Genetic Genomic Test denials: what the review data shows

Where the denial was overturned

Nature of Statutory Criteria/Case Summary: An enrollee has requested authorization and coverage for the Invitae Comprehensive Muscular Dystrophy Panel [33-Genes].Neuromuscular disorders consist of a genetically and phenotypically heterogeneous group of diseases disrupting any component of the neuraxis of the peripheral nervous system. These disrupted components can be skeletal muscle, neuromuscular junction, or nerves. The causes can be genetic (single gene disorder, polygenic disorder), nongenetic (infective, autoimmune, autoinflammatory), or yet to be identified (Ng, K., et al.). The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions.

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for a Tempus xT assay gene panel. Traditional solid tumor biopsies do not include a broad panel of multiple additional actionable next gene sequencing (NGS) mutations such as estrogen receptor 1 (ESR1), phosphatidylinositol-3-kinase (PI3K), mechanistic target of rapamycin (mTOR) or homologous recombination deficiency (HRD), microsatellite instability (MSI), or transmembrane domain (TMD), which could translate into changes in cancer treatment. In a patient with multiple sites of stage IV disease, there may be heterogeneity where a lung tumor might have a different mutation profile than in the bone lesions. Blood liquid testing for circulating tumor (Ct) deoxyribonucleic acid (DNA) may sometimes capture this heterogeneity due to various tumor sites shedding the tumor DNA into the blood stream.

Where the denial was upheld

Nature of Statutory Criteria/Case Summary: An enrollee has requested reimbursement for Oncotype DX Prostate genomic testing. Findings: The physician reviewer found that current medical literature, the service at issue was not likely to have been more beneficial for the evaluation of this patient than standard risk stratification, for example, risk stratification under the National Comprehensive Cancer Network (NCCN). The Oncotype DX Prostate cancer assay is a real time polymerase chain reaction (RT-PCR) assay designed for analysis of prostate core needle biopsies. The assay measures the expression of 17 genes to calculate a Genomic Prostate Score (GPS), with a lower GPS score meaning a more favorable biology and less aggressive disease.

Nature of Statutory Criteria/Case Summary: An enrollee has requested authorization and coverage for full exome sequencing (genetic test) services. Findings: The physician reviewer found that American College of Medical Genetics and Genomics (ACMG) states, “Major advances in DNA sequencing technology have made it possible to do large-scale sequencing, up to and including whole-genome sequencing, in an effort to identify a gene mutation that may provide a diagnosis for a patient with an abnormal phenotype.” The ACMG definitions note, “Whole-genome sequencing (WGS) implies the determination of the sequence of most of the DNA content comprising the entire genome of an individual…The ‘exome’ is the component of the genome that predominantly encodes protein.

These are outcomes from California’s external review program — an independent physician panel that binds the insurer. Every state has an equivalent process, and internal appeals succeed even more often. Cite the outcome record for Genetic Genomic Testwhen you appeal: reviewers routinely find that denials like yours didn’t hold up.