EE48 Cost-Effectiveness of Alternative Diagnostic Testing Pathways with Whole Exome Sequencing (WES) in a Rare Disease Patient Population: The Canadian Care-for-Rare SOLVE (SOLVE) Multi-Centre Observational Cohort

K Degeling,L Grazziotin Lago,RZ Hayeems,KM Boycott,FP Bernier,R Mendoza-Londono,TA Seeger,D Marshall

VALUE IN HEALTH（2022）

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摘要

Patients suspected of having a rare genetic disease often experience lengthy and costly diagnostic testing pathways. Our objective was to determine the time-to-diagnosis, associated testing costs, and cost-effectiveness for patients with rare disease of suspected genetic etiology who received WES testing at alternative places in the diagnostic pathway.

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关键词

alternative diagnostic testing pathways,rare disease patient population,whole exome,sequencing,cost-effectiveness,care-for-rare,multi-centre

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