Genetic variance
Genetic Testing 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.
Types of Genetic Testing[edit | edit source]
There are several types of genetic testing:
- Diagnostic Testing: Used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms.
- Predictive and Pre-symptomatic Testing: Used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing.
- Carrier Testing: Used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
- Prenatal Testing: Used to detect changes in a fetus's genes or chromosomes before birth.
- Newborn Screening: Used just after birth to identify genetic disorders that can be treated early in life.
Benefits and Risks of Genetic Testing[edit | edit source]
The potential benefits of genetic testing include a better understanding of one's genetic risk for a specific disease, the ability to make informed decisions about managing health care, and the chance to participate in medical research that could lead to new treatments or cures.
However, genetic testing also has potential risks and limitations. These include emotional, social, and financial impacts of test results, and potential uncertainty of results.
Ethical, Legal, and Social Implications[edit | edit source]
Genetic testing raises many ethical, legal, and social issues. These include issues of privacy, confidentiality, decision-making, and responsibility for the consequences of genetic information.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
