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What are the benefits of genetic testing?


What are the benefits of genetic testing?

Genetic testing has potential benefits regardless of whether the result of a gene mutation is positive or negative. Test results can provide relief from uncertainty and help people make informed decisions about managing their healthcare. For example, in some cases, a negative result can eliminate the need for unnecessary tests and screening tests. A positive result can guide a person to choose the available prevention, monitoring and treatment options. Some test results can also help people make decisions about having children. Newborn screening can detect genetic disorders early in life, so treatment can be started earlier.


How does genetic testing in a research setting differ from clinical genetic testing?

The main difference between clinical genetic testing and research testing is the purpose of the test and who receives the results. The goals of research testing include discovering unknown genes, understanding how genes work, developing tests for future clinical applications, and advancing our understanding of genetic conditions. The results of tests performed as part of a research study are generally not provided to patients or their healthcare providers. On the other hand, clinical testing is done to understand the genetic disorder in an individual patient or family. People receive the results of clinical tests and can use them to help them make decisions about health care or reproductive issues.


For people considering genetic testing, it is important to know whether the test is available for clinical or research use. Both clinical and research testing involve a process of informed consent, during which the patient learns about the testing procedure, the risks and benefits of the test, and the potential consequences of the test.


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