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

Authors :
Rehder CW
David KL
Hirsch B
Toriello HV
Wilson CM
Kearney HM
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2013 Feb; Vol. 15 (2), pp. 150-2. Date of Electronic Publication: 2013 Jan 17.
Publication Year :
2013

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.

Details

Language :
English
ISSN :
1530-0366
Volume :
15
Issue :
2
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Type :
Academic Journal
Accession number :
23328890
Full Text :
https://doi.org/10.1038/gim.2012.169