Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
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DOI: 10.1038/s41436-018-0006-8
Abstract: PurposeTo systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses.MethodsWe collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who… read more here.
Keywords: genomic sequencing; follow; sequencing early; diagnostic trajectory ... See more keywords