genetic screening

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genetic screening testing for genetic disorders. Most commonly, prospective parents or an embryo or fetus is tested when a specific genetic disorder is suspected (e.g., Tay-Sachs or sickle cell disease ). In such a case, genetic screening begins with a complete medical history of both parents. If the parents decide to conceive or have already conceived, diagnostic tests, such as chorionic villus sampling and amniocentesis , can be performed on the fetus to detect various genetic disorders. In the case of a positive finding, the parents can elect to abort the fetus. Embryo biopsy , another diagnostic test, can be used on an embryo conceived by in vitro fertilization to determine if the embryo is free of certain genetic diseases before it is implanted in the uterus. As researchers identify more genetic markers for diseases and develop blood tests for them, concern has arisen over the use of such tests to deny people health and life insurance, employment, and the like. A 1993 National Academy of Sciences report called for the establishment of ethical guidelines on the use of genetic screening, and in 1995 the Equal Employment Opportunity Commission said that the use of genetic screening to deny employment could violate the Americans with Disabilities Act. The Genetic Information Nondiscrimination Act, passed in 2008, bars an employer or insurance company from discriminating against a person based on a personal or familial genetic predisposition to a disease or condition.

See also eugenics .

Bibliography: See G. Evars-Kiebooms, Genetic Risk, Risk Perception, and Decision (1987).

genetic screening The process by which the genome of a human or other organism is analysed for genetic markers (see marker gene) that indicate the presence of particular genes, especially ones that cause or predispose to certain diseases. Increased knowledge of the human genome (see Human Genome Project) and technological advances have simplified genetic screening in persons with a family history of certain inherited diseases, e.g. certain forms of breast cancer. Clinical gene testing is now used routinely to screen for many different genes, either to assess the risk of disease in susceptible individuals or their offspring or to confirm a diagnosis of inherited disease. Commercial gene test kits are also available to the general population, although claims that these can determine the risk of healthy individuals developing, say, heart disease or cancer should be treated with caution. Such tests have major implications for the insurance industry as well as for medicine. For example, some healthy individuals may be expected to pay a higher premium for life insurance because genetic screening reveals the presence of such genes. See also preimplantation genetic diagnosis.

genetic screening n. screening tests to discover individuals whose genotypes are associated with specific diseases. Such individuals may later develop the disease itself or pass it on to their children (see carrier).
www.parliament.uk/documents/upload/POSTpn227.pdf Overview of the principles of genetic testing from the Houses of Parliament website