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. 2022 Jul;22(4):223-229.
doi: 10.1038/s41397-022-00277-5. Epub 2022 Apr 18.

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

Vakaramoko Diaby  1 , Aram Babcock  2 , Yushi Huang  2 , Richard K Moussa  3 , Paula S Espinal  4 , Michelin Janvier  4 , Diana Soler  4 , Apeksha Gupta  4 , Parul Jayakar  5 , Magaly Diaz-Barbosa  6   7 , Balagangadhar Totapally  8   9 , Jun Sasaki  7   10 , Anuj Jayakar  11 , Daria Salyakina  4
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Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

Vakaramoko Diaby et al. Pharmacogenomics J. 2022 Jul.

Abstract

There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown cause. Data were collected prospectively of patients admitted to the Nicklaus Children's Hospital's intensive care units from March 2018 to September 2020, with rWGS (N = 65). Comparative data were collected in a matched retrospective cohort with standard diagnostic genetic testing. We determined total costs, diagnostic yield (DY), and incremental cost-effectiveness ratio (ICER) adjusted for selection bias and right censoring. Sensitivity analyses explored the robustness of ICER through bootstrapping. rWGS resulted in a diagnosis in 39.8% while standard testing in 13.5% (p = 0.026). rWGS resulted in a mean saving per person of $100,440 (SE = 26,497, p < 0.001) and a total of $6.53 M for 65 patients. rWGS in critically ill pediatric patients is cost-effective, cost-saving, shortens diagnostic odyssey, and triples the DY of traditional approaches.

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