The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study

Dylan A Mordaunt; Francisco Santos Gonzalez; Sebastian Lunke; Stefanie Eggers; Simon Sadedin; Belinda Chong; Kim Dalziel; Zornitza Stark; Ilias Goranitis

doi:10.1016/j.gim.2023.101058

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study

Genet Med. 2024 Apr;26(4):101058. doi: 10.1016/j.gim.2023.101058. Epub 2023 Dec 30.

Authors

Dylan A Mordaunt¹, Francisco Santos Gonzalez², Sebastian Lunke³, Stefanie Eggers⁴, Simon Sadedin⁴, Belinda Chong⁴, Kim Dalziel⁵, Zornitza Stark⁶, Ilias Goranitis⁷

Affiliations

¹ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Women's and Children's Division, Southern Adelaide Local Health Network, Australia.
² Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.
³ Murdoch Children's Research Institute, Melbourne, Australia; Women's and Children's Division, Southern Adelaide Local Health Network, Australia; Australian Genomics Health Alliance, Melbourne, Australia; Department of Pathology. University of Melbourne, Australia.
⁴ Murdoch Children's Research Institute, Melbourne, Australia; Women's and Children's Division, Southern Adelaide Local Health Network, Australia.
⁵ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
⁶ Department of Paediatrics, University of Melbourne, Australia; Women's and Children's Division, Southern Adelaide Local Health Network, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
⁷ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics Health Alliance, Melbourne, Australia. Electronic address: ilias.goranitis@unimelb.edu.au.

PMID: 38164890
DOI: 10.1016/j.gim.2023.101058

Abstract

Purpose: Rare disease genomic testing is a complex process involving various resources. Accurate resource estimation is required for informed prioritization and reimbursement decisions. This study aims to analyze the costs and cost drivers of clinical genomic testing.

Methods: Based on genomic sequencing workflows we microcosted limited virtual panel analysis on exome sequencing backbone, proband and trio exome, and genome testing for proband and trio analysis in 2023 Australian Dollars ($). Deterministic and probabilistic sensitivity analyses were undertaken.

Results: Panel testing costs AUD $2373 ($733-$6166), and exome sequencing costs $2823 ($802-$7206) and $5670 ($2006-$11,539) for proband and trio analysis, respectively. Genome sequencing costs $4840 ($2153-$9890) and $11,589 ($5842-$16,562) for proband and trio analysis. The most expensive cost component of genomic testing was sequencing (36.9%-69.4% of total cost), with labor accounting for 27.1%-63.2% of total cost.

Conclusion: We provide a comprehensive analysis of rare disease genomic testing costs, for a range of clinical testing types and contexts. This information will accurately inform economic evaluations of rare disease genomic testing and decision making on policy settings that assist with implementation, such as genomic testing reimbursement.

Keywords: Genomics; Health Policy; Health care Financing; Microcosting; Rare Disease.

MeSH terms

Australia
Exome* / genetics
Family
Genomics
Humans
Rare Diseases* / diagnosis
Rare Diseases* / genetics