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Lack of evidence for MTHFR testing (ACMG Guideline)

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by zenmaster, Jul 31, 2013.

  1. zenmaster

    zenmaster

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    Someone posted this over on the 23AndMe MTHFR thread and wanted to get your guys opinion on it.

    Here is some summary text :

    MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous thromboembolism. There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.

    http://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf
  2. Sea

    Sea Senior Member

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    NSW Australia
    The argument in that article seems to be it's not clinically useful to test anymore because:
    1. The normal diet is supplemented with the compulsory addition of folic acid in many foods and
    2. The recommendation to take folic acid during pregnancy is for all women regardless of MTHFR genotype.

    Sounds like they're looking for ways to save money by not testing.

    It doesn't indicate that any links have been disproven. It does say effects have been found to be milder in some populations since the fortification of foods with folic acid.

    As an aside I thought the reason to take methylfolate if positive for MTHFR mutations was because folic acid could not be utilised by these people. This article seems to be saying that folic acid is doing a good job of rectifying the problems caused by MTHFR.
    Valentijn and LaurieL like this.
  3. Valentijn

    Valentijn Activity Level: 3

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    Amersfoort, Netherlands
    They're also only looking at one specific disease, which isn't what most people here are interested in.
  4. zenmaster

    zenmaster

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    One part has me confused. They seem to claim that elevated levels of homocysteine are not linked to heart issues. Or are they saying the MTHFR mutations have only marginal impacgt on elevating homocysteine levels?
  5. NilaJones

    NilaJones Senior Member

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    Yes.

    Not in the quoted part. I try to avoid pdfs, and am not worried about heart issues, so did not read the fulltext.,
  6. Sea

    Sea Senior Member

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    They don't argue with the idea that elevated level are linked to heart issues. What they do claim is that there is no evidence that lowering homocysteine in those with raised levels makes any positive difference to heart outcomes. So they hypothesise that the raised homocysteine is a marker but not a cause
    NilaJones and Valentijn like this.

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