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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
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 11p2211–2219Published online: August 30, 2022- Heather E. Williams
- Lila Aiyar
- Mary Beth Dinulos
- David Flannery
- Michelle L. McClure
- Michele A. Lloyd-Puryear
- and others
Cited in Scopus: 0Telegenetics, a form of telemedicine, is 2-way, interactive real-time electronic information communication between a patient and genetics health care professional(s) (ie, medical geneticists [physicians who specialize in genetics] and genetic counselors [health care workers with training in medical genetics and counseling]) as an alternate to providing health care in person at a medical office.1,2 These services include, but are not limited to, assessment, diagnosis, consultation, test result release, education, counseling, management of care, and/or aided self-management. - 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: 19The 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. - 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 Statement
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 3p512–520Published online: December 16, 2021- Laurie H. Seaver
- George Khushf
- Nancy M.P. King
- Dena R. Matalon
- Kunal Sanghavi
- Matteo Vatta
- and others
Cited in Scopus: 2In this era of precision medicine, the incorporation of genetic and genomic information, herein referred to as genetic information, into health care has gained unprecedented attention. As a result of the rapid decline in the cost of DNA sequencing, these data are now routinely used for diagnostic purposes and preventive health screening. In addition to the application of genetic information to support diagnosis and management, consumers may directly access various genetic testing–based products for medical and nonmedical uses, and some employers now offer wellness genetic testing to their employees as a benefit. - CorrectionOpen Archive
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Genetics in MedicineVol. 23Issue 11p2230Published in issue: November, 2021- Erin Rooney Riggs
- Erica F. Andersen
- Athena M. Cherry
- Sibel Kantarci
- Hutton Kearney
- Ankita Patel
- and others
Cited in Scopus: 8The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8 .
