Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Journal Article

Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical Genetics and Genomics (ACMG) standard was published in 2013, and the detection of ROH and UPD by these platforms has shown utility in diagnosis of patients with genetic/genomic disorders. The presence of these segments, when distributed across multiple chromosomes, may indicate a familial relationship between the proband's parents. This technical standard describes the detection of possible consanguinity and UPD by genomic testing, as well as the factors confounding the inference of a specific parental relationship or UPD. Current bioethical and legal issues regarding detection and reporting of consanguinity are also discussed.

Full Text

Duke Authors

Cited Authors

  • Gonzales, PR; Andersen, EF; Brown, TR; Horner, VL; Horwitz, J; Rehder, CW; Rudy, NL; Robin, NH; Thorland, EC; On Behalf Of The Acmg Laboratory Quality Assurance Committee,

Published Date

  • February 2022

Published In

Volume / Issue

  • 24 / 2

Start / End Page

  • 255 - 261

PubMed ID

  • 34906464

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1016/j.gim.2021.10.004


  • eng

Conference Location

  • United States