Genetic screening

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Genetic Screening

Genetic screening (pronunciation: /dʒɪˈnɛtɪk ˈskriːnɪŋ/) is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

Etymology

The term "genetic screening" is derived from the English words "genetic", meaning related to genes, and "screening", meaning to test or examine for the presence of something. The term was first used in the late 20th century with the advancement of medical technology.

Related Terms

  • Genetic Disorder: A disease caused by abnormalities in an individual's genetic material.
  • Genome: The complete set of genes or genetic material present in a cell or organism.
  • Chromosome: A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
  • Protein: A molecule composed of polymers of amino acids joined together by peptide bonds.
  • Gene: A unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring.

Process

Genetic screening involves the testing of a population group to identify individuals at high risk of having or passing on a specific genetic disorder. The process includes newborn screening, carrier screening, prenatal screening, and adult screening.

  • Newborn Screening: A preventive health measure to identify genetic disorders in newborn babies.
  • Carrier Screening: A type of genetic test that can tell you whether you carry a gene for certain genetic disorders.
  • Prenatal Screening: Tests done during pregnancy to determine if a fetus is at risk for certain genetic disorders.
  • Adult Screening: Genetic testing in adults to identify genetic disorders that may not become apparent until adulthood.

Benefits and Risks

Genetic screening has both benefits and risks. Benefits include the ability to make informed decisions about healthcare and lifestyle, and the opportunity to participate in clinical trials for new treatments. Risks include psychological impact, the potential for discrimination or stigmatization, and the possibility of false-positive or false-negative results.

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