Journal article

Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis

Lilian Downie, David J Amor, Jane Halliday, Sharon Lewis, Melissa Martyn, Ilias Goranitis

The Laryngoscope | WILEY | Published : 2020


OBJECTIVES/HYPOTHESIS: To assess the relative cost-effectiveness of exome sequencing for isolated congenital deafness compared with standard care. STUDY DESIGN: Incremental cost-effectiveness and cost-benefit analyses were undertaken from the perspective of the Australian healthcare system using an 18-year time horizon. METHODS: A decision tree was used to model the costs and outcomes associated with exome sequencing and standard care for infants presenting with isolated congenital deafness. RESULTS: Exome sequencing resulted in an incremental cost of AU$1,000 per child and an additional 30 diagnoses per 100 children tested. The incremental cost-effectiveness ratio was AU$3,333 per a..

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Funding Acknowledgements

The study was funded by the State Government of Victoria (Department of Health and Human Services) and the 10 member organizations of the Melbourne Genomics Health Alliance.