Risks and limits of MTHFR Labor

MTHFR genetic tests are often marketed directly to consumers, but their clinical utility is limited. The common variants C677T and A1298C are prevalent and usually benign. A positive result can cause unnecessary anxiety or lead to excessive methylfolate supplementation, which may have adverse effects at high doses. Key limits: these tests do not measure actual folate or homocysteine levels – blood work is required. Major medical organizations (e.g., ACMG) do not recommend routine MTHFR screening because the evidence linking variants to common diseases is weak or inconsistent. Risks include misinterpretation, self-treatment, and delayed proper diagnosis. An MTHFR test should only be considered after medical consultation and with a specific clinical question.