Genetic Testing

On this page

Basics

• Summary
• Start Here
• Latest News

Learn More

• Related Issues
• Specifics

See, Play and Learn

• No links available

Research

• Statistics and Research
• Clinical Trials
• Journal Articles

Resources

• Reference Desk
• Find an Expert

For You

• Patient Handouts

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

Latest News

• A More Accurate Predictor for Alzheimer'S? (09/29/2017, HealthDay)
• Genetic Testing May Help Make Blood Thinner Safer (09/26/2017, HealthDay)

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)
• 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)
• Whole Genome Sequencing (Genetic Alliance)

Specifics

• 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)
• Pharmacogenomic Testing (Genetic Alliance)
• Predictive Testing (Genetic Alliance)
• 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
• Tests Related to Pregnancy (Genetic Alliance)
• What Are the Types of Genetic Tests? (National Library of Medicine)
• What Is Carrier Screening? (Genetic Alliance)
• What Is Diagnostic Testing? (Genetic Alliance)
• What Is Genetic Ancestry Testing? (National Library of Medicine)

Statistics and Research

• Detecting Rare Disease-Causing Glitches (National Institutes of Health)
• Genetic Mapping (National Human Genome Research Institute) Also in Spanish

Clinical Trials

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

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

• Article: Practice Bulletin No. 187: Neural Tube Defects.
• Article: Congenital Heart Disease and Neurodevelopment: Clinical Manifestations, Genetics, Mechanisms, and...
• Article: How Does Imaging of Congenital Zika Compare with Imaging of...
• Genetic Testing -- see more articles

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

Find an Expert

• Cancer Genetics Services Directory (National Cancer Institute)
• Centers for Disease Control and Prevention Also in Spanish
• Genetic Alliance
• Genetic and Rare Diseases Information Center
• National Human Genome Research Institute

Patient Handouts

• BRCA1 and BRCA2 gene testing (Medical Encyclopedia) Also in Spanish
• Genetic testing and your cancer risk (Medical Encyclopedia) Also in Spanish
• Genetic Testing: What It Means for Your Health and Your Family's Health (National Institutes of Health) - PDF