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

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. Based on genomic sequencing workflows we microcosted limited virtual panel analysis on exome sequencing (ES) backbone, proband and trio exome (ES-P and ES-T) and genome testing for proband and trio analysis (GS-P and GS-T) in 2023 Australian Dollars ($). Deterministic and probabilistic sensitivity analyses were undertaken. Panel testing costs AUD $2,373 ($733 - 6,166), and exome sequencing costs $2,823 ($802-$7,206) and $5,670 ($2,006-$11,539) for proband and trio analysis respectively. Genome sequencing (GS) costs $4,840 ($2,153-$9,890) and $11,589 ($5,842-$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. 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.

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Copyright © 2023. Published by Elsevier Inc.