Chapter 6
Genetic Testing
What is genetic testing?
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.
Genetic testing is voluntary. Because testing has both benefits and limitations, the decision about whether to be tested is a personal and complex one. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
For general information about genetic testing:
MedlinePlus offers a list of links to information about genetic testing (http://www.nlm.nih.gov/medlineplus/genetictesting.html).
The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing (http://www.genome.gov/ 19516567). Additional information about genetic testing legislation, policy, and oversight (http://www.genome.gov/10002335) is available from the Institute.
The National Institutes of Heath fact sheets Genetic Testing: What It Means for Your Health and for Your Family's Heath (http://www.genome.gov/Pages/Health/ PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf) and Genetic Testing: How it is Used for Healthcare (http://www.nih.gov/about/ researchresultsforthepublic/genetictesting.pdf) each provide a brief overview for people considering genetic testing.
The Genetics and Public Policy Center also offers information about genetic testing (http://www.dnapolicy.org/science.gt.php).
You can also search for clinical trials involving genetic testing. ClinicalTrials.gov (http://clinicaltrials.gov/), a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of studies related to genetic testing (http://clinicaltrials.gov/search?term=%22genetic+testing%22) that are accepting (or will accept) participants.