Medical Policy: 02.04.74
Original Effective Date: August 2018
Reviewed: August 2020
Revised: August 2020
This policy contains information which is clinical in nature. The policy is not medical advice. The information in this policy is used by Wellmark to make determinations whether medical treatment is covered under the terms of a Wellmark member's health benefit plan. Physicians and other health care providers are responsible for medical advice and treatment. If you have specific health care needs, you should consult an appropriate health care professional. If you would like to request an accessible version of this document, please contact customer service at 800-524-9242.
Benefit determinations are based on the applicable contract language in effect at the time the services were rendered. Exclusions, limitations or exceptions may apply. Benefits may vary based on contract, and individual member benefits must be verified. Wellmark determines medical necessity only if the benefit exists and no contract exclusions are applicable. This medical policy may not apply to FEP. Benefits are determined by the Federal Employee Program.
This Medical Policy document describes the status of medical technology at the time the document was developed. Since that time, new technology may have emerged or new medical literature may have been published. This Medical Policy will be reviewed regularly and be updated as scientific and medical literature becomes available.
This policy focuses on testing of BRCA mutation status. This testing may be completed as a test for cancer susceptibility or in tumor/tissue of an individual with a current cancer diagnosis.
BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of each cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
Harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person’s individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2. Genetic testing is only recommended for people with a high risk of having a BRCA mutation.
Risk scales used to determine need for genetic testing:
Ontario Family History Assessment Tool
Risk Factor Points
Breast and ovarian cancer
Second-/third-degree relative 5
Breast cancer relatives
Second-/third-degree relative 2
Male relative (add to above) 2
Breast cancer characteristics
Onset age, y
Ovarian cancer relatives
Second-/third-degree relative 3
Ovarian cancer onset age, y
Prostate cancer onset
Age <50 y 1
Colon cancer onset
Age <50 y 1
Referral Screening Tool
(referral if 2 or more)
History of Breast or Ovarian Cancer in the Family? If Yes, Complete Checklist
Risk Factor Breast Cancer at Age ≤50 y Ovarian Cancer at any Age
≥2 cases of breast cancer after age 50 y on same side of family
Male breast cancer at any age in any relative
Pedigree Assessment Tool
(score 8 or greater is the optimal referral threshold)
Risk Factor Score for Every Family Member with Breast or Ovarian Cancer Diagnosis, Including Second-/Third-Degree Relatives
Breast cancer at age ≥50 y 3
Breast cancer at age <50 y 4
Ovarian cancer at any age 5
Male breast cancer at any age 8
Ashkenazi Jewish heritage 4
Total (score 8 or greater is the optimal referral threshold)
Seven-Question Family History Screening
(One positive response initiates referral)
International Breast Cancer Intervention Study Model (also known as Tyrer-Cuzick)
(Referral for genetic testing if the personal risk level for a mutation in breast cancer susceptibility gene 1 or 2 is 10% or greater)
National Comprehensive Cancer Network (NCCN) guidelines present specific criteria for genetic testing for hereditary breast and/or ovarian cancer syndrome. The guidelines address genetic risk assessment, counseling, testing and management based on test results.
The current National Comprehensive Cancer Network (NCCN) guideline (Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 3.2019) states that a male warrants genetic counseling and to consider genetic testing if he has metastatic prostate cancer or prostate cancer (any grade) with the following: (1) at least one close blood relative with ovarian cancer or breast cancer at age 50 or younger, or (2) at least two relatives with breast, ovarian, or prostate cancers (Gleason 7 or higher) at any age. Testing with a diagnosis of non-metastatic or intraductal prostate cancer without the family history component is not recommended.
The current National Comprehensive Cancer Network (NCCN) guideline Pancreatic Adenocarcinoma (Version 1.2020) recommends specific regimens based on BRCA 1/2 mutations. Poly (ADP-ribose) polymerase (PARP) inhibitor therapy: The NCCN guideline for pancreatic adenocarcinoma considers the use of olaparib as maintenance therapy for individuals with a germline BRCA 1/2 mutation, with no progression of disease after at least 4-6 months of chemotherapy, assuming acceptable tolerance
At this time no other NCCN guidelines recommend the genetic testing of BRCA1 or BRCA2 based on diagnosis alone.
An ASCO policy statement recommends that genetic testing for cancer susceptibility be performed when the following three criteria are met: the individual being tested has a personal or family history suggestive of genetic cancer susceptibility; the test can be adequately interpreted; and the test results have accepted clinical utility.
American Society of Breast Surgeons (2019): The Society published a consensus document regarding genetic testing for hereditary breast cancer. Recommendations include:
USPSTF guidelines recommend screening women with any family history of breast, ovarian, tubal, or peritoneal cancer. Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (Grade B Recommendation; Recommended). USPSTF recommends against routine genetic counseling or BRCA testing for those whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1or BRCA2 gene. (Grade D recommendation; Not recommended).
The USPSTF guidelines no longer make explicit recommendations as to who should have BRCA1/2 gene testing; they specifically make recommendations for genetic counseling. In general, women identified as high risk by these screening tools have one or more of the following characteristics:
Professional societies do not recommend that children under age 18, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2 This is because there are no risk-reduction strategies that are specifically meant for children, and children's risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low.
Numerous BRCA tests are available as listed below. To date, the U.S. Food and Drug Administration (FDA) has chosen not to require any regulatory review of these:
Prior Approval is required.
For additional information see the following policies.
For panel testing for inherited cancer susceptibility see policy: Expanded Genetic Panels to Identify Cancer Risk 02.04.64
For panel testing of an individual with a cancer diagnosis see policy: Expanded Genetic Panels to Identify Targeted Cancer Therapy 02.04.63
Genetic testing of BRCA1 and BRCA2 for breast cancer, ovarian cancers, hereditary breast and ovarian cancer syndrome (HBOC) or in those with Ashkenazi Jewish ethnicity is not addressed in this policy.
Hereditary breast and ovarian cancer (HBOC) is an inherited form of cancer characterized by:
Genetic Testing In Children
Genetic testing of BRCA in those under 18 years old is considered not medically necessary.
Genetic Testing outside of breast cancer, ovarian cancers, hereditary breast and ovarian cancer syndrome (HBOC) or in those with Ashkenazi Jewish ethnicity
Genetic testing for BRCA mutation/variants for all other indications not managed in breast/ovarian or HBOC cancer, including but not limited to the following, is considered investigational.
Further evidence is needed to establish the clinical utility of testing in populations outside of indications for breast cancer, ovarian cancers, fallopian tube cancer, pancreatic cancers, Ashkenazi Jewish ethnicity, primary peritoneal, metastatic prostate and HBOC risk. Tests are frequently conducted solely as informational; this will not alter medical management of the patient therefore testing currently lacks clinical utility and does not demonstrate improved net health outcomes. The outcome of the test must be expected to determine a covered course of treatment. Those with BRCA variants have an increased risk of prostate cancer, and patients with known BRCA variants may, therefore, consider more aggressive screening approaches for prostate cancer. However, the presence of non-metastatic prostate cancer in an individual, is not itself considered sufficient justification for BRCA testing. Frequently, the current health status in combination with family history determines the medical necessity of genetic testing.
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Wellmark medical policies address the complex issue of technology assessment of new and emerging treatments, devices, drugs, etc. They are developed to assist in administering plan benefits and constitute neither offers of coverage nor medical advice. Wellmark medical policies contain only a partial, general description of plan or program benefits and do not constitute a contract. Wellmark does not provide health care services and, therefore, cannot guarantee any results or outcomes. Participating providers are independent contractors in private practice and are neither employees nor agents of Wellmark or its affiliates. Treating providers are solely responsible for medical advice and treatment of members. Our medical policies may be updated and therefore are subject to change without notice.
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