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The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics. [1]
The ACMG, incorporated in 1991, stated mission to give national representation to providers of genetic services and their patients with genetic disorders; to provide education and resources for the medical genetics profession; to improve the health of the public by promoting the development and implementation of methods to diagnose, treat and prevent genetic disease.
In 1993, ACMG publishes the first edition of the ACMG Standards and Guidelines for Clinical Genetic Laboratories and supports the formation of the American Board of Genetic Counseling.
The first Annual Clinical Genetic Meeting is held in 1994. Next year, the College becomes a full member of the Council of Medical Specialty Societies.
ACMG has an Official Journal, Genetics in Medicine. The first issue was released in 1998.
In 2011, the organization's board of directors voted to change its name from the "American College of Medical Genetics" to "American College of Medical Genetics and Genomics". [2]
ACMG aims to develop clinical practice guidelines; laboratory services directories, databases, population screening guidelines and to establish uniform laboratory standards, quality assurance and proficiency testing. [3]
ACMG and the American Academy of Pediatrics have jointly published guidelines in dealing with the ethical issues in pediatric genetic testing. [4]
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
Pharmacogenomics, often abbreviated "PGx," is the study of the role of the genome in drug response. Its name reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of a patient affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response, by correlating DNA mutations with pharmacokinetic, pharmacodynamic, and/or immunogenic endpoints.
The American College of Physicians (ACP) is a Philadelphia-based national organization of internal medicine physicians, who specialize in the diagnosis, treatment, and care of adults. With 161,000 members, ACP is the largest medical-specialty organization and second-largest physician group in the United States. Its flagship journal, the Annals of Internal Medicine, is among the most widely cited peer-reviewed medical journals in the world.
The Clinical Laboratory Improvement Amendments (CLIA) of 1988 are United States federal regulatory standards that apply to all clinical laboratory testing performed on humans in the United States, except clinical trials and basic research.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Bruce Richard Korf is a medical geneticist at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG), a professional organization.
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics.
The Program for Jewish Genetic Health is a centralized resource for the Jewish community, addressing all health concerns related to the medical genetics of the Jewish people. The Program's stated mission is to protect the health of the current Jewish community and its future generations. Launched in 2011, the Program for Jewish Genetic Health integrates the social mission they Montefiore Health System with the clinical services, genetic education, and biomedical advances of its medical school, the Albert Einstein College of Medicine.
David Lawrence Rimoin was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.
Genetics nursing is a nursing specialty that focuses on providing genetic healthcare to patients.
A variant of uncertainsignificance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose connection to a human disease has not been established, and "insignificant mutation", referring to a gene variant that has no impact on the health or function of an organism. The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely. When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant". A "pharmacogenomic variant" has an effect only when an individual takes a particular drug and therefore is neither benign nor pathogenic.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
Medical genetic ethics is a field in which the ethics of medical genetics is evaluated. Like the other field of medicine, medical genetics also face ethical issues.
Harvey Louis Levy is an American biochemical geneticist, pediatrician, physician scientist and academic. He is Senior Physician in Medicine and Genetics at Boston Children’s Hospital and Professor of Pediatrics at Harvard Medical School.
The Human Genetics Society of Australasia (HGSA) is a membership organization for individuals in the field of human genetics who primarily practise in the Oceania region. Members typically hold both a qualification in human genetics and work in the field. Membership is drawn from clinical, laboratory and academic specialties. Members include clinical geneticists; genetic counsellors; laboratory scientists ; and academics.
The Association for Molecular Pathology is a professional association of individuals serving patients through molecular diagnostics testing. Founded in 1995, the Association has more than 2,800 members in over 50 countries.
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