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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

    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 Medicine
    Vol. 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: 0
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      Bias 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 Medicine
      Vol. 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: 0
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        Rare 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.
        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)
      • 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 Medicine
        Vol. 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: 1
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          Complex 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 Medicine
          Vol. 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: 1
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            Polygenic 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 Medicine
            Vol. 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: 0
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              A 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 Medicine
              Vol. 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: 2
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                Individuals 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 Medicine
                Vol. 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: 1
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                  Methylmalonic 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 Medicine
                  Vol. 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: 12
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                    This 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 Medicine
                    Vol. 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: 1
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                      Telegenetics, 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 Medicine
                      Vol. 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: 36
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                        The 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 Medicine
                        Vol. 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: 11
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                          Noninvasive 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.
                          Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
                        • 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 Medicine
                          Vol. 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: 4
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                            Hearing 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.
                            Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
                          • Letter to the Editor
                            Open Archive

                            Response to Righetti et al

                            Genetics in Medicine
                            Vol. 24Issue 5p1162–1163Published online: February 24, 2022
                            • Jeffrey S. Dungan
                            • Mahmoud Aarabi
                            • Susan Klugman
                            • Anthony R. Gregg
                            Cited in Scopus: 1
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                              We 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 Standard
                              Open Archive

                              Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

                              Genetics in Medicine
                              Vol. 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: 6
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                                Pharmacogenomic 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 Standard
                                Open Archive

                                Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                Genetics in Medicine
                                Vol. 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: 1
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                                  Assays 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 Statement
                                  Open Archive

                                  Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

                                  Genetics in Medicine
                                  Vol. 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: 1
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                                    Human 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
                                    Open 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 Medicine
                                    Vol. 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: 3
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                                      In 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 Standard
                                      Open 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 Medicine
                                      Vol. 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: 4
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                                        Genomic 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.
                                      • Addendum
                                        Open Archive

                                        Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders

                                        Genetics in Medicine
                                        Vol. 24Issue 1p253–253.e1Published online: November 30, 2021
                                        • Caroline Astbury
                                        • Judith Benkendorf
                                        • ACMG Laboratory Quality Assurance Committee
                                        Cited in Scopus: 0
                                        Online Extra
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                                          This 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.
                                        • Correction
                                          Open 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 Medicine
                                          Vol. 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: 10
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                                            The original article can be found online at https://doi.org/10.1038/s41436-019-0686-8 .
                                          • ACMG Practice Guidelines
                                            Open 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 Medicine
                                            Vol. 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: 125
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                                              To 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.
                                              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)
                                            • ACMG Statement
                                              Open 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 Medicine
                                              Vol. 23Issue 11p2027–2028Published in issue: November, 2021
                                              • ACMG Board of Directors
                                              Cited in Scopus: 3
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                                                A correction to this article is available online at https://doi.org/10.1038/s41436-021-01275-x .
                                              • ACMG Practice Resource
                                                Open 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 Medicine
                                                Vol. 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: 86
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                                                  Carrier 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.
                                                  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)
                                                • ACMG Technical Standard
                                                  Open 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 Medicine
                                                  Vol. 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: 11
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                                                    Chromosomal 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 Resource
                                                    Open 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 Medicine
                                                    Vol. 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: 23
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                                                      PALB2 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.
                                                      Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
                                                    • ACMG Statement
                                                      Open Archive

                                                      ACMG SF v3.0 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 Medicine
                                                      Vol. 23Issue 8p1381–1390Published in issue: August, 2021
                                                      • David T. Miller
                                                      • Kristy Lee
                                                      • Wendy K. Chung
                                                      • Adam S. Gordon
                                                      • Gail E. Herman
                                                      • Teri E. Klein
                                                      • and others
                                                      Cited in Scopus: 224
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                                                        A correction to this article is available online at https://doi.org/10.1038/s41436-021-01278-8 .
                                                        ACMG SF v3.0 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)
                                                      • ACMG Statement
                                                        Open Archive

                                                        Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

                                                        Genetics in Medicine
                                                        Vol. 23Issue 7p1179–1184Published in issue: July, 2021
                                                        • Elizabeth C. Chao
                                                        • Caroline Astbury
                                                        • Joshua L. Deignan
                                                        • Melissa Pronold
                                                        • Honey V. Reddi
                                                        • Jeffrey N. Weitzel
                                                        • and others
                                                        Cited in Scopus: 9
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                                                          With recent advances in DNA sequencing technology, it is now possible to begin to appreciate the full scope of DNA variation that arises over the course of an individual’s lifetime.1,2 Our understanding of how the human genome changes over time and in response to external exposures is growing with the improved availability of next-generation sequencing (NGS) based testing, including exome/genome sequencing of large patient cohorts. Clinical laboratories employing NGS-based methodologies can detect many types of DNA sequence variation including those that are present at a reduced variant allele fraction (VAF) (i.e., less than the 50% expected for a heterozygous germline finding).
                                                        • ACMG Statement
                                                          Open Archive

                                                          DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

                                                          Genetics in Medicine
                                                          Vol. 23Issue 6p989–995Published in issue: June, 2021
                                                          • Michael F. Murray
                                                          • Monica A. Giovanni
                                                          • Debra L. Doyle
                                                          • Steven M. Harrison
                                                          • Elaine Lyon
                                                          • Kandamurugu Manickam
                                                          • and others
                                                          Cited in Scopus: 28
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                                                            A comment to this article is available online at https://doi.org/10.1038/s41436-021-01141-w .
                                                            DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
                                                          • ACMG Statement
                                                            Open Archive

                                                            DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

                                                            Genetics in Medicine
                                                            Vol. 23Issue 6p979–988Published in issue: June, 2021
                                                            • Lora J.H. Bean
                                                            • Maren T. Scheuner
                                                            • Michael F. Murray
                                                            • Leslie G. Biesecker
                                                            • Robert C. Green
                                                            • Kristin G. Monaghan
                                                            • and others
                                                            Cited in Scopus: 9
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                                                              A comment to this article is available online at https://doi.org/10.1038/s41436-021-01141-w .
                                                            • Addendum
                                                              Open Archive

                                                              Focused Revision: ACMG practice resource: Genetic evaluation of short stature

                                                              Genetics in Medicine
                                                              Vol. 23Issue 5p813–815Published in issue: May, 2021
                                                              • Cassie S. Mintz
                                                              • Laurie H. Seaver
                                                              • Mira Irons
                                                              • Adda Grimberg
                                                              • Reymundo Lozano
                                                              • ACMG Professional Practice and Guidelines Committee
                                                              Cited in Scopus: 7
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                                                                Addendum to: “ACMG practice guideline: Genetic evaluation of short stature”. Laurie H. Seaver, MD and Mira Irons, MD; ACMG Professional Practice and Guidelines Committee Genetics in Medicine 11:465–470 (2009); https://doi.org/10.1097/GIM.0b013e3181a7e8f8 ; published online 02 April 2009.
                                                                Focused Revision: ACMG practice resource: Genetic evaluation of short stature
                                                              • ACMG Technical Standard
                                                                Open Archive

                                                                Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                Genetics in Medicine
                                                                Vol. 23Issue 5p799–812Published in issue: May, 2021
                                                                • Elaine Spector
                                                                • Andrea Behlmann
                                                                • Kathryn Kronquist
                                                                • Nancy C. Rose
                                                                • Elaine Lyon
                                                                • Honey V. Reddi
                                                                • and others
                                                                Cited in Scopus: 14
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                                                                  Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X–associated tremor ataxia syndrome (FXTAS), and fragile X–associated primary ovarian insufficiency (FXPOI). This document provides updated information regarding FMR1 pathogenic variants, including prevalence, genotype–phenotype correlations, and variant nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction (PCR) amplification of FMR1, including triplet repeat–primed and methylation-specific PCR.
                                                                  Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                                                • ACMG Technical Standard
                                                                  Open Archive

                                                                  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                  Genetics in Medicine
                                                                  Vol. 23Issue 2p249–258Published in issue: February, 2021
                                                                  • Marcus J. Miller
                                                                  • Kristina Cusmano-Ozog
                                                                  • Devin Oglesbee
                                                                  • Sarah Young
                                                                  • ACMG Laboratory Quality Assurance Committee
                                                                  Cited in Scopus: 12
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                                                                    Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. For newborn screening applications, dried blood spot acylcarnitine analysis can be performed as a multiplex assay with other analytes, including amino acids, succinylacetone, guanidinoacetate, creatine, and lysophosphatidylcholines.
                                                                    Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                                                  • Addendum
                                                                    Open Archive

                                                                    Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

                                                                    Genetics in Medicine
                                                                    Vol. 22Issue 12p2125Published in issue: December, 2020
                                                                    • Michael T. Bashford
                                                                    • Scott E. Hickey
                                                                    • Cynthia J. Curry
                                                                    • Helga V. Toriello
                                                                    • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                                                                    Cited in Scopus: 0
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                                                                      This is an addendum to the article available online at https://doi.org/10.1038/gim.2012.165 .
                                                                    • Addendum
                                                                      Open Archive

                                                                      Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome

                                                                      Genetics in Medicine
                                                                      Vol. 22Issue 12p2127Published in issue: December, 2020
                                                                      • Manisha Balwani
                                                                      • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                                                                      Cited in Scopus: 0
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                                                                        The original statement was published in the ACMG newsletter in 1996.
                                                                      • Addendum
                                                                        Open Archive

                                                                        Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

                                                                        Genetics in Medicine
                                                                        Vol. 22Issue 12p2126Published in issue: December, 2020
                                                                        • Melanie Manning
                                                                        • Louanne Hudgins
                                                                        • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                                                                        Cited in Scopus: 2
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                                                                          Addendum to: Genetics in Medicine 12:742–745 (2010) https://doi.org/10.1097/GIM.0b013e3181f8baad , published online 18 October 2010.
                                                                        • Addendum
                                                                          Open Archive

                                                                          Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

                                                                          Genetics in Medicine
                                                                          Vol. 22Issue 12p2128Published in issue: December, 2020
                                                                          • Edward D. Esplin
                                                                          • American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                                                                          Cited in Scopus: 0
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                                                                            Addendum to: Genetics in Medicine7:650–654 (2005); https://doi.org/10.1097/01.gim.0000186545.83160.1e , published online 01 November 2005
                                                                          • ACMG Practice Resource
                                                                            Open Archive

                                                                            Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

                                                                            Genetics in Medicine
                                                                            Vol. 22Issue 11p1735–1742Published in issue: November, 2020
                                                                            • Kim L. McBride
                                                                            • Susan A. Berry
                                                                            • Nancy Braverman
                                                                            • ACMG Therapeutics Committee
                                                                            Cited in Scopus: 6
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                                                                              Mucopolysaccharidosis, type II (MPS II, MIM 309900) is a severe lysosomal storage disease with multisystem involvement. There is one product approved by the FDA, an enzyme replacement therapy, based on a phase III trial in older, attenuated MPS II individuals. Guidance on treatment of MPS II is lacking, not only in general, but for specific clinical situations. A previous systematic evidence-based review of treatment for MPS II demonstrated insufficient strength in all data analyzed to create a definitive practice guideline based solely on published evidence.
                                                                              Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
                                                                            • ACMG Statement
                                                                              Open Archive

                                                                              The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

                                                                              Genetics in Medicine
                                                                              Vol. 22Issue 9p1431–1436Published in issue: September, 2020
                                                                              • Theresa A. Grebe
                                                                              • George Khushf
                                                                              • Margaret Chen
                                                                              • Dawn Bailey
                                                                              • Leslie Manace Brenman
                                                                              • Marc S. Williams
                                                                              • and others
                                                                              Cited in Scopus: 24
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                                                                                Disclaimer: This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement 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. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
                                                                              • Correction
                                                                                Open Archive

                                                                                Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

                                                                                Genetics in Medicine
                                                                                Vol. 22Issue 9p1568Published in issue: September, 2020
                                                                                • Michael T. Bashford
                                                                                • Scott E. Hickey
                                                                                • Cynthia J. Curry
                                                                                • Helga V. Toriello
                                                                                Cited in Scopus: 0
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                                                                                  An amendment to this paper has been published and can be accessed via a link at the top of the paper.
                                                                                • ACMG Statement
                                                                                  Open 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 Medicine
                                                                                  Vol. 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: 6
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                                                                                    Trio-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.
                                                                                  • ACMG Technical Standard
                                                                                    Open Archive

                                                                                    CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                                    Genetics in Medicine
                                                                                    Vol. 22Issue 8p1288–1295Published in issue: August, 2020
                                                                                    • Joshua L. Deignan
                                                                                    • Caroline Astbury
                                                                                    • Garry R. Cutting
                                                                                    • Daniela del Gaudio
                                                                                    • Anthony R. Gregg
                                                                                    • Wayne W. Grody
                                                                                    • and others
                                                                                    Cited in Scopus: 25
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                                                                                      Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease, and these variants were usually assessed using targeted methods.
                                                                                    • ACMG Statement
                                                                                      Open Archive

                                                                                      Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

                                                                                      Genetics in Medicine
                                                                                      Vol. 22Issue 7p1133–1141Published in issue: July, 2020
                                                                                      • Daniela del Gaudio
                                                                                      • Marwan Shinawi
                                                                                      • Caroline Astbury
                                                                                      • Marwan K. Tayeh
                                                                                      • Kristen L. Deak
                                                                                      • Gordana Raca
                                                                                      • and others
                                                                                      Cited in Scopus: 61
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                                                                                        In 1980, Eric Engel1 first proposed the concept of uniparental disomy (UPD), in which both homologous chromosomes are inherited from one parent, with no contribution (for that chromosome) from the other parent. In 1988, the first case of a Mendelian disorder associated with UPD was reported, in which a child with cystic fibrosis (MIM 219700) had inherited two copies of a pathogenic variant in CFTR (MIM 602421) from a heterozygous carrier mother, with no contribution from the biological father.2
                                                                                        Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
                                                                                      • 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

                                                                                          Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

                                                                                          Genetics in Medicine
                                                                                          Vol. 22Issue 6p983–985Published in issue: June, 2020
                                                                                          • Sarah T. South
                                                                                          • Michelle McClure
                                                                                          • Caroline Astbury
                                                                                          • Michael T. Bashford
                                                                                          • Judith Benkendorf
                                                                                          • Edward D. Esplin
                                                                                          • and others
                                                                                          Cited in Scopus: 0
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                                                                                            This document represents an update to the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to categorize laboratory-developed tests (LDTs) for inherited conditions according to risk.1 Risk classification has historically been a determinant of whether, and to what extent, the US Food and Drug Administration (FDA) has overseen and regulated clinical tests. LDTs for constitutional variants continue to proliferate without a comprehensive federal regulatory framework in place.
                                                                                          • ACMG Systematic Evidence Review
                                                                                            Open Archive

                                                                                            Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

                                                                                            Genetics in Medicine
                                                                                            Vol. 22Issue 6p986–1004Published in issue: June, 2020
                                                                                            • Jennifer Malinowski
                                                                                            • David T. Miller
                                                                                            • Laurie Demmer
                                                                                            • Jennifer Gannon
                                                                                            • Elaine Maria Pereira
                                                                                            • Molly C. Schroeder
                                                                                            • and others
                                                                                            Cited in Scopus: 36
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                                                                                              Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population.
                                                                                              Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
                                                                                            • ACMG Statement
                                                                                              Open Archive

                                                                                              Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

                                                                                              Genetics in Medicine
                                                                                              Vol. 22Issue 4p681–685Published in issue: April, 2020
                                                                                              • Tuya Pal
                                                                                              • Doreen Agnese
                                                                                              • Mary Daly
                                                                                              • Albert La Spada
                                                                                              • Jennifer Litton
                                                                                              • Myra Wick
                                                                                              • and others
                                                                                              Cited in Scopus: 20
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                                                                                                Of all cancers that develop in women in the United States, breast cancer has the highest incidence, regardless of race or ethnicity, with an estimated 271,270 new cases and 42,260 deaths during 2019.1 Approximately 5–10% of breast cancers are estimated to result from hereditary causes, the majority of which are attributed to pathogenic or likely pathogenic (P/LP) variants in the BRCA1 and BRCA2 (BRCA1/2) genes, although other variants in genes such as PALB2, TP53, PTEN, CDH1, CHEK2, and ATM contribute.
                                                                                              • ACMG Technical Standards
                                                                                                Open Archive

                                                                                                Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                                                Genetics in Medicine
                                                                                                Vol. 22Issue 4p686–697Published in issue: April, 2020
                                                                                                • Irene De Biase
                                                                                                • Silvia Tortorelli
                                                                                                • Lisa Kratz
                                                                                                • Steven J. Steinberg
                                                                                                • Kristina Cusmano-Ozog
                                                                                                • Nancy Braverman
                                                                                                • and others
                                                                                                Cited in Scopus: 11
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                                                                                                  Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended Uniform Screening Panel for newborn screening programs in the United States may increase detection of this and other peroxisomal disorders.
                                                                                                  Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                                                                                • ACMG Statement
                                                                                                  Open Archive

                                                                                                  The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

                                                                                                  Genetics in Medicine
                                                                                                  Vol. 22Issue 4p675–680Published in issue: April, 2020
                                                                                                  • Kristin G. Monaghan
                                                                                                  • Natalia T. Leach
                                                                                                  • Dawn Pekarek
                                                                                                  • Priya Prasad
                                                                                                  • Nancy C. Rose
                                                                                                  Cited in Scopus: 104
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                                                                                                    Approximately 2–4% of pregnancies are complicated by significant fetal structural anomalies. Given respect for reproductive autonomy, all patients diagnosed with a fetal anomaly should be offered genetic counseling, including review of options for genetic testing.1 The prenatal testing strategy and test selection should be individualized and guided by prenatal imaging findings and family history. Current options include chromosomal studies by karyotyping, fluorescence in situ hybridization, and chromosomal microarray analysis (CMA) with consideration of targeted gene-specific molecular testing for suspected disorders.
                                                                                                  • ACMG Technical Standards
                                                                                                    Open Archive

                                                                                                    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                                                    Genetics in Medicine
                                                                                                    Vol. 22Issue 3p453–461Published in issue: March, 2020
                                                                                                    • Lora Bean
                                                                                                    • Birgit Funke
                                                                                                    • Colleen M. Carlston
                                                                                                    • Jennifer L. Gannon
                                                                                                    • Sibel Kantarci
                                                                                                    • Bryan L. Krock
                                                                                                    • and others
                                                                                                    Cited in Scopus: 58
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                                                                                                      Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene–disease association) and technical completeness (e.g., depth of coverage), standards that address technical and clinical aspects of gene panels are needed.
                                                                                                      Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                                                                                    • ACMG Technical Standards
                                                                                                      Open Archive

                                                                                                      Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                                                                      Genetics in Medicine
                                                                                                      Vol. 22Issue 3p462–474Published in issue: March, 2020
                                                                                                      • Glenn E. Palomaki
                                                                                                      • Caleb Bupp
                                                                                                      • Anthony R. Gregg
                                                                                                      • Mary E. Norton
                                                                                                      • Devin Oglesbee
                                                                                                      • Robert G. Best
                                                                                                      • and others
                                                                                                      Cited in Scopus: 12
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                                                                                                        Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. The basic screening methodology was described in the late 1970s and screening programs were active a few years later. By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation.
                                                                                                        Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
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