Advertisement

CC2 COST-EFFECTIVENESS ANALYSIS OF NEWBORN SCREENING AND TREATMENT FOR SPINAL MUSCULAR ATROPHY

      Objectives

      Spinal muscular atrophy (SMA), a rare pediatric disorder, was recommended for national screening in the U.S in 2018. However, the high cost of the only available drug treatment (nusinersen) and a potential future gene therapy (onasemnogene abeparvovec) raises the question of whether newborn screening for SMA will be economically favorable. The objective is to evaluate the cost-effectiveness of newborn screening and treatment of SMA in the U.S.

      Methods

      We compared the costs and health outcomes of newborn screening (NBS) and clinical identification (CI) from a healthcare sector perspective. Treatments included standard care, drug (nusinersen, estimated $750,000, first year; $375,000, annually/patient), or gene therapy (onasemnogene abeparvovec, estimated $2,000,000/patient, one-time cost). Four strategies were compared: NBS/drug (future practice), NBS/gene therapy (future practice), CI/drug (current practice), CI/standard care (former practice). We developed a state-transition model to simulate the costs and health outcomes of a hypothetical cohort of 4,000,000 newborns over a lifetime. State-transition probabilities, costs, and health utilities were derived from published literature. Primary outcomes included costs, quality-adjusted life years (QALYs), and incremental cost-effectiveness ratios (ICERs). Costs and QALYs were discounted at 3%.

      Results

      NBS strategies had higher costs and QALYs than CI strategies (NBS/drug: $843, 30.2440 QALYs; NBS/gene therapy: $454, 30.2442 QALYs; CI/drug: $178, 30.2428 QALYs; CI/standard care: $13, 30.2427 QALYs). When compared with CI/standard care, CI/drug had an ICER of $2,694,167/QALY. When compared to CI/drug, NBS/gene therapy had an ICER of $187,650/QALY. NBS/drug was dominated by NBS/gene therapy due to higher costs and slightly lower QALYs. However, when compared with CI/drug, NBS/drug had an ICER of $515,555/QALY.

      Conclusions

      When compared to clinical identification with drug, newborn screening with drug or gene therapy yield cost-effectiveness results that are unlikely to be considered favorable. Future research should explore under what conditions receiving these new treatments would maximize patient benefit yet be considered more economically favorable.