Download BRCA1/2 Ashkenazi Founder Mutation Panel

[DATE]
Patient: [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]
Insurance Company: [INSURANCE_COMPANY_NAME]
Subscriber Name: [POLICY_HOLDER_NAME]
Policy #: [POLICY_NUMBER]
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 of the three common Ashkenazi
Jewish BRCA1/2 mutations 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
have
hereditary
breast
and
ovarian
cancer
syndrome
(HBOC).
[Mr./Ms.]
[PATIENT_LAST_NAME] is of Ashkenazi Jewish descent. [HE/SHE] 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
Among individuals of Ashkenazi Jewish descent, the frequency of the three founder mutations is
approximately 1/40. The National Comprehensive Cancer Network (NCCN) 1 recommends that
individuals of Ashkenazi Jewish descent should first be tested for the three known founder
mutations. Given the high frequency of these mutations in this population, testing for all three
founder mutations is recommended even when a relative has been identified as having one of these
mutations. If these results are negative, comprehensive BRCA1/2 testing via sequencing and
deletion/duplication analysis should be considered.
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.
Conclusion:
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
[PHYSICIAN_PHONE_NUMBER].
Sincerely,
[PHYSICIAN_FIRST_NAME] [PHYSICIAN_LAST_NAME], MD
cc: [PATIENT_FIRST_NAME] [PATIENT_LAST_NAME]
1. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Genetic/Familial
High-Risk Assessment: Breast and Ovarian. Version 1.2015. www.nccn.org.