Lynch Syndrome denials in California external review

What the reviewers wrote

Where the denial was overturned

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for genetic testing (CPT 81295 MSH2 gene full seq; CPT 81292 1 MLH1 gene full seq; CPT 81300 MSH6 gene dup/delete variant; CPT 81317 PMS2 gene full seq analysis; CPT 81403 MOPATH procedure level 4). Colorectal cancer can occur in patients with hereditary predisposition to cancer such as Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC). Sharaf and colleagues report that genetic testing appears to be underutilized by first-degree relatives of patients with Lynch syndrome. Sinicrope notes that it is critical to recognize inherited syndromes that are associated with colorectal cancer, of which the Lynch syndrome is the most common.

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for the genetic screening (MyRisk) for evaluation of the enrollee’s risk of cancer.Findings: The physician reviewer found that the genetic screening (MyRisk) was likely to be more beneficial for evaluation of the patient’s medical condition than any available standard therapy. The MyRisk panel testing is considered a standard of care for patients in this clinical setting. The patient’s father appears to be unavailable for testing and had colon cancer and a brain tumor younger than age 50 increasing the patient’s risk of Lynch syndrome. The MyRisk panel detects disease-causing mutations in the MLH1, MSH2, EPCAM, MSH6, PMS2 and MYH genes that are responsible for the majority of Lynch syndrome and MYH-associated polyposis (MAP) cases.

Where the denial was upheld

Nature of Statutory Criteria/Case Summary: An enrollee has requested Familial Adenomatous Polyposis (FAP) and/or Lynch Syndrome gene testing for evaluation of her medical condition. Findings: Two physician reviewers found that the requested FAP and Lynch Syndrome gene testing is not likely to be more effective for this patient than other available options. This patient does not meet the definition of high risk colorectal cancer syndromes according to the National Comprehensive Cancer Network (NCCN) guidelines. She also does not meet Amsterdam or Bethesda criteria. Thus, the requested gene testing is not likely to be more beneficial than her current standard therapy of increased surveillance with colonoscopy.

The enrollee requested reimbursement for Lynch Syndrome genetic analysis testing. The enrollee has a medical history of Lynch syndrome. The genetic counselor determined the enrollee’s personal and family history is suggestive of a predisposition hereditary cancer. The report confirmed the enrollee was positive for a mutation, which is consistent with a diagnosis of hereditary non-polyposis colorectal cancer, also known as Lynch syndrome. The genetic cause of the illnesses affecting the enrollee and his family members was already known, based on results of prior testing. The new test only confirmed the results of the prior test.

These outcomes describe eligible cases completed through California DMHC’s Independent Medical Review program. They do not estimate the chance that an internal appeal, an external review in another jurisdiction, or your individual case will succeed. Use the record to identify evidence patterns involving lynch syndrome, then check the rights and deadlines that apply to your plan.