Genetic screening

Genetic screening 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.

Overview

Genetic screening is a systematic search for persons with a specific genotype. These can be relatives of persons with known genetic disorders, or individuals in the general population who are members of ethnic groups with a high incidence of specific genetic disorders.

Types of Genetic Screening

There are several types of genetic screening, including:

• Newborn screening: Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.
• Diagnostic testing: Genetic testing is used to confirm or rule out a known or suspected genetic disorder in a symptomatic individual.
• Carrier testing: Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
• Prenatal testing: Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth.
• Preimplantation testing: Also called preimplantation genetic diagnosis (PGD), this test is used to reduce the risk of passing on a genetic disorder to the child.

Benefits and Risks

The benefits of genetic screening include the opportunity to make informed decisions about healthcare and lifestyle, the chance to manage the risks associated with certain genetic conditions, and the ability to plan for the future. However, there are also risks, including the potential for false-positive or false-negative results, the emotional impact of test results, and the potential for discrimination or stigmatization.

Ethical Considerations

Ethical considerations in genetic screening include issues of privacy and confidentiality, the potential for discrimination or stigmatization, and the need for informed consent.

See Also

• Genetic testing
• Genetic disorders
• Genetic counseling
• Genomics
• Human genetics

References

Genetic screening Resources
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