title: American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
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.
authors: Duke University Health System, Durham, NC, USA. catherine.rehder@duke.edu
authors: Catherine W
authors: CW
authors: Rehder
authors: Karen L
authors: KL
authors: David
authors: Betsy
authors: B
authors: Hirsch
authors: Helga V
authors: HV
authors: Toriello
authors: Carolyn M
authors: CM
authors: Wilson
authors: Hutton M
authors: HM
authors: Kearney
mesh_terms: D003241:Consanguinity; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D005826:Genetics, Medical / Q000379:methods / Q000458:organization & administration / Q000592:standards*; D023281:Genomics / Q000379:methods / Q000458:organization & administration / Q000592:standards*; D017408:Guidelines as Topic / Q000592:standards*; D006801:Humans; D033162:Incidental Findings; D008297:Male; D014481:United States