Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States

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Background and objectives Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is frequent inherited enzymopathy that poses potentially preventable risk for extreme hyperbilirubinemia (EHB) which can, rarely, lead to acute bilirubin encephalopathy, childhood kernicterus and death. We aimed to estimate quality adjusted life years (QALY) lost due to G6PD deficiency associated with EHB and economic costs to best estimate value of universal pre-discharge screening. Methods We did a cost utility analysis for US birth cohort utilizing pre-discharge screening decision tree model to estimate population burden and EHB outcomes, based on literature search and expert opinions. Employing human capital approach, we measured health benefits in terms of QALYs and economic losses. QALYs and costs were discounted at 3%; one-way sensitivity analysis was used for decision variables. Results We determined for USA live births of 3.86 million in 2017, 1464 cases of EHB were estimated to be due to G6PD deficiency (CI 95%; range: 1270–1656) and contributed 2 deaths (CI 95%; range 1.3–3.2) and 14 (CI 95%; range: 9.1–21.5) cases of kernicterus. Over lifetime horizon, the model predicted undiscounted and discounted gains of 165 (102–252) life years; 241 (183–433) QALYs and 16 (9.9–24.5) life years; 89 (67.9–160.5) QALYs, respectively. Assuming 50% effectiveness, benefit cost ratios ranged from 0.19 to 3.42 for diverse operational settings. The cost to prevent a single case of kernicterus was $2.7 to 6.8 million per annum with cost per QALY gained at $35,946 to $89,159. Conclusion At incremental cost-effective threshold of $100,000/life year, pre-discharge screening would be expected to prove cost effective in preventing EHB related morbidities and mortality attributed to G6PD deficiency.