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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • February 2013

Published In

Volume / Issue

  • 15 / 2

Start / End Page

  • 150 - 152

PubMed ID

  • 23328890

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/gim.2012.169


  • eng

Conference Location

  • United States