Hereditary Cancer and Genetic Testing

Guidelines for genetic testing in people diagnosed with breast cancer

Up to 10% of people diagnosed with breast cancer have an inherited mutation that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an inherited mutation linked to cancer.

Genetic testing for women diagnosed with breast cancer

All women diagnosed with breast cancer at age 45 or younger would benefit from genetic counseling and testing. 

Women diagnosed with breast cancer between ages 46-50 would benefit from genetic counseling and testing if they have any of the following: 

  • a small family.
  • unknown family history.
  • cancer in both breasts or a second breast cancer in the same breast.
  • 1 or more first-, second- or third-degree relative who have been diagnosed with any of the following:
    • ovarian cancer.
    • breast cancer. 
    • male breast cancer.
    • pancreatic cancer.
    • prostate cancer.

Women are likely to benefit from genetic counseling and testing if they were diagnosed with breast cancer at any age and have any of the following:

  • triple-negative breast cancer.
  • a relative who has tested positive for an inherited mutation associated with cancer.
  • Eastern European (Ashkenazi) Jewish ancestry. 
  • A diagnosis of ovarian cancer.
  • 1 or more first-, second- or third-degree relative who have been diagnosed with any of the following:
    • ovarian cancer.
    • breast cancer before age 50.
    • male breast cancer.
    • pancreatic cancer.
    • metastatic prostate cancer.
  • 2 or more first-, second- or third-degree relatives with breast cancer or prostate cancer at any age.
  • 3 or more separate diagnoses of breast cancer in patient and/or close relatives combined.
  • lobular breast cancer with a personal or family history of diffuse gastric cancer.
  • metastatic breast cancer to determine eligibility for treatment with the targeted therapies Lynparza or Talzenna.
  • early stage breast cancer at high risk for recurrence to determine eligibility for maintenance therapy with the targeted therapy Lynparza.

Women with the following are unlikely to have an inherited gene mutation:

  • Diagnosed with breast cancer after 65 who have:
    • no prior history of breast, ovarian or pancreatic cancer.
    • no first-,second-, or third-degree relative who was diagnosed with breast, ovarian, pancreatic or prostate cancer.  
    • no Eastern European Jewish ancestry.

Genetic testing for men diagnosed with breast cancer

All men with breast cancer meet national guidelines for genetic counseling and/or testing, regardless of age at diagnosis.

Other people who may benefit from genetic counseling and testing

You may benefit from additional genetic counseling and expanded genetic testing if you had genetic testing in the past, you tested negative, and the following applies to you:

  • your situation matches any of the above, and
    • you had a test that only looked for one or a few genes, or 
    • you had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.

Breast cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them. 

Genetic testing for relatives of people who have been diagnosed with breast cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who meets the criteria listed above. 

See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information. 


Health care providers who are specially trained in genetics can help you more clearly understand your risk for hereditary cancer. The following resources can help you locate a genetics expert in your area.

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • JScreen is a program from Emory University that provides low-cost genetic counseling and testing. 
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704, can connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and hereditary cancer and help you find a genetic counselor near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 

updated: 11/12/2021


If you have been diagnosed with breast cancer and you are considering genetic testing, you can find peer support through the following resources:



Insurance coverage for genetic testing

Most insurance plans cover the cost of genetic counseling and testing for inherited gene mutations linked to cancer in people diagnosed with cancer who meet the national guidelines. The cost of testing and your out-of-pocket charges will vary based on several factors:

  • which laboratory performs the test
  • whether a previously-identified mutation exists in the family
  • which gene mutations are included in the test

People who are denied coverage for genetic testing by their health plan are encouraged to file an appeal. Your health care provider can work with your insurance company to assure that you receive the services you need while minimizing the costs to you, and help you appeal if your insurance company denies these services. If your insurance denies your appeal, low cost testing may still be available for $250 or less.

Genetic testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies are required to pay for both genetic counseling and BRCA testing with no out-of-pocket costs for women who meet certain criteria. Unfortunately, the ACA regulations are limited to testing for BRCA1 and BRCA2 and do not cover genetic counseling or testing in the following situations:

  • people who do not meet United States Preventive Services Task Force (USPSTF) guidelines
  • genetic testing for people in active treatment for cancer
  • people with a personal or family history consistent with Lynch syndrome (associated with colon, uterine, and other cancers) or other cancers besides breast and ovarian cancer
  • genetic counseling and testing in men
  • panel testing or testing for any genes outside of BRCA1 and BRCA2
  • most risk-management services such as increased surveillance and prophylactic surgery 

Medicare coverage of genetic testing

Hereditary cancer genetic counseling and testing is covered by Medicare under certain conditions for people already diagnosed with cancer who have:

  • recurrent, relapsed, refractory, metastatic, or advanced stage III or IV cancer; and,
  • not previously tested using the same genetic test for the same cancer diagnosis (repeat testing using the same genetic test is covered only when a new primary cancer diagnosis is made); and,
  • decided to seek further cancer treatment (e.g., chemotherapy).

The laboratory/genetic test must have:

  • Food & Drug Administration (FDA) approval or clearance as a companion diagnostic; and,
  • an FDA-approved or -cleared drug/treatment for use in the patient’s cancer; and,
  • results provided to the physician for management of the patient’s cancer using a report that specifies treatment options

There may be some exceptions to the above policy to allow for genetic testing of people with earlier stage cancers. 

Medicaid coverage of genetic testing

Most state Medicaid programs cover genetic testing for BRCA and Lynch Syndrome mutations for people who meet certain requirements. Testing requirements vary by state. 

Financial assistance or low cost genetic testing

Many laboratories offer low-cost genetic testing or financial assistance programs. Different labs have different criteria, so if you are not eligible for assistance through one laboratory, you might consider contacting other labs to see if you qualify for any financial assistance program.   

Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation: 

updated: 01/11/2022


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 Genetic Counseling and Testing for more information.  

Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation: 

Last updated August 31, 2021