The U.S. Preventive Services Task Force (USPSTF) recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.
The Centers for Disease Control and Prevention (CDC) states:- A genetic counselor can help determine the best testing plan for an individual and their family. Whenever possible, the first person tested in the family should be someone who has had breast, ovarian, or another BRCA-related cancer. Usually, genetic testing is recommended for individuals with:
- A strong family health history of breast and ovarian cancers.
- A moderate family health history of breast and ovarian cancers and are of Ashkenazi or Eastern European Jewish ancestry.
- A personal history of breast cancer and meet certain criteria related to age of diagnosis, type of cancer, presence of certain other cancers or cancer in both breasts, ancestry, and family health history.
- A personal history of ovarian, fallopian tube, or primary peritoneal cancer.
- A known mutation in the breast cancer (BRCA) genes in someone in the family.
- Genetic testing is recommended for individuals who have had colorectal (colon) or uterine (endometrial) cancer and have abnormal tumor screening results. A genetic counselor or other health care provider may recommend genetic testing based on personal and family history of cancer and whether a patient has a family member with Lynch syndrome.
There are currently no U.S. Federal guidelines on tumor molecular profiling to guide cancer treatment. According to the National Cancer Institute (NCI), patients should talk with their health care provider to discuss whether biomarker testing for cancer treatment should be part of their care. Doctors usually suggest genomic biomarker testing (also called tumor molecular profiling) for people with cancer that has spread or come back after treatment. Biomarker testing is also done routinely to select treatment for people who are diagnosed with certain types of cancer—including non-small cell lung cancer, breast cancer, and colorectal cancer.
NCI has Genetic Testing for Inherited Cancer Risk and Biomarker Testing for Cancer Treatment fact sheets that help answer common questions in plain language.
Additional evidence can be found in the Cancer Trends Progress Report: Genetic Testing
.