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.
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)
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.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)
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.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)
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.The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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.Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
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.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)
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.Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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.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)
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.Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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 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)
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.
