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A microsimulation model was used to estimate the cost effectiveness of four genetic testing strategies in paediatric patients (< 18 years) with ASD from societal and public payer perspectives in Ontario, Canada, over a two-year time horizon: CMA, CMA followed by exome sequencing in those with negative CMA and syndromic features (CMA+ ES), or first-line testing with exome sequencing or genome sequencing (GS). From a societal perspective, compared with CMA alone, incremental cost-effectiveness ratios (ICERs) per additional patient identified with rare pathogenic variants within 18 months after diagnosis of ASD were $5997.8* with CMA+ ES, $13 504.2 with exome sequencing, and $10 784.5 with genome sequencing. All three comparator strategies were cost effective at the willingness-to-pay threshold of $20 000 per patient identified with a pathogenic variant, but only CMA+ ES appeared cost effective at a …