Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis; You Wu; Sebastian Lunke; Susan M White; Tiong Y Tan; Alison Yeung; Matthew F Hunter; Melissa Martyn; Clara Gaff; Zornitza Stark

doi:10.1016/j.gim.2022.01.013

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Genet Med. 2022 May;24(5):1037-1044. doi: 10.1016/j.gim.2022.01.013. Epub 2022 Feb 16.

Authors

Ilias Goranitis¹, You Wu², Sebastian Lunke³, Susan M White⁴, Tiong Y Tan⁴, Alison Yeung⁴, Matthew F Hunter⁵, Melissa Martyn⁶, Clara Gaff⁷, Zornitza Stark⁸

Affiliations

¹ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia; Australian Genomics Health Alliance, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Melbourne, Victoria, Australia. Electronic address: [email protected].
² Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia; Australian Genomics Health Alliance, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
³ Australian Genomics Health Alliance, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁴ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁵ Monash Genetics, Monash Health, Melbourne, Victoria, Australia; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia.
⁶ Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
⁷ Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia; Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
⁸ Australian Genomics Health Alliance, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia. Electronic address: [email protected].

PMID: 35181209
DOI: 10.1016/j.gim.2022.01.013

Abstract

Purpose: To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is outweighed by reductions in health care costs and increases in personal utility.

Methods: Hospital costs and medical files from a cohort of 40 children were analyzed. The health economic impact of rapid and ultra-rapid genomic testing, with and without early initiation, relative to standard genomic testing was evaluated.

Results: Shortening the time to results led to substantial economic and personal benefits. Early initiation of ultra-rapid genomic testing was the most cost-beneficial strategy, leading to a cost saving of AU$26,600 per child tested relative to standard genomic testing and a welfare gain of AU$12,000 per child tested. Implementation of early ultra-rapid testing of critically ill children is expected to lead to an annual cost saving of AU$7.3 million for the Australian health system and an aggregate welfare gain of AU$3.3 million, corresponding to a total net benefit of AU$10.6 million.

Conclusion: Early initiation of ultra-rapid genomic testing can offer substantial economic and personal benefits. Future implementation of rapid genomic testing programs should focus not only on optimizing the laboratory workflow to achieve a fast turnaround time but also on changing clinical practice to expedite test initiation.

Keywords: Children; Cost-benefit; Cost-effectiveness; Genomics; Rare diseases.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Australia
Child
Cost-Benefit Analysis
Critical Care*
Critical Illness*
Genetic Testing / methods
Humans
Infant