National Institutes of Health
- The primary NIH organization for research on Genetic Testing is the National Human Genome Research Institute
A service of the U.S. National Library of Medicine 
National Institutes of Health
Genetic Testing
Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include
- Finding genetic diseases in unborn babies
- Finding out if people carry a gene for a disease and might pass it on to their children
- Screening embryos for disease
- Testing for genetic diseases in adults before they cause symptoms
- Making a diagnosis in a person who has disease symptoms
- Figuring out the type or dose of a medicine that is best for a certain person
People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.
NIH: National Human Genome Research Institute
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Start Here
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Frequently Asked Questions about Genetic Testing(National Human Genome Research Institute)
- Genetic Testing: What You Should Know(American Academy of Family Physicians)
- Also available in Spanish
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Genetics Home Reference: What is genetic testing?(National Library of Medicine)
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Frequently Asked Questions about Genetic Testing
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Overviews
- Genetic Testing(Mayo Foundation for Medical Education and Research)
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Genetic Testing(National Human Genome Research Institute)
- Genetic Testing (For Parents)(Nemours Foundation)
- Also available in Spanish
- Universe of Genetic Testing(American Association for Clinical Chemistry)
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Latest News
- Gene-Based Blood Test Might Help Spot Colon Cancer(06/07/2013, HealthDay)
- Gene Test May Help Predict Success of Weight-Loss Surgery(05/02/2013, HealthDay)
- Breast Cancer Gene Tests Won't Help Most Women(04/01/2013, HealthDay)
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Specific Conditions
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BRCA1 and BRCA2: Cancer Risk and Genetic Testing(National Cancer Institute)
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Genetic Testing for Hereditary Cancer Syndromes(National Cancer Institute)
- Genetic Testing for Hereditary Colorectal Cancer(Centers for Disease Control and Prevention)
- Also available in Spanish
- Parentage Testing(American Association for Clinical Chemistry)
- What Is Carrier Screening?(Genetic Alliance)
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BRCA1 and BRCA2: Cancer Risk and Genetic Testing
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Related Issues
- ACMG Statement on Direct-to-Consumer Genetic Testing(American College of Medical Genetics)
- At-Home Genetic Tests(Federal Trade Commission)
- Also available in Spanish
- At-Home Genetic Tests: What You Should Know(March of Dimes Birth Defects Foundation)
- Also available in Spanish
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Genetics Home Reference(National Library of Medicine)
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How Is Genetic Testing Done?(National Library of Medicine)
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Looking at My Genes: What Can They Tell Me?(National Institute of Mental Health)
- Personalized Medicine and Pharmacogenomics(Mayo Foundation for Medical Education and Research)
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Studying Genes(National Institute of General Medical Sciences)
- Tests Purchased from Four Web Sites Mislead Consumers(Government Accountability Office)
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Understanding Cancer Series: Gene Testing(National Cancer Institute)
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Uses of Genetic Testing(National Center for Biotechnology Information)
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What Is Direct-to-Consumer Genetic Testing?(National Library of Medicine)
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Financial Issues
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Coverage and Reimbursement of Genetic Tests(National Human Genome Research Institute)
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Coverage and Reimbursement of Genetic Tests
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Clinical Trials
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ClinicalTrials.gov: Genetic Testing(National Institutes of Health)
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ClinicalTrials.gov: Genetic Testing
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Research
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Genetic Mapping(National Human Genome Research Institute)
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Genetic Testing: How It Is Used for Healthcare(National Human Genome Research Institute)
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Interpreting Risk: Direct-to-Consumer Genetic Testing(National Cancer Institute)
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Genetic Mapping
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
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Dictionaries/Glossaries
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Glossary(National Center for Biotechnology Information)
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Talking Glossary of Genetic Terms(National Human Genome Research Institute)
- Also available in Spanish
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Glossary
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Directories
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Cancer Genetics Services Directory(National Cancer Institute)
- Gene Tests Clinic Directory Search(University of Washington)
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Genetic and Rare Diseases Information Center(Office of Rare Diseases)
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Cancer Genetics Services Directory
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Organizations
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Newsletters/Print Publications
- Genomics and Health Impact Update(Centers for Disease Control and Prevention)
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Law and Policy
- Direct-to-Consumer Genetic Testing: Empowering or Endangering the Public?(Genetics and Public Policy Center)
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Genetic Information Nondiscrimination Act of 2008(National Human Genome Research Institute)
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Genome Statute and Legislation Database(National Human Genome Research Institute)
- Surreptitious DNA Testing(Genetics and Public Policy Center)
- Who Regulates Genetic Tests?(Genetics and Public Policy Center)
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MedlinePlus Magazine
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Children
- What Is a Pediatric Geneticist?(American Academy of Pediatrics)
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Patient Handouts
- Genetic Testing: What It Means for Your Health and Your Family's Health(National Cancer Institute) - PDF
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You may also be interested in these related encyclopedia pages:
MEDICAL ENCYCLOPEDIA
