KATM; 4th May 2019, 08:59 AM. Reason: added link

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                            • #15
                              according to the following
                              Code:
                              https://www.xcode.life/23andme-raw-data/mthfr-test-interpret-23andme-mthfr-results/
                              In New Family Finder Results look up rs1801133 and rs1801131 and look at their values

                              FamilytreeDNA's new GSA chip test both the above SNPs, not sure about earlier chip versions
                              New chip also has a SNP listed as MTHFR_c.474A>T_R, chr 1, position 11861219 (not sure how this one can be interpreted)

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