What Can You Learn From Genetic Testing?

There are over 2,000 genetic tests available to diagnose diseases or help with prevention or treatment. Your doctor may suggest a genetic test to detect your risk of certain health problems. The results may can help you make life decisions such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

MEDICAL ENCYCLOPEDIA

National Institutes of Health

The primary NIH organization for research on Genetic Testing is theNational Human Genome Research Institute

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Summary

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

Start Here

Frequently Asked Questions about Genetic Testing (National Human Genome Research Institute)Also in Spanish
Genetic Testing (For Parents) (Nemours Foundation)
Genetic Testing: What You Should Know (American Academy of Family Physicians)Also in Spanish
Regulation of Genetic Tests (National Human Genome Research Institute)Also in Spanish

Related Issues

Direct-to-Consumer Genetic Tests (Federal Trade Commission)Also in Spanish
Genetics Home Reference (National Library of Medicine)
Genomic Testing (Centers for Disease Control and Prevention)
How Can Consumers Be Sure a Genetic Test Is Valid and Useful? (National Library of Medicine)
How Is Genetic Testing Done? (National Library of Medicine)
Personalized Medicine and Pharmacogenomics (Mayo Foundation for Medical Education and Research)Also in Spanish
Studying Genes (National Institute of General Medical Sciences)
What Are the Risks and Limitations of Genetic Testing? (National Library of Medicine)
What Do the Results of Genetic Tests Mean? (National Library of Medicine)
What Is a Pediatric Geneticist? (American Academy of Pediatrics)Also in Spanish
What Is Direct-to-Consumer Genetic Testing? (National Library of Medicine)

Specifics

BRCA Test (National Library of Medicine)Also in Spanish
BRCA1 and BRCA2 Mutations (American College of Obstetricians and Gynecologists) - PDF
BRCA1 and BRCA2: Cancer Risk and Genetic Testing (National Cancer Institute)Also in Spanish
Genetic Testing for Hereditary Cancer Syndromes (National Cancer Institute)
Genetic Testing for Hereditary Colorectal Cancer (Centers for Disease Control and Prevention)Also in Spanish
Genetic Testing for Inherited Heart Disease (American Heart Association)
Karyotype Genetic Test (National Library of Medicine)Also in Spanish
MTHFR Mutation Test (National Library of Medicine)Also in Spanish
Pharmacogenetic Tests (National Library of Medicine)Also in Spanish
Prenatal Genetic Diagnostic Tests (American College of Obstetricians and Gynecologists)
Prenatal Genetic Screening Tests (American College of Obstetricians and Gynecologists)
Prenatal Genetic Testing Chart (American College of Obstetricians and Gynecologists) - PDF
PTEN Genetic Test (National Library of Medicine)Also in Spanish
TP53 Genetic Test (National Library of Medicine)Also in Spanish
What Are the Types of Genetic Tests? (National Library of Medicine)
What Is Genetic Ancestry Testing? (National Library of Medicine)

Videos and Tutorials

Genetic Testing (College of American Pathologists)

Statistics and Research

Genetic Mapping (National Human Genome Research Institute)Also in Spanish

Clinical Trials

ClinicalTrials.gov: Genetic Testing (National Institutes of Health)

Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)

Reference Desk

Genetic Testing Registry (National Center for Biotechnology Information)
Genomics and Health Impact Update (Centers for Disease Control and Prevention)
Glossary (National Center for Biotechnology Information)
Talking Glossary of Genetic Terms (National Human Genome Research Institute)Also in Spanish