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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.
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- ACMG Standards and GuidelinesOpen Archive
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Genetics in MedicineVol. 15Issue 2p150–152Published in issue: February, 2013- Catherine W. Rehder
- Karen L. David
- Betsy Hirsch
- Helga V. Toriello
- Carolyn M. Wilson
- Hutton M. Kearney
Cited in Scopus: 74Genomic 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.
