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- Miller, David T7
- Monaghan, Kristin G7
- Deignan, Joshua L6
- Reddi, Honey V6
- Stewart, Douglas R6
- Astbury, Caroline5
- Esplin, Edward D5
- Rose, Nancy C5
- Bashford, Michael T4
- Best, Robert G4
- Chung, Wendy K4
- Klugman, Susan4
- Scheuner, Maren T4
- Aarabi, Mahmoud3
- Andersen, Erica F3
- Chen, Margaret3
- Cusmano-Ozog, Kristina3
- Dungan, Jeffrey S3
- Abu-El-Haija, Aya2
- Amendola, Laura M2
- Aradhya, Swaroop2
- Benkendorf, Judith2
- Braverman, Nancy2
- Brenman, Leslie Manace2
- Burrage, Lindsay C2
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- clinical genetic testing3
- genetic testing3
- variant3
- Cell-free DNA2
- Chromosomal microarray2
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- Exome sequencing2
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- ACMG 561
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- Autopsy1
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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.
66 Results
- ACMG Statement
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 6100812Published online: April 14, 2023- Dena R. Matalon
- Cinthya J. Zepeda-Mendoza
- Mahmoud Aarabi
- Kaitlyn Brown
- Stephanie M. Fullerton
- Shagun Kaur
- and others
Cited in Scopus: 0Bias within medicine, when unaddressed or not mitigated, has the potential to negatively affect health equity. As genetic testing becomes increasingly endorsed by the medical community and available to the public, a working group formed by members of the Social, Ethical and Legal Issues and Diversity, Equity and Inclusion committees of the American College of Medical Genetics and Genomics (ACMG) developed this document in an effort to address current factors in which bias can occur in clinical genetic testing and within the medical genetics profession, with the goal of fostering awareness and identifying strategies to reduce bias and improve health equity. - ACMG Statement
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 6100831Published online: April 9, 2023- Loren D.M. Peña
- Lindsay C. Burrage
- Gregory M. Enns
- Edward D. Esplin
- Cary Harding
- Jerry R. Mendell
- and others
Cited in Scopus: 0Rare diseases are not cumulatively rare given that approximately 1 in 20 people is affected by 1 of more than 7000 known rare diseases.1 Many of these disorders have a genetic basis, and the list of US Food and Drug Administration (FDA) approved orphan drugs for rare disease is growing.2 However, therapies are still not available for most rare genetic diseases. This points to consider focuses on the growing list of nucleic acid-based technologies being explored for therapeutics, including viral- and nonviral-based gene transfer, gene editing, and messenger RNA and antisense oligonucleotide therapies, which cumulatively lead to growing optimism and require specific knowledge and considerations in the area of rare disease therapeutics. - ACMG Statement
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 5100804Published online: March 27, 2023- Honey V. Reddi
- Hannah Wand
- Birgit Funke
- Michael T. Zimmermann
- Matthew S. Lebo
- Emily Qian
- and others
Cited in Scopus: 1Complex health related disorders, including some forms of cardiovascular disease, diabetes, asthma, autism, and cancer, arise through the relative contributions of genetic, environmental, and lifestyle factors over long periods of time. Unlike monogenic disorders, complex disorders develop via a cumulative effect across many genomic loci, each conferring small individual risks. Polygenic risk scores (PRSs)1 combine these small individual variant effects to predict risk for developing complex disorders (Box 1) and may be combined with monogenic disease risk and nongenetic risk factors in an integrated risk model to predict disease risk more accurately. - ACMG Statement
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 5100803Published online: March 15, 2023- Aya Abu-El-Haija
- Honey V. Reddi
- Hannah Wand
- Nancy C. Rose
- Mari Mori
- Emily Qian
- and others
Cited in Scopus: 1Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait, disorder, or disease results from the combined contribution of variants from multiple genes. Most chronic illnesses and complex disorders are multifactorial and are associated with polygenic inheritance and environmental influences. Genome-wide association studies (GWAS) evaluate the association of specific loci with various complex disorders, such as cardiovascular disease, diabetes, cancer, neuropsychiatric conditions, or individual traits, such as height and blood pressure. - 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
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 3100342Published online: December 22, 2022- Marwan K. Tayeh
- Margaret Chen
- Stephanie M. Fullerton
- Patrick R. Gonzales
- Samuel J. Huang
- Lauren J. Massingham
- and others
Cited in Scopus: 2Individuals have a right to access certain information in their medical records as established under the Health Insurance Portability and Accountability Act of 1996 (HIPAA).1 The specific information to which individuals have access is called a designated record set (DRS), a legal term of art defined in the HIPAA Standards for Privacy of Individually Identifiable Health Information (Privacy Rule).2 The Privacy Rule is a federal medical privacy law that applies to most clinical laboratories operating in the United States. - ACMG Statement
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 2100337Published online: December 19, 2022- Kuntal Sen
- Lindsay C. Burrage
- Kimberly A. Chapman
- Ilona Ginevic
- George V. Mazariegos
- Brett H. Graham
- and others
Cited in Scopus: 1Methylmalonic acidemia (MMA; OMIM 251000 , OMIM 251100 , OMIM 251110 , OMIM 277410 , OMIM 277400 ) and propionic acidemia (PA; OMIM 606054 ) are inborn errors of metabolism of the propionate pathway characterized by accumulation of methylmalonic acid and propionic acid, respectively, leading to acute presentations related to metabolic acidosis and hyperammonemia, as well as chronic heterogenous complications. - ACMG Practice Guideline
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 25Issue 2100336Published online: December 16, 2022- Jeffrey S. Dungan
- Susan Klugman
- Sandra Darilek
- Jennifer Malinowski
- Yassmine M.N. Akkari
- Kristin G. Monaghan
- and others
Cited in Scopus: 12This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy 18, or trisomy 13 and to evaluate the utility of NIPS for other chromosomal disorders. - 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: 1Telegenetics, 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: 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. - ACMG Systematic Evidence Review
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
Genetics in MedicineVol. 24Issue 7p1379–1391Published online: May 24, 2022- Nancy C. Rose
- Elizabeth S. Barrie
- Jennifer Malinowski
- Gabrielle P. Jenkins
- Monica R. McClain
- Danielle LaGrave
- and others
Cited in Scopus: 11Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population. - ACMG Practice Resource
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 7p1392–1406Published online: May 10, 2022- Marilyn M. Li
- Ahmad Abou Tayoun
- Marina DiStefano
- Arti Pandya
- Heidi L. Rehm
- Nathaniel H. Robin
- and others
Cited in Scopus: 4Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. - Letter to the EditorOpen Archive
Response to Righetti et al
Genetics in MedicineVol. 24Issue 5p1162–1163Published online: February 24, 2022- Jeffrey S. Dungan
- Mahmoud Aarabi
- Susan Klugman
- Anthony R. Gregg
Cited in Scopus: 1We thank Righetti et al1 for their interest in our article titled Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).2 We were pleased to learn that the investigators from the Australian Reproductive Genetic Carrier Screening Project (ARGCSP) are in agreement with many aspects of this practice resource. - ACMG Technical StandardOpen Archive
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 4p759–768Published online: February 10, 2022- Marwan K. Tayeh
- Andrea Gaedigk
- Matthew P. Goetz
- Teri E. Klein
- Elaine Lyon
- Gwendolyn A. McMillin
- and others
Cited in Scopus: 6Pharmacogenomic testing interrogates germline sequence variants implicated in interindividual drug response variability to infer a drug response phenotype and to guide medication management for certain drugs. Specifically, discrete aspects of pharmacokinetics, such as drug metabolism, and pharmacodynamics, as well as drug sensitivity, can be predicted by genes that code for proteins involved in these pathways. Pharmacogenomics is unique and differs from inherited disease genetics because the drug response phenotype can be drug-dependent and is often unrecognized until an unexpected drug reaction occurs or a patient fails to respond to a medication. - ACMG Technical StandardOpen Archive
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 4p769–783Published online: February 10, 2022- Erin T. Strovel
- Kristina Cusmano-Ozog
- Tim Wood
- Chunli Yu
- on behalf of the ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 1Assays that measure lysosomal enzyme activity are important tools for the screening and diagnosis of lysosomal storage disorders (LSDs). They are often ordered in combination with urine oligosaccharide and glycosaminoglycan analysis, additional biomarker assays, and/or DNA sequencing when an LSD is suspected. Enzyme testing in whole blood/leukocytes, serum/plasma, cultured fibroblasts, or dried blood spots demonstrating deficient enzyme activity remains a key component of LSD diagnosis and is often prompted by characteristic clinical findings, abnormal newborn screening, abnormal biochemical findings (eg, elevated glycosaminoglycans), or molecular results indicating pathogenic variants or variants of uncertain significance in a gene associated with an LSD. - ACMG StatementOpen Archive
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 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: 3In 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. - ACMG Technical StandardOpen Archive
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 24Issue 2p255–261Published online: December 3, 2021- Patrick R. Gonzales
- Erica F. Andersen
- Teneille R. Brown
- Vanessa L. Horner
- Juli Horwitz
- Catherine W. Rehder
- and others
Cited in Scopus: 4Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)–based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect possible uniparental disomy (UPD). Platforms that can detect ROH and possible UPD have matured since the initial American College of Medical Genetics and Genomics (ACMG) standard was published in 2013, and the detection of ROH and UPD by these platforms has shown utility in diagnosis of patients with genetic/genomic disorders. - AddendumOpen Archive
Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
Genetics in MedicineVol. 24Issue 1p253–253.e1Published online: November 30, 2021- Caroline Astbury
- Judith Benkendorf
- ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 0This document was retired by the American College of Medical Genetics and Genomics (ACMG) Board of Directors as of May 20, 2019 with the following addendum. - 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: 10The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8 . - ACMG Practice GuidelinesOpen Archive
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 11p2029–2037Published in issue: November, 2021- Kandamurugu Manickam
- Monica R. McClain
- Laurie A. Demmer
- Sawona Biswas
- Hutton M. Kearney
- Jennifer Malinowski
- and others
Cited in Scopus: 125To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years. - ACMG StatementOpen Archive
Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 11p2027–2028Published in issue: November, 2021- ACMG Board of Directors
Cited in Scopus: 3A correction to this article is available online at https://doi.org/10.1038/s41436-021-01275-x . - ACMG Practice ResourceOpen Archive
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 10p1793–1806Published in issue: October, 2021- Anthony R. Gregg
- Mahmoud Aarabi
- Susan Klugman
- Natalia T. Leach
- Michael T. Bashford
- Tamar Goldwaser
- and others
Cited in Scopus: 86Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase “expanded carrier screening” is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. - ACMG Technical StandardOpen Archive
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 10p1818–1829Published in issue: October, 2021- Lina Shao
- Yassmine Akkari
- Linda D. Cooley
- David T. Miller
- Bryce A. Seifert
- Daynna J. Wolff
- and others
Cited in Scopus: 11Chromosomal microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism array, are widely applied in the diagnostic evaluation for both constitutional and neoplastic disorders. In a constitutional setting, this technology is accepted as the first-tier test for the evaluation of chromosomal imbalances associated with intellectual disability, autism, and/or multiple congenital anomalies. Furthermore, chromosomal microarray analysis is recommended for patients undergoing invasive prenatal diagnosis with one or more major fetal structural abnormalities identified by ultrasonographic examination, and in the evaluation of intrauterine fetal demise or stillbirth when further cytogenetic analysis is desired. - ACMG Practice ResourceOpen Archive
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 23Issue 8p1416–1423Published in issue: August, 2021- Marc Tischkowitz
- Judith Balmaña
- William D. Foulkes
- Paul James
- Joanne Ngeow
- Rita Schmutzler
- and others
Cited in Scopus: 23PALB2 germline pathogenic variants are associated with increased breast cancer risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health-care professionals managing PALB2 heterozygotes are currently limited.