American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Abstract

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.Genet Med 2013:15(2):150–152

DOI: 10.1038/gim.2012.169
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Cite this paper

@article{Rehder2013AmericanCO, title={American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing}, author={Catherine W Rehder and Karen Laurie David and Betsy Hirsch and Helga V. Toriello and Carolyn M. Wilson and Hutton M. Kearney}, journal={Genetics in Medicine}, year={2013}, volume={15}, pages={150-152} }