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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

The Pharmacogenomics Journal volume 22, pages 223–229 (2022)Cite this article

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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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Fig. 1: Study flowchart.
Fig. 2: Cost-effectiveness acceptability curves for rapid whole-genome sequencing and standard diagnostic genetic testing.

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Data availability

The data that support the findings of this study are available from Nicklaus’ Children hospital, but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Data are however available from the authors upon reasonable request and with permission of Nicklaus’ Children hospital.

Code availability

The STATA codes used in this study are available from the authors upon request.

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Acknowledgements

We would like to acknowledge Rene Medina for their contribution to the data extraction and Jennifer McCafferty for assistance in Baby Manatee program development.

Funding

This study was supported by Florida Department of Heath State Appropriation, Cornelia T. Bailey Foundation, Sanford Health and Nicklaus Children’s Health Care Foundation.

Author information

Authors and Affiliations

  1. Department of Pharmaceutical Outcomes and Policy (POP), College of Pharmacy, HPNP 3317, University of Florida 1225 Center Drive, Gainesville, FL, 32610, USA

    Vakaramoko Diaby

  2. Department of Pharmaceutical Outcomes and Policy (POP), College of Pharmacy, HPNP 2309, University of Florida 1225 Center Drive Gainesville, Gainesville, FL, 32610, USA

    Aram Babcock & Yushi Huang

  3. Ecole Nationale Supérieure de Statistiques et d’Economie Appliquée (ENSEA), Côte d’Ivoire 08 BP 03, Abidjan, 08, Côte d’Ivoire

    Richard K. Moussa

  4. Personalized Medicine and Health Outcomes Research, Nicklaus Children’s Hospital, 3100 SW 62nd Ave, Miami, FL, 33155, USA

    Paula S. Espinal, Michelin Janvier, Diana Soler, Apeksha Gupta & Daria Salyakina

  5. Division of Genetics and Metabolism, Nicklaus Children’s Hospital, 3100 SW 62nd Ave, Miami, FL, 33155, USA

    Parul Jayakar

  6. Department of Pediatrics, Herbert Wertheim College of Medicine, Florida International University, 11200 SW 8th St, Miami, FL, 33199, USA

    Magaly Diaz-Barbosa

  7. Nicklaus Children’s Hospital Miami, 3100 SW 62nd Ave, Miami, FL, 33155, USA

    Magaly Diaz-Barbosa & Jun Sasaki

  8. Division of Critical Care Medicine, Nicklaus Children’s Hospital, 3100 SW, 62nd Avenue, Miami, FL, 33155, USA

    Balagangadhar Totapally

  9. Herbert Wertheim College of Medicine, Florida International University, 11200 SW 8th St, Miami, FL, 33199, USA

    Balagangadhar Totapally

  10. Department of Cardiology, Herbert Wertheim College of Medicine, Florida International University, 11200 SW 8th St, Miami, FL, 33199, USA

    Jun Sasaki

  11. Neurocritical Care & Department of Neurology, Division of Epilepsy, Nicklaus Children’s Hospital, 3100 SW, 62nd Avenue, Miami, FL, 33155, USA

    Anuj Jayakar

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  1. Vakaramoko Diaby
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Contributions

Conceptualization: VD, DS2. Data curation: PE, MJ, DS, AG, PJ, MDB, BT, JS, AJ, DS2. Formal Analysis: VD, AB, YH, RM, PE, MJ, DS, AG, DS2. Funding Acquisition: VD, DS2. Investigation: PE, MJ, DS, AG, PJ, MDB, BT, JS, AJ, DS2. Methodology: VD, AB, YH, PE, AG, PJ, MDB, BT, JS, AJ, DS2. Project administration: PE, MJ, DS, DS2. Resource: PE, PJ, MDB, BT, JS, AJ. Supervision: VD, PE, DS2. Validation: PE, MJ, DS, AG, PJ, MDB, BT, JS, AJ, DS2. Writing – original draft: VD, AB, YH, DS, PE, AG, DS2. Writing – review & editing: VD, AB, YH, DS, PE, AG, PJ, MDB, BT, JS, AJ, DS2. (DS = Diana Soler, DS2 = Daria Salyakina).

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Correspondence to Vakaramoko Diaby.

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The authors declare no competing interests.

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The data used for analyses within the project were de-identified.

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Diaby, V., Babcock, A., Huang, Y. et al. 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. Pharmacogenomics J 22, 223–229 (2022). https://doi.org/10.1038/s41397-022-00277-5

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