Gene Panel Testing 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 the gene panel testing for evaluation of the enrollee’s astrocytoma. Findings: Two physician reviewers found that the testing at issue was likely to be more beneficial for evaluation of the patient’s medical condition than any available standard therapy. Li-Fraumeni syndrome is an inherited autosomal dominant disorder that is manifested by a wide range of malignancies that appear at an unusually early age. Li-Fraumeni syndrome is also known as the sarcoma, breast, leukemia, and adrenal gland (SBLA) cancer syndrome. This cancer predisposition syndrome is inherited as an autosomal dominant disorder and is associated with abnormalities in the tumor protein p53 gene (TP53).

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for gene panel testing. The American College of Obstetricians and Gynecologists (ACOG) has issued recommendations for expanded carrier screening for genetic disorders in all women before and during pregnancy. The ACOG guidelines recommend that each healthcare provider should establish a standard approach for ethnic-specific, panethnic, or expanded carrier screening. Women should be screened for common conditions such as spinal muscular atrophy, cystic fibrosis, hemoglobinopathies and fragile X. The guidelines also recommend expanded carrier screening, which tests for as many as several hundred conditions simultaneously, as an acceptable strategy for prenatal carrier screening.

Where the denial was upheld

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for gene panel testing and/or the advanced lipoprotein testing. Lipoprotein(a) is a causal independent risk factor for atherosclerotic cardiovascular disease events. The risk of atherosclerotic cardiovascular disease events has been shown to increase linearly with lipoprotein(a) concentrations. The National Lipid Association (NLA) stated that lipoprotein(a) testing may be reasonable to refine atherosclerotic cardiovascular disease risk in adults with specific risk factors. Per the NLA, a personal history of premature atherosclerotic cardiovascular disease, primary severe hypercholesterolemia, or suspected familial hypercholesterolemia, or for patients with first-degree relatives with premature atherosclerotic cardiovascular disease.

Nature of Statutory Criteria/Case Summary: An enrollee’s parent has requested authorization and coverage for gene panel testing (CPT 81405), (CPT 81479), (CPT81404), (CPT 81323), (CPT 81402), (CPT 81321), and (CPT 81406). Findings: The physician reviewer found that routine genetic screening is not recommended for all inflammatory bowel disease (IBD) patients, although it should be considered depending on the age of onset and further criteria such as family history, relevant comorbidities, and extraintestinal manifestations. Genomic testing may be especially useful in children with very early-onset (VEO) IBD diagnosed under the age of two. The older the age of disease onset, the less likely a monogenic disorder is to be identified.

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 Gene Panel Testing, then check the rights and deadlines that apply to your plan.