CurrentMassachusetts Executive Office of Health and Human ServicesPolicy N/A

Guidelines for Medical Necessity Determination for Genetic Testing for BRCA-related Breast and/or Ovarian Cancer

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This policy establishes MassHealth medical-necessity criteria, prior-authorization requirements, documentation requirements, and covered testing codes for germline BRCA1, BRCA2, and PALB2 testing for hereditary breast, ovarian, pancreatic, and prostate cancer risk.

Policy Summary

PayerMassachusetts Executive Office of Health and Human Services

PolicyBRCA-related hereditary cancer genetic testing

Policy CodePolicy N/A

Change TypeRevisedno material clinical or coverage change identified

Effective DateJune 25, 2025

Next Review DateN/A

Key ActionObtain prior authorization before requesting BRCA-related genetic testing.

SourceLink

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CurrentMassachusetts Executive Office of Health and Human ServicesPolicy N/A

Guidelines for Medical Necessity Determination for Genetic Testing for BRCA-related Breast and/or Ovarian Cancer

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Sign up for all Massachusetts Executive Office of Health and Human Services policy alerts

Know when Massachusetts Executive Office of Health and Human Services releases new policies or updates existing guidance.

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Policy Summary

PayerMassachusetts Executive Office of Health and Human Services

PolicyBRCA-related hereditary cancer genetic testing

Policy CodePolicy N/A

Change TypeRevisedno material clinical or coverage change identified

Effective DateJune 25, 2025

Next Review DateN/A

Key ActionObtain prior authorization before requesting BRCA-related genetic testing.

SourceLink

POLICY UPDATE CHANGES

The policy was revised and supersedes the policy dated February 10, 2023.

PA requiredAuthorization requirement

Once/lifetimeCovered frequency

18+Minimum age

BRCA1, BRCA2, PALB2Genes included

13Listed testing codes

Coverage Criteria

General Adult Coverage Requirements

MassHealth considers genetic testing for BRCA-related cancer medically necessary once per lifetime when ALL of the following general adult requirements are met and the member meets one of the qualifying categories below.

ALL of the following

The member is 18 years of age or older.
The results of genetic testing will be clinically useful and provide added value compared with not using the test in the clinical management of the member.
The member has given prior written consent for genetic testing in accordance with Massachusetts General Laws Chapter 111, Section 70G.
The member's personal and/or family cancer history suggests that an inherited pathogenic/likely pathogenic variant in BRCA1, BRCA2, or PALB2 may exist by meeting the criteria for Category I, II, III, or IV.

Category I — Family with a Known BRCA1, BRCA2, or PALB2 Variant

Coverage may be medically necessary for an unaffected adult when ALL of the following are met:

ALL of the following

The member has a first- or second-degree biological relative with a known BRCA1, BRCA2, or PALB2 pathogenic/likely pathogenic variant.
Testing is limited to single-site analysis for the known familial variant.
A recommendation for testing has been confirmed and the member has received appropriate genetic counseling.
Documentation of the known familial variant and the relationship of the carrier to the member is provided.

Category II — Individuals with Active Cancer or a Personal History of Cancer

Testing of BRCA1, BRCA2, and PALB2 variants, including large genomic rearrangement testing such as BART, may be medically necessary when the BRCA variant status is unknown, appropriate genetic counseling has occurred, and the member meets ALL applicable requirements below.

ALL of the following

The member has a personal history of breast cancer and meets at least one of the qualifying breast-cancer criteria below.
ONE or more breast-cancer criteria
- Lobular breast cancer diagnosed at any age with a personal or family history of diffuse gastric cancer.
- Triple-negative breast cancer (ER-, PR-, HER2-).
- Testing is required to aid a systemic treatment decision, including adjuvant treatment with olaparib for high-risk, HER2-negative breast cancer.

Category III — Individuals without a Personal History of BRCA-Related Cancers

Testing of an individual without a cancer diagnosis should be considered only when an appropriate family member is unavailable for testing. Testing may be medically necessary when ALL of the following are met:

ALL of the following

The member has no personal history of a BRCA-related cancer, including breast, ovarian, pancreatic, or prostate cancer.
An appropriate affected family member is unavailable for testing.
The treating provider has documented appropriate genetic counseling.
The treating provider has determined that the member is at high risk for a BRCA1, BRCA2, or PALB2 pathogenic/likely pathogenic variant through a prior-probability model, such as a validated quantitative risk-assessment tool endorsed by the U.S. Preventive Services Task Force (USPSTF).

Category IV — Adults Considering Treatment with a PARP Inhibitor

Testing may be medically necessary when the member is considering treatment with a PARP inhibitor and genetic test results are needed to guide treatment.

ALL of the following

The member is an adult considering treatment with a PARP inhibitor.
Testing is required to aid a systemic treatment decision or to determine whether treatment with a PARP inhibitor is appropriate.
The test results will guide a clinical treatment decision that would not otherwise be made in the absence of testing.

Category III: Individuals with No Personal History of Breast, Ovarian, Pancreatic, or Prostate Cancer

The clinical coverage category applies to adults with no personal history of breast, ovarian, pancreatic, or prostate cancer when the applicable Category III requirements are satisfied.

ALL of the following

The member has no personal history of breast, ovarian, pancreatic, or prostate cancer.
An appropriate affected family member is unavailable for testing.
The member is determined through a validated quantitative risk-assessment tool or other validated prior-probability model to be at high risk for a BRCA1, BRCA2, or PALB2 pathogenic/likely pathogenic variant.

Category IV: Adults Considering Treatment with a PARP Inhibitor

The clinical coverage category applies to adults considering treatment with a PARP inhibitor when genetic testing will affect treatment selection or management.

ALL of the following

The member is an adult considering treatment with a PARP inhibitor.
Testing is intended to impact treatment decisions.
The test results will guide a clinical decision that would not otherwise be made in the absence of testing.

MassHealth considers BRCA and PALB2 testing experimental and investigational for all other indications, including testing in men for surveillance; screening for breast or epithelial ovarian cancers; and assessment of risk of other cancers, such as colon cancer, because effectiveness for these indications has not been established.

Genetic testing for BRCA-related cancer is not recommended for children because no risk-reduction strategies for children exist, and because the risk of developing a cancer associated with a BRCA1, BRCA2, or PALB2 pathogenic/likely pathogenic variant during childhood is extremely low.

Genetic testing for BRCA-related cancer is not medically necessary when testing is performed primarily for the medical management of a family member.

Genetic testing for BRCA-related cancer is not medically necessary when the only indication is family history and clinical judgment indicates that the member does not have a reasonable likelihood of having a BRCA/PALB2 pathogenic/likely pathogenic variant, considering the member's current age and the age of female unaffected relatives who link the member with the affected relatives.

Repeat genetic testing for BRCA-related cancer is not medically necessary when the member has been previously tested.

Covered Indications

Unaffected adult with a first- or second-degree biological relative carrying a known BRCA1, BRCA2, or PALB2 pathogenic or likely pathogenic variant

Covered when all of the following are met:

Known familial variant testing: The individual is an unaffected adult with a first- or second-degree biological relative carrying a known BRCA1, BRCA2, or PALB2 pathogenic or likely pathogenic variant; testing is recommended; appropriate genetic counseling has occurred; and documentation of the familial variant and the carrier’s relationship to the member is submitted.First- or second-degree biological relative

Coverage is for single-site analysis of the known familial variant.

Cancer-affected individuals with unknown BRCA variant status

Testing may include BRCA1, BRCA2, PALB2, and large genomic rearrangement testing, including BART, when all baseline requirements and at least one qualifying indication are met.

Cancer-affected individual with unknown variant status: The member has active cancer or a personal history of cancer, BRCA variant status is unknown, and appropriate genetic counseling has occurred.

Eligibility Requirements

For known familial-variant testing, the member must be an unaffected adult with a first- or second-degree biological relative who has a known BRCA1, BRCA2, or PALB2 pathogenic or likely pathogenic variant. Appropriate genetic counseling must have occurred, testing must be recommended, and documentation of the familial variant and the carrier’s relationship to the member must be submitted. Testing is performed by single-site analysis for the known familial variant.

For an unaffected individual whose familial variant status is unknown, an appropriate affected family member must be unavailable for testing. The treating provider must document appropriate genetic counseling, and a validated quantitative risk-assessment tool endorsed by the USPSTF—or equivalent documented guidelines and risk factors—must establish high risk for a BRCA or PALB2 variant. Supporting documentation must include the risk assessment and positive-scoring responses or risk factors, together with a three-generation pedigree documenting affected family members.

Provider Actions and Documentation

Prior Authorization

Prior Authorization Required

Prior authorization is required for MassHealth coverage of genetic testing for BRCA-related cancer. MassHealth reviews each request for medical necessity; approval remains subject to member eligibility, other insurance, and all applicable program restrictions.

Documentation Required

Case-by-Case Medical-Necessity Review

MassHealth reviews requests individually based on clinical data and the relative risks and benefits of testing. For adults at high risk, the member must be at least 18, testing must be clinically useful, the member must provide written consent as required by Massachusetts law, and personal or family history must meet criteria for an eligible BRCA-related testing category.

The requested test must provide added clinical value compared with not testing.
The member must meet criteria for Category I, II, III, or IV testing, as applicable.

Covered Testing Codes

Covered CPT CodesCPTCovered

81162	BRCA1, BRCA2 gene analysis; full sequence analysis and full duplication/deletion analysis
81163	BRCA1, BRCA2 gene analysis; full sequence analysis
81164	BRCA1, BRCA2 gene analysis; full duplication/deletion analysis, including detection of large gene rearrangements
81165	BRCA1 gene analysis; full sequence analysis
81166	BRCA1 gene analysis; full duplication/deletion analysis, including detection of large gene rearrangements
81167	BRCA2 gene analysis; full duplication/deletion analysis, including detection of large gene rearrangements
81212	BRCA1, BRCA2 gene analysis for Ashkenazi Jewish descent founder mutations: 185delAG, 5385insC, and 6174delT variants
81215	BRCA1 gene analysis; known familial variant
81216	BRCA2 gene analysis; full sequence analysis
81217	BRCA2 gene analysis; known familial variant

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Clinical Background

Hereditary BRCA-related cancer is associated primarily with germline inherited pathogenic or likely pathogenic variants in BRCA1 and BRCA2. PALB2 is also implicated in hereditary breast cancer. These variants are associated with increased risks of breast, ovarian, fallopian-tube, peritoneal, pancreatic, prostate, and male breast cancers. Test selection depends on personal and family cancer history, ancestry, and whether a pathogenic or likely pathogenic familial variant has already been identified.

Definitions

Close blood relatives

DefinitionFirst-, second-, and third-degree relatives on the same side of the family.

First-degree relativesParents, siblings, and children.

Second-degree relativesHalf-brothers or sisters, aunts or uncles, grandparents, grandchildren, and nieces or nephews affected on the same side of the family.

Third-degree relativesFirst cousins, great-aunts or great-uncles, great-grandchildren, and great-grandparents affected on the same side of the family.

High-grade prostate cancer

DefinitionGleason score ≥ 7.

Not Covered Indications

BRCA and PALB2 testing is not covered when performed in men for surveillance, for screening for breast or epithelial ovarian cancers, or for assessing risk of other cancers such as colon cancer. These indications are considered experimental and investigational because effectiveness has not been established.

Policy Summary

PayerMassachusetts Executive Office of Health and Human Services

PolicyBRCA-related hereditary cancer genetic testing

Policy CodePolicy N/A

Change TypeRevisedno material clinical or coverage change identified

Effective DateJune 25, 2025

Next Review DateN/A

Key ActionObtain prior authorization before requesting BRCA-related genetic testing.

SourceLink

On This Page

Ashkenazi Jewish ancestry.

ONE or more additional qualifying personal or family-history criteria

Personal history of ovarian cancer.
Personal history of exocrine pancreatic cancer.
Personal history of metastatic (Stage IVB) or node-positive prostate cancer.
BRCA1, BRCA2, PALB2, or another pathogenic/likely pathogenic variant was detected by tumor profiling on any tumor type in the absence of germline pathogenic/likely pathogenic variant analysis.
One or more close blood relatives with ovarian cancer.
One or more close blood relatives with pancreatic cancer.
One or more close blood relatives with breast cancer diagnosed before age 50 years.
One or more close blood relatives with high-grade prostate cancer.
One or more close blood relatives with male breast cancer.
Ashkenazi Jewish ancestry.

At least one qualifying indication

Personal breast-cancer criteria: Breast cancer diagnosed at age 50 years or younger; multiple primary breast cancers; lobular breast cancer with personal or family history of diffuse gastric cancer; triple-negative breast cancer; need for testing to guide systemic treatment, including adjuvant olaparib or PARP-inhibitor treatment; unknown or limited family history; Ashkenazi Jewish ancestry; or specified family history of breast, ovarian, pancreatic, or prostate cancer.
Other personal or family cancer criteria: Personal or close-family history of ovarian cancer, pancreatic cancer, breast cancer diagnosed before age 50, high-grade prostate cancer, metastatic or high- or very-high-risk prostate cancer, or male breast cancer; or Ashkenazi Jewish ancestry.
Personal or tumor-profiling criteria: Personal history of ovarian cancer; personal history of exocrine pancreatic cancer; personal history of metastatic (Stage IVB) or node-positive prostate cancer; or a BRCA1, BRCA2, PALB2, or other pathogenic or likely pathogenic variant detected by tumor profiling when germline pathogenic or likely pathogenic variant analysis has not been performed or has not identified a variant.

Unaffected individual with unknown variant status when an appropriate affected family member is unavailable

Covered only when all of the following are met:

Unaffected individual with unknown variant status: The individual has no cancer diagnosis; an appropriate affected family member is unavailable for testing; the treating provider has documented genetic counseling; and a validated prior-probability model or equivalent documented guidelines and risk factors establish high risk for a BRCA or PALB2 pathogenic or likely pathogenic variant.Validated risk assessment indicating high risk

Submit the validated quantitative risk-assessment tool and positive-scoring responses or supporting guidelines and risk factors, together with a three-generation pedigree documenting affected family members.

Testing needed to aid systemic treatment decisions

Testing is covered when it is needed to guide a systemic treatment decision and the clinical rationale is documented.

Treatment-guided testing: The member has a qualifying cancer diagnosis; genetic test results are needed to aid the systemic treatment decision; and the request documents the diagnosis, hormone-receptor status, prior and current treatment, and rationale for testing to affect treatment.Test results must guide a treatment decision

A listed example is adjuvant olaparib for high-risk, HER2-negative breast cancer.

BRCA-related cancer risk associated with young-onset breast cancer, multiple primary breast cancers, limited or unknown family history, Ashkenazi Jewish ancestry, or specified family histories

The available excerpt identifies potential qualifying factors but does not provide complete decision logic.

Listed risk factors in the incomplete excerpt: Young-onset breast cancer diagnosed at age 50 years or younger; multiple primary breast cancers at any age; unknown or limited family history; Ashkenazi Jewish ancestry; or specified family history involving breast, ovarian, and/or prostate cancer, including breast cancer diagnosed at age 50 years or younger or three or more breast and/or prostate cancer diagnoses on the same side of the family.

The available source excerpt is incomplete and does not establish the full coverage decision logic.

Documentation Required

Document Clinical History and Testing Rationale

The treating or ordering provider must document the member’s relevant personal and/or family cancer history, risk factors, and the clinical rationale for the requested BRCA1, BRCA2, or PALB2 test. Documentation may be submitted as provider clinical records or a completed, signed, and dated test request form identifying the exact genes and/or variants to be tested.

MassHealth does not provide its own BRCA/PALB2 test request form.

Documentation Required

Document the Known Familial Variant

For an unaffected adult with a first- or second-degree biological relative who has a known BRCA1, BRCA2, or PALB2 pathogenic or likely pathogenic variant, request single-site analysis for the known familial variant when testing is recommended and appropriate genetic counseling has occurred.

Submit documentation of the known familial variant.
Document the relationship between the member and the relative carrying the variant.

Documentation Required

Category III: Submit Risk-Assessment Documentation

For Category III coverage, the treating provider must document that the unaffected member is high risk for a BRCA1, BRCA2, or PALB2 variant using a validated quantitative risk-assessment tool, such as a USPSTF-endorsed model.

Submit the name of the validated quantitative tool used.
Submit the member’s responses that produced the positive score or result, together with the guidelines and risk factors used to determine risk.
Include a three-generation pedigree documenting affected family members.

Documentation Required

Category IV: Document Treatment Eligibility

For Category IV coverage, submit documentation supporting testing in a cancer-affected member, including the diagnosis, hormone-receptor status, prior and current treatment, and the clinical rationale for testing to affect treatment decisions.

Explain how the member’s diagnosis and treatment history support the request.
Include the rationale for testing to guide treatment.

Documentation Required

Explain Clinical Utility and Submit Laboratory Information

The request must explain how genetic-test results will guide clinical decisions that would not otherwise be made without testing. The clinical laboratory performing the test must submit the required clinical information with the request.

Describe the specific clinical decisions expected to change based on the results.
Ensure the performing laboratory supplies the clinical information required for review.

Prior Authorization

Submit PA Through the POSC

Providers must electronically submit the PA request and all supporting documentation through the Provider Online Service Center (POSC), unless they have a currently approved electronic claims waiver.

For an approved waiver, submit the MassHealth Prior Authorization Request (PA-1 Form) and all supporting documentation.
Use the PA-1 Form available through the MassHealth provider prior-authorization website.
Direct POSC-access questions to MassHealth Customer Service at (800) 841-2900; TDD/TTY: 711.

Denial Risk

Non-Covered Medical-Necessity Circumstances

Do not request coverage when testing is primarily for managing a family member, when family history alone does not establish a reasonable likelihood of a BRCA/PALB2 pathogenic or likely pathogenic variant, or when the member has already been tested.

Consider the member’s current age and the ages of unaffected female relatives linking the member to affected relatives.
Prior BRCA-related testing generally excludes medical necessity for repeat testing under these criteria.

Denial Risk

Experimental or Investigational Indications

BRCA and PALB2 testing is experimental and investigational for other indications when effectiveness has not been established, including testing men for surveillance, screening for breast or epithelial ovarian cancers, and assessing risk for cancers such as colon cancer.

Do not submit requests based solely on these surveillance, screening, or other unsupported indications.

Documentation Required

Test an Affected Relative First

For an individual without a cancer diagnosis, test an appropriate affected family member first whenever possible. Testing the unaffected individual should be considered only when the appropriate family member is unavailable or testing is inappropriate.

Document why testing the affected relative is unavailable or inappropriate.
If the unaffected member is tested because variant status is unknown, document genetic counseling and high-risk determination using a validated quantitative risk-assessment tool.

Denial Risk

Repeat Testing Generally Not Covered

MassHealth considers BRCA-related genetic testing medically necessary once per lifetime. A member who has been previously tested generally does not meet medical-necessity criteria for repeat BRCA-related testing.

Review the member’s prior testing history before ordering a repeat test.
Include a clinical explanation only if the request involves circumstances addressed by a separate covered criterion.

Documentation Required

Genetic Counseling and Provider Responsibilities

Ensure covered BRCA-related testing is ordered with appropriate genetic counseling and documented informed consent. Providers are responsible for confirming that the member meets the applicable clinical category and that the request includes the information needed for medical-necessity review.

Document appropriate genetic counseling for covered testing.
Obtain the member’s prior written consent in accordance with Massachusetts General Laws Chapter 111, Section 70G.
Coordinate with the performing laboratory so all required clinical information is submitted.

Documentation Required

Complete the Test Request and Supporting Documentation

The treating or ordering provider must provide clinical documentation supporting medical necessity or submit a completed BRCA/PALB2 test request form signed and dated by the ordering physician. The request form must identify the exact gene(s) and/or variants being tested and must be accompanied by all applicable category-specific records.

For Category III, include the validated risk tool, positive score or result, supporting responses and risk factors, and a three-generation pedigree.
For Category IV, include diagnosis, hormone-receptor status, prior and current treatment, and rationale for testing to impact treatment.
Submit the provider documentation and laboratory clinical information through the POSC, or use the PA-1 Form when an approved electronic claims waiver applies.

DefinitionIncludes both invasive breast cancer and ductal carcinoma in situ (DCIS).

Ovarian carcinoma

DefinitionIncludes fallopian-tube and primary peritoneal cancers.

HistologyEpithelial, non-mucinous ovarian cancers are associated with the BRCA gene.