American College of medical genetics and genomics: Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Catherine W. Rehder, Karen L. David, Betsy Hirsch, Helga V. Toriello, Carolyn M. Wilson, Hutton M. Kearney

Research output: Contribution to journalArticlepeer-review

59 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)150-152
Number of pages3
JournalGenetics in Medicine
Volume15
Issue number2
DOIs
StatePublished - Feb 2013

Keywords

  • consanguinity
  • homozygosity
  • laboratory guideline

Fingerprint Dive into the research topics of 'American College of medical genetics and genomics: Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing'. Together they form a unique fingerprint.

Cite this