Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

ABSTRACT:

Purpose

With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations.

Methods

We performed trio whole genome sequence (WGS) analysis on a prospective cohort of families recruited in NICU and PICU at a single site in the UK. We developed a research pipeline in collaboration with the National Health Service to deliver validated pertinent pathogenic findings within 2-3 weeks of recruitment.

Results

A total of 195 families had whole genome analysis performed (567 samples) and 21% received a molecular di

SUBMITTER: French CE 

PROVIDER: S-EPMC6483967 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature