Appeal type: Experimental/Investigational
Decision: Upheld

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for genetic testing for cancer screenings for evaluation of the enrollee, who has a family history of multiple high risk cancers. Findings:  The 3 physician reviewers found that the patient is a 51-year old female with type II diabetes, hypertension, and dyslipidemia. She was noted to have a family history of cancer. However, the patients mammogram was negative and a Pap smear was also negative. The patient underwent genetic testing. The patient requested reimbursement for genetic testing. The results showed a variant of uncertain clinical significance. The Health Plan denied reimbursement noting that the services at issue were investigational for the evaluation of this patient. This patients history is not suggestive of hereditary predisposition to cancer. The medical studies indicate that BRCA1 mutation can increase risk for breast, ovarian, cervical, uterine, pancreatic, gastric, and prostate cancers. BRCA2 mutations can increase risk for breast, ovarian, gallbladder, bile duct, prostate, pancreatic, and gastric cancer. In the event the BRCA tests were negative, there is still a possibility of hereditary predisposition from another gene defect. There are guidelines in place that evaluate the occurrence of Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) tumors in families. These are the Amsterdam criteria and the Bethesda consensus guidelines, which are not fulfilled in this clinical setting. These guidelines are highly focused on patients with colorectal cancer who have microsatellite instability. In this patients case, the family history is not well documented in the clinical progress notes. The patient has no first degree relatives with cancer and she herself has not been diagnosed with colon polyps or pre-malignant or malignant lesions.  For these reasons, genetic testing was not likely to have been more efficacious than the standard methods of evaluating this patients medical condition. Final Result: The 3 reviewers determined that the services at issue were not likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be upheld. Credentials/Qualifications: Physician reviewer number one is board certified in internal medicine with sub-specialty certification in medical oncology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number two is board certified in internal medicine with sub-specialty certification in medical oncology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number three is board certified in internal medicine with sub-specialty certification in medical oncology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.