ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
- This is an addendum to the article available online at https://doi.org/10.1038/gim.2012.165 .
- An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- 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.
- Genomic testing, including single-nucleotide polymorphism–based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband’s parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific parental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.
- It now recognized that the use of folate fortification and/or supplementation before initiation of pregnancy can impact the risk of the fetus developing a neural tube defect. This document serves to update the policy statement issued by the American College of Medical Genetics and published in 2005.
- In 1996, a practice guideline on genetic counseling for advanced paternal age was published. The current document updates the state of knowledge of advanced paternal age effects on single gene mutations, chromosome anomalies, and complex traits.
- Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
- Major congenital anomalies occur in 2% to 3% of live births. Neural tube defects (NTDs), cleft lip and palate, and cardiac anomalies are some of the most common. NTDs are a group of serious birth defects that affect the developing nervous system and include anencephaly, spina bifida, and encephalocele. Birth records suggest that about 2500 babies with these birth defects, or 1 to 2 per 1000, are born each year in the United States. Some affected pregnancies are spontaneously or electively aborted.