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

Genet Med. 2013 Feb;15(2):150-2. doi: 10.1038/gim.2012.169. Epub 2013 Jan 17.


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.

MeSH terms

  • Consanguinity*
  • Female
  • Genetic Testing / methods
  • Genetic Testing / standards*
  • Genetics, Medical / methods
  • Genetics, Medical / organization & administration
  • Genetics, Medical / standards*
  • Genomics / methods
  • Genomics / organization & administration
  • Genomics / standards*
  • Guidelines as Topic / standards*
  • Humans
  • Incidental Findings*
  • Male
  • United States