Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

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  • Additional Information
    • Corporate Authors:
      ACMG Laboratory Quality Assurance Committee
    • Source:
      Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
    • Publication Information:
      Publication: 2022- : [New York] : Elsevier
      Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
    • Subject Terms:
      Genetic Testing* ; Genetics, Medical*; Genome, Human ; Genomics ; Humans ; United States
    • References:
      Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next generation sequencing. Genet Med. 2013;15:733–747. (PMID: 10.1038/gim.2013.92)
      Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–1887. (PMID: 10.1001/jama.2014.14604)
      Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369:1502–1511. (PMID: 10.1056/NEJMoa1306555)
      Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704. (PMID: 10.1038/gim.2015.148)
      Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–586. (PMID: 10.1038/gim.2014.154)
      Eno C, Bayrak-Toydemir P, Bean L, et al. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genet Med. 2019;21:861–866. (PMID: 10.1038/s41436-018-0265-4)
      Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–574. (PMID: 10.1038/gim.2013.73)
      Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–255. (PMID: 10.1038/gim.2016.190)
      Rehder CW, David KL, Hirsch B, et al. Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med. 2013;15:150–152. (PMID: 10.1038/gim.2012.169)
    • Contributed Indexing:
      Keywords: consent; incidental/secondary finding; parentage; sequencing; variant
    • Publication Date:
      Date Created: 20200515 Date Completed: 20210427 Latest Revision: 20220531
    • Publication Date:
      20221213
    • Accession Number:
      10.1038/s41436-020-0821-6
    • Accession Number:
      32404921