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
Language
- eng
Conference Location
- United States