The genetic basis of HBOC is a germline (inherited) mutation in either the BRCA1 or BRCA2 genes. Normally, the proteins produced by the BRCA1 and BRCA2 genes prevent cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-stranded DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, greatly increases the probability of malignant transformation and cancer. Approximately 7% of breast cancer and 11 – 15% of ovarian cancer cases are caused by BRCA1 or BRCA2, which are inherited in an autosomal dominant pattern.1,2,3
When assessing hereditary cancer risk, a patient’s personal and family history is collected to investigate the risk for HBOC. Once a patient is identified as being at increased risk of HBOC, genetic test results provide the most accurate means of cancer risk assessment for a patient.
The results of the BRACAnalysis® test enable the development of a patient-specific medical management plan to significantly reduce the risk of cancer. BRACAnalysis will allow you to:
- Target increased surveillance and other interventions specifically to individuals with an BRCA1 or BRCA2 mutation – maximizing patient care and increasing clinical efficiency
- Significantly improve outcomes and reduce medical costs through earlier diagnosis and treatment of cancer, should it develop
- Counsel patients and family members on the underlying causes of the pattern of breast and/or ovarian cancers in their family
- Avoid unnecessary interventions for family members who do not test positive for the mutation known to be in the family
Medical Management Strategies that May Reduce the Risk of Cancer
*Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made based on consultation between each patient and his or her healthcare provider.
Increased Surveillance for Breast Cancer in Mutation Carriers
Risk Reducing Medications for Mutation Carriers
*Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made based on consultation between each patient and his or her healthcare provider. †HBOC Syndrome management is an evolving area. The most up to date management guidelines from NCCN can be found at the National Comprehensive Cancer Network. See the Genetic/Familial High-Risk Assessment: Breast and Ovarian guidelines. www.nccn.org
Listed below are examples of the possible test results for BRACAnalysis® genetic testing.
Guidelines for Letters of Medical Necessity (LMNs)
A healthcare provider may include a LMN with a pre-authorization request, claim submission, or appeal to facilitate the insurance review process for the benefit of the patient. Our experience with insurance companies is such that we encourage healthcare providers to cover as many of the following points as possible that are applicable to the patient:
- Explanation that the requested genetic test has been ordered by a physician
- Explanation of the medical necessity for the test requested
- If family history is cited, give as much family history as possible, including specifics about relationship to patient, cancer site, age of cancer diagnosis (alternatively, a detailed three-generation pedigree that contains this information could be attached and referred to in the body of the letter)
- Patient’s diagnosis and prognosis, including age of onset and specific location of cancer
- Explanation that the genetic test is recognized as appropriate for inclusion in this patient’s treatment regimen
- Treatment plan, including specific statements about anticipated impact of the genetic test on the medical management of patient.
We remind you to read through the entire letter to make sure it makes sense for each patient. Please call 800-469-7423 if Myriad Customer Service may provide further assistance or answer questions.
Sample LMNs for BRACAnalysis®:
- Comprehensive BRACAnalysis®
- Rearrangement Test (BART)
- Single Site BRACAnalysis – Known BRCA Mutation in Family
- Multi-Site 3 BRACAnalysis Only
Tips for Saving and Modifiying Sample LMNs:
This is a Microsoft Word document that is saved as “read-only” to preserve the original wording. To customize, simply use the “save as” command from the “File” menu, which will prompt you to rename the document to something besides the original name. Your newly named document is no longer “read-only” and can be modified as you wish.
Comprehensive BRACAnalysis® is a highly reliable and accurate test that includes complete sequencing of the BRCA1 and BRCA2genes and an additional procedure to identify five common large rearrangements in the BRCA1 gene.
The BRACAnalysis Large Rearrangement Test (BART) was launched to provide a way to detect additional large genomic rearrangements in both BRCA1 and BRCA2.
Although each patient must be evaluated individually based on his or her personal and family history, there is, on average, a less than 1% chance that BART will identify a mutation in a patient who has already had a negative result from Comprehensive BRACAnalysis.
Additional BART Resources:
The following letters are examples of what your patients can write and send to their relatives with a copy of their BRACAnalysis®test results.
The tables below represent observations of deleterious mutations by Myriad Genetic Laboratories, Inc. through its clinical testing service, reflective of the current test offering.
Data obtained through testing performed under specific research protocols are not included here. The information included in these tables was obtained from a routine laboratory requisition form and has not been independently verified by Myriad. Patients for whom relevant information was not provided were not included in this tabulation.
Table 2 includes patients tested only for three prevalent founder mutations as well as patients tested by full sequence analysis. The method used to develop the prevalence tables has been published in, Frank TS et al: Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals.
Journal of Clinical Oncology. 20:1480-1490, 2002.
Please call 800-469-7423 with any questions or comments.
How is BRACAnalysis® Performed?
How long does it take for BRACAnalysis results?
Results usually take two weeks and are sent to either the ordering healthcare provider or a designated “mail to” provider identified on the test request form.
Can a health insurance provider discriminate against a patient based on BRACAnalysis results?
Federal and state governments recognize the value of genetic information to patients and doctors and have put specific legal protections in place. The Genetic Information Nondiscrimination Act or GINA adds additional protection to existing legal protections that are in place at both the federal and state levels. GINA is a federal law that protects Americans from being treated unfairly based on differences in their DNA. GINA prevents discrimination from health insurers and employers. Health insurers are prohibited from requesting or requiring an individual or family member to undergo a genetic test or requesting, requiring, or purchasing genetic information, nor can they use an individual’s genetic information in setting eligibility, premium or contribution amounts by group and individual health insurers. GINA also protects individuals from employers requesting, requiring, or purchasing genetic information about an individual employee or family member. In addition, the employer is prohibited from using an individual’s genetic information in employment decisions such as hiring, firing, job assignments and promotions.
The Health Insurance Portability & Accountability Act (HIPAA) recognizes genetic information as Protected Health Information (PHI) and specifies protecting its confidentiality. HIPAA further states that “genetic information shall not be treated as a pre-existing condition in the absence of a diagnosis of the condition related to such information,” e.g., a diagnosis of hereditary cancer. The Americans with Disabilities Act (ADA) provides additional protections regarding the use of genetic information by employers.
Almost all states have additional laws that protect people from various forms of health insurance and employment discrimination based on genetic information. For more information about how these laws apply to you, go to the National Human Genome Research Institute.
If a patient has already had breast cancer, what does a positive BRACAnalysis result indicate?
Individuals with a BRCA1 or BRCA2 mutation are at a greater risk for developing a new ovarian or breast cancer. Knowing a patient’s BRCA status can help you to develop a management plan to reduce this risk, or detect another potential cancer at an earlier, more treatable stage. Importantly, a patient’s test results may also have significant meaning for the health of his or her family members.
If no one in her family has had ovarian cancer, should a woman with a BRCA1 or BRCA2 mutation still be concerned?
A woman who carries a BRCA1 or BRCA2 mutation is at increased risk for both breast and ovarian cancer—even if there are no known cases of ovarian cancer in the family.
Is BRACAnalysis appropriate for men?
Any male with a personal history of breast cancer or a significant family history of breast or ovarian cancer may have a BRCA1 or BRCA2 mutation. If a family member has a BRCA1 or BRCA2 mutation, he may have inherited that mutation. Men in this situation should consider testing. Although male breast cancer is rare, men who carry BRCA mutations are more likely to develop breast or prostate cancer. These men also have a 50% chance of passing the mutation on to their children, whether or not they have been diagnosed with cancer.