martes, 16 de julio de 2024

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2820969?resultClick=1 From the abstract: "Is diagnosis from genome-wide sequencing associated with reduced health care costs for children with suspected rare diseases? Findings: In this cohort study of 3 groups of children who underwent genome-wide sequencing in England (7775 children in a research study) or Canada (118 children who received publicly funded sequencing and 77 children in a research study), diagnosis from genome-wide sequencing was not associated with changes in health care or diagnostic costs. Meaning: These findings suggest that sustainable clinical implementation of genome-wide sequencing must be motivated by evidence of patient and family benefit and cost-effectiveness rather than promises of cost savings from earlier diagnosis. "

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