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- Abul-Husn, Noura S1
- Amendola, Laura M1
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- de Castro, Mauricio1
- Deignan, Joshua L1
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- Miller, David T1
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- Tayeh, Marwan K1
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
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 5100017Published online: February 16, 2023- Joshua L. Deignan
- Mauricio De Castro
- Vanessa L. Horner
- Tami Johnston
- Daniela Macaya
- Joseph J. Maleszewski
- and others
Cited in Scopus: 0A traditional autopsy involves both histopathological examination of tissues and toxicology studies and is often used to help obtain a postmortem diagnosis in cases of sudden death. More recently, molecular technologies including next-generation sequencing are being used to assist in establishing or supporting a diagnosis when traditional autopsies fail to uncover a cause. Next-generation sequencing methods can also be used to more fully characterize a variety of conditions identified at autopsy that are suspected of having a heritable cause. - ACMG Statement
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 7p1407–1414Published online: June 17, 2022- David T. Miller
- Kristy Lee
- Noura S. Abul-Husn
- Laura M. Amendola
- Kyle Brothers
- Wendy K. Chung
- and others
Cited in Scopus: 36The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SF) in the context of clinical exome and genome sequencing in 2013, 2017, and 2021.1-3 The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BOD) have agreed that the list of recommended genes should now be updated annually, but with an ongoing goal of maintaining this as a minimum list. Reporting of SF should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.
