Diagnostic testing is the situation where an individual is suspected of having a particular condition and a specific gene/s is/are tested to look for disease causing mutations. This can confirm the clinical diagnosis for the patient.
Genetic testing holds great potential for the future of medical care. It offers many benefits, including providing important information that can be used when making decisions about having a family and taking care of one’s own health. However, there are also limitations. For this reason, it is important to understand the nature of genetic testing and the information that it can and can’t provide. For example:
Because of these limitations, genetic test results can be a mixed blessing. An absolutely essential component of clinical genetics testing is giving your informed consent to do the tests and knowing what you want to do with the results of these tests. Know your legal rights as well. Make certain that your privacy is respected. Educate yourself about genetic tests, and talk to your medical provider if you think you should have genetic testing performed. This is especially important as more genetic testing becomes available directly to consumers.