Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
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
Whole Genome Sequencing: Early Diagnostic Tool in Newborns with Refractory Seizures.
Sign Up to like & getrecommendations! Published in 2022 at "NeoReviews"
DOI: 10.1542/neo.23-1-e49
Abstract: Neonatal patients and families from historically marginalized and discriminated communities have long been documented to have differential access to health care, disparate health care, and as a result, inequitable health outcomes. Fundamental to these processes… read more here.
Keywords: health; genome sequencing; care; whole genome ... See more keywords