Expanded Genomic Testing for Pediatric Cancers is Clinically Impactful But Reimbursement Lags Behind

Next-generation sequencing (NGS), particularly expanded genomic testing that includes whole-exome and RNA-sequencing and copy number variation is transforming the paradigm for diagnosing and treating cancer. However, in the U.S. inconsistent coverage and variable payment is hindering clinic adoption of these broader tests. A review of clinical utility/impact, coverage and reimbursement was conducted in a cohort of pediatric cancer patients to support clinical implementation and reimbursement for expanded genomic testing. NGS was performed in a CLIA-certified laboratory at Columbia University Medical Center. Expanded testing included whole-exome sequencing (WES) of matched tumor-normal tissue, transcriptome analysis (RNA-seq) and copy number variation (CNV). Reimbursement data were available for 169/247 tests performed (68%). Solid tumors comprised 75% of testing. Clinical utility/impact was demonstrated in 117/169 tests (69%): druggable targets (39%); diagnostic/prognostic significance (41%); other clinical impact (11%). WES alone identified 39/117 (33%) of the clinically-impactful findings, whereas RNA-seq/CNV identified 51% of the impactful findings. WES combined with RNA-seq/CNV identified the remaining 18% of impactful findings. 129 tests (76%) received partial reimbursement. In 29/40 tests that were denied coverage (73%), a clinically-actionable result was found. Reimbursement by commercial plans was provided for 72/98 tests (73%) and by managed-government plans for 57/60 tests (95%). Government plans provided no coverage for 11 tests. Insurers without a specific coverage plan or considered NGS “experimental”, denied coverage for all or part of testing. On average, insurers reimbursed 37% of the total NGS service charges: 39% (range, 0-92%) for commercial plans; 41% (range, 0-68%) for managed-government plans. The average reimbursement was $2,809: $2,974 (range, $668-$7,317) for commercial plans; $3,055 (range, $577-$4,902) for managed-government plans. Expanded genomic testing provided clinically-impactful information for 69% of cases including 51% by RNA-seq/CNV but only one-third of charges received reimbursement. Broader reimbursement policies are needed to adopt expanded genomic testing that benefits patients into clinical practice.