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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
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 3p509–511Published online: December 16, 2021- Robert G. Best
- George Khushf
- Sara Schonfeld Rabin-Havt
- Ellen Wright Clayton
- Theresa A. Grebe
- Jill Hagenkord
- and others
Cited in Scopus: 1Human genomic data linked to health records have become valuable in the quest to establish correlations between disease and genetic information. As a result, it has become increasingly common for patient genetic information obtained through clinical testing or other means to be de-identified and linked to health records for sale or transfer to a third party for research and development purposes (eg, novel drug targets, patient and provider tools for managing health care). Unlike many other elements within the de-identified data set, however, the patient’s genetic information in various forms (eg, DNA sequence, RNA sequence, aggregated variant data, optical mapping) may be sufficiently information-rich to permit reidentification of the patient using informatics tools in some cases and is considered by some to be inherently identifiable. - ACMG StatementOpen Archive
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)
Genetics in MedicineVol. 22Issue 8p1285–1287Published in issue: August, 2020- Joshua L. Deignan
- Elizabeth Chao
- Jennifer L. Gannon
- Henry T. Greely
- Kelly D. Farwell Hagman
- Rong Mao
- and others
Cited in Scopus: 7Trio-based genetic analysis (typically involving a child and their biological parents) is an important tool in clinical diagnostic testing, as this type of analysis aids in developing an accurate understanding of the inheritance of variants observed in the proband.1-5 Understanding if a variant is inherited or is de novo can directly affect variant classification and result interpretation; consequently, misunderstanding the true biological relationship between analyzed samples can lead to erroneous clinical interpretations.
