Journal article

Rapid genomic testing for critically ill children: time to become standard of care?

Zornitza Stark, Sian Ellard

EUROPEAN JOURNAL OF HUMAN GENETICS | SPRINGERNATURE | Published : 2021

Abstract

Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a '..

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