Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-134-006
Topic: BRCA Ashkenazi Jewish Founder Mutation Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Four (4) types of BRCA testing are available. Each may be appropriate for different clinical situations.

Ashkenazi Jewish founder mutation testing includes the three (3) mutations most commonly found in the Ashkenazi Jewish population: 187delAG and 5385insC in BRCA1 and 6174delT in BRCA2.

  • Testing for these three (3) most common mutations detects about 98% of mutations in those with Ashkenazi Jewish ancestry.
  • This test is appropriate for those who meet criteria AND have Ashkenazi Jewish ancestry.

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

BRCA Ashkenazi Jewish Founder Mutation genetic testing may be considered medically necessary when the following criteria are met:

*First-degree relatives (parents, siblings, children); second-degree relatives (aunts, uncles, grandparents, grandchildren, nieces, nephews and half-siblings); and third degree relatives (great-grandparents, great-aunts, great-uncles, and first cousins) on the same side of the family.

** Note: Full gene sequencing of BRCA1/2 is authorized if no founder mutations are detected by 81212 and the individual meets the criteria above.

Testing of unaffected individuals should only be considered when an affected family member is unavailable for testing due to the significant limitations in interpreting a negative result.

Procedure Codes

Professional Statements and Societal Positions


  • The National Comprehensive Cancer Network (NCCN, 2017) evidence and consensus-based guidelines include unaffected women with a family history of cancer, those with a known mutation in the family, those with a personal history of breast cancer and/or ovarian cancer, those with a personal history of pancreatic and/or prostate (Gleason score at least 7) cancer, and men with breast cancer.  
    • Based on these guidelines, and the recommendations of the National Society of Genetic Counselors (2013) the founder mutation analysis is appropriate for any individual with Ashkenazi Jewish ancestry with a personal history of breast, epithelial ovarian, fallopian tube, primary peritoneal, or pancreatic cancer. When there is a personal history of prostate cancer (Gleason score at least 7), additional family history of hereditary breast ovarian cancer syndrome related cancers is required.
    •  These recommendations are Category 2A, defined as lower-level evidence with uniform NCCN consensus.
  • The U.S. Preventive Services Task Force (USPSTF, 2013) recommendations address women who do not have a personal history of breast and/or ovarian cancer, but rather have a family history of these cancer types.
  • The USPSTF guideline recommends that primary care providers identify women who have a family history of breast, ovarian, fallopian tube, or peritoneal cancer with one of several screening tools. These tools are designed to identify woman who may be at an increased risk to carry a BRCA mutation. Women identified as high risk should then be referred for genetic counseling and, if indicated after counseling, BRCA testing.
  • Women identified as high risk by these screening tools typically have one (1) or more of the following characteristics:
    • A first or second degree relative with breast cancer before 50 years old
    • A first or second degree relative with ovarian cancer
    • A first or second degree relative with bilateral/multifocal breast cancer
    • A first or second degree male relative with breast cancer
    • A first or second degree relative with both breast and ovarian cancers
    • Two (2) or more relatives (first, second, third degree) with breast and/or ovarian cancer
    • Two (2) or more relatives (first, second, third degree) with breast and/or prostate/pancreatic cancer
    • Presence of Ashkenazi Jewish ancestry with any of the above
    • The USPSTF considers this a Grade B recommendation: The USPSTF found at least fair evidence that [the service] improves important health outcomes and concludes that benefits outweigh harms.

Place of Service: Outpatient

BRCA Ashkenazi Jewish Founder Mutation testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.

The policy position applies to all commercial lines of business

Denial Statements

Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.


Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

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The Claims Administrator/Insurer complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex. The Claims Administrator/Insurer does not exclude people or treat them differently because of race, color, national origin, age, disability, or sex. The Claims Administrator/ Insurer: If you need these services, contact the Civil Rights Coordinator.

If you believe that the Claims Administrator/Insurer has failed to provide these services or discriminated in another way on the basis of race, color, national origin, age, disability, or sex, you can file a grievance with: Civil Rights Coordinator, P.O. Box 22492, Pittsburgh, PA 15222, Phone: 1-866-286-8295, TTY: 711, Fax: 412-544-2475, email: CivilRightsCoordinator@highmarkhealth.org. You can file a grievance in person or by mail, fax, or email. If you need help filing a grievance, the Civil Rights Coordinator is available to help you.

You can also file a civil rights complaint with the U.S. Department of Health and Human Services, Office for Civil Rights electronically through the Office for Civil Rights Complaint Portal, available at https://ocrportal.hhs.gov/ocr/portal/lobby.jsf, or by mail or phone at:

U.S. Department of Health and Human Services
200 Independence Avenue, SW
Room 509F, HHH Building
Washington, D.C. 20201
1-800-368-1019, 800-537-7697 (TDD)

Complaint forms are available at http://www.hhs.gov/ocr/office/file/index.html.

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