Genetic Testing > What is Genetic Testing?
Genetic testing for inherited mutations
Genetic testing for an inherited mutation (also called "germline genetic testing") looks at DNA found in blood or saliva samples to find mutations that can cause diseases such as cancer.
Genetic testing can help people understand their risk for cancer, help them make medical decisions, and take steps to lower their cancer risk or detect cancer early. For people already diagnosed with cancer, genetic testing can help people make medical decisions about how to best treat their cancer.
Visit these sections for information on:
- FORCE glossary of terms.
- FORCE XRAY program Genetic Testing category
- Genetics Home Reference is a site from the U.S. Library of Medicine that provides consumer-friendly information about the effects of genes on human health.
- In the Family: Developed by Kartemquin Films, the producers of the documentary In The Family, this website has links to articles and resources of interest to anyone concerned about hereditary breast and ovarian cancer
- National Human Genome Project: NHGRI is the division of the National Institute of Health (NIH) which focuses on research and resources related to genetics. The website contains links to a wide array of research and educational materials focused on genetics.
- National Cancer Institute's section on genetic testing. This section on the National Cancer Institute website has information on genetic testing for inherited cancers.
- Talking Glossary of Genetic Terms produced by the National Human Genome Research Institute.
Insurance coverage of genetic testing
The majority of public and private health insurance plans cover genetic counseling, and if appropriate, genetic testing for people who have specific personal and/or family histories of cancer. Copays, coinsurance and deductibles may apply. Visit our section on Insurance and Paying for Care: Genetic Counseling and Testing for more information.
Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation:
The following clinical trials include genetic counseling and testing:
- NCT03762590: GENetic Education Risk Assessment and TEsting Study (GENERATE) is for untested relatives of people diagnosed with pancreatic cancer who have an inherited mutation
- A Study in Hereditary Breast and Ovarian Cancer Families to Provide Men With Up-To-Date Information About the Personal Importance of Genetic Testing (GEM) is for men from families in which a BRCA1/2 gene mutation has been identified.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- PHACT Study: Population Health and Cancer Testing offers genetic testing to women and men of Ashkenazi (Eastern European) Jewish ancestry, age 21 or older.
Visit our Research Search and Enroll Tool to find other studies that include genetic counseling and/or testing as part of the study.