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.
