ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

作者：Hickey Scott E^*; Curry Cynthia J; Toriello Helga V

来源：Genetics in Medicine, 2013, 15(2): 153-156.

DOI：10.1038/gim.2012.165

• folic acid
• homocysteine
• MTHFR polymorphism
• thermolabile variant
• thrombophilia
• thrombosis

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. Genet Med 2013:15(2):153-156

• 出版日期2013-2