http://www.ncbi.nlm.nih.gov/pubmed/23328890

Genet Med. 2013 Jan 17. doi: 10.1038/gim.2012.169. [Epub ahead of print]

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

Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM.

Source

Duke University Health System, Durham, North Carolina.

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 p-arental 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.