BRCA1/2 Sequencing and Deletion/Duplication

Subscriber Name: [POLICY_HOLDER_NAME]
Dear Claims Specialist,
I am writing this letter on behalf of my patient [PATIENT_FIRST_NAME]
[PATIENT_LAST_NAME] to request coverage for genetic testing (sequencing and
deletion/duplication analysis) of the BRCA1/2 genes offered through GeneDx, a high complexity
CLIA certified laboratory located in Gaithersburg, Maryland.
Personal and Family History:
[PATIENT_FIRST_NAME] is a [PATIENT_AGE] year-old [PATIENT_GENDER] suspected to
[PATIENT_LAST_NAME] was diagnosed with XX cancer at age XX years. [HIS_HER] family
history is remarkable for (discuss family history). [Mr./Ms.] [PATIENT_LAST_NAME]’s (personal
and/or family) history is suggestive of a diagnosis of HBOC. However, the only way to thoroughly
assess this patient’s future cancer risks is to perform genetic testing. The results of this genetic
test will have a direct impact on this patient’s treatment and management.
Test Information and Impact of Results on Medical Management
We are requesting BRCA1/2 sequencing and deletion/duplication analysis be performed at
GeneDx. The National Comprehensive Cancer Network (NCCN) recommends both of these types
of analysis when BRCA testing is performed1. As you are aware, the lifetime cancer risks associated
with a BRCA1 or BRCA2 mutation are significantly increased above the general population risks.
For women who have not been diagnosed with cancer, the lifetime risk of breast cancer has been
estimated to be as high 84% and the lifetime risk of ovarian cancer has been estimated to be as high
as 54%. BRCA1/2 mutations have also been reported in women with fallopian tube carcinoma,
primary peritoneal carcinoma, and uterine serous carcinoma. Women with BRCA1/2 mutations
also have an increased risk for contralateral breast cancer; this risk has been estimated to be as high
as 63%, depending upon the age at which the first breast cancer was diagnosed. Other cancer risks
associated with a BRCA1/2 mutation include those as high as 7% for pancreatic cancer, 34% for
prostate cancer, and 7% for male breast cancer.
Specific management guidelines have been established for individuals having a BRCA1/2 mutation,
and are updated regularly by the NCCN1. These guidelines include recommendations for increased
cancer surveillance and options for prophylactic surgeries and chemoprevention. Thus, the results of
this testing will greatly impact the management of this patient.
Impact of Result on the Medical Management of Relatives:
Most hereditary cancer syndromes are inherited in an autosomal dominant manner. Therefore,
genetic testing results not only have implications for the patient, but also [HIS_HER] relatives. If a
genetic mutation is identified in [PATIENT_FIRST_NAME] this will allow us to assess risk and
offer testing to [HIS_HER] relatives. These individuals may also have increased cancer risks and
could benefit greatly from appropriate medical management and counseling.
Knowledge of this patient's genetic information is important for me to more accurately assess
[HIS_HER] cancer risks and will guide my recommendations for [HIS_HER] care. I have chosen to
send the patient’s test to GeneDx because this laboratory has a highly sensitive, rapid and costeffective test for BRCA1/2 mutations, which will provide helpful medical treatment planning
information for my patient.
Thank you for your review and consideration. I hope you will support this request for genetic
testing coverage for [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]. If you have
questions, or if I can be of further assistance, please do not hesitate to call me at
1. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/Familial
High-Risk Assessment: Breast and Ovarian. Version 1.2015.
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