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    • Cover Image - Genetics in Medicine, Volume 25, Issue 6
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ACMG Statements and Guidelines

These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.

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  • ACMG Statement
    Open Archive

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

    Genetics in Medicine
    Vol. 22Issue 7p1142–1148Published in issue: July, 2020
    • Marilyn M. Li
    • Elizabeth Chao
    • Edward D. Esplin
    • David T. Miller
    • Katherine L. Nathanson
    • Sharon E. Plon
    • and others
    Cited in Scopus: 43
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      The sequencing of tumor-derived DNA to identify tumor-specific variations (biomarkers) with potential diagnostic, prognostic, or predictive therapeutic implications (hereafter, “tumor testing”) is a prominent example of precision medicine. Although the primary goal of this testing is the identification of biomarkers to guide patient management, testing tumor genomes also has the potential to uncover clinically relevant germline variation that is associated with heritable cancer susceptibility and other conditions, and carrier status for autosomal recessive disorders, if confirmed to be present in the germline.
    • ACMG Statement
      Open Archive

      The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

      Genetics in Medicine
      Vol. 21Issue 7p1467–1468Published in issue: July, 2019
      • ACMG Board of Directors
      Cited in Scopus: 40
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        The American College of Medical Genetics and Genomics (ACMG) has previously published policy statements on the reporting of secondary findings in clinical exome and genome sequencing (ACMG SF v1.0 and ACMG SF v2.0), also known as the “ACMG 56” and “ACMG 59,” respectively.1,2 These recommendations specifically stated that “reporting some incidental [a.k.a. secondary] findings would likely have medical benefit for the patients and families of patients undergoing clinical sequencing” (ACMG board’s emphasis).
      • ACMG Statement
        Open Archive

        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

        Genetics in Medicine
        Vol. 19Issue 2p249–255Published in issue: February, 2017
        • Sarah S. Kalia
        • Kathy Adelman
        • Sherri J. Bale
        • Wendy K. Chung
        • Christine Eng
        • James P. Evans
        • and others
        Cited in Scopus: 1159
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          Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results.
          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
        • ACMG Policy Statement
          Open Archive

          ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

          Genetics in Medicine
          Vol. 15Issue 7p565–574Published in issue: July, 2013
          • Robert C. Green
          • Jonathan S. Berg
          • Wayne W. Grody
          • Sarah S. Kalia
          • Bruce R. Korf
          • Christa L. Martin
          • and others
          Cited in Scopus: 1871
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            In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results.
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