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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek-Boukhibar1, Emma Clement2, Wendy D Jones2

  • 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

Journal of Medical Genetics
|July 28, 2018
PubMed

Insights

Rapid whole genome sequencing (WGS) aids diagnosis for critically ill children. This approach successfully identified genetic causes in 42% of cases, informing clinical management and improving care in a UK National Health Service setting.

Area of Science:

  • Genomics
  • Paediatric Intensive Care
  • Rare Diseases

Background:

  • Rare genetic conditions are a significant cause of paediatric intensive care unit (PICU) admissions.
  • Definitive genetic diagnoses are crucial for effective compassionate care but are often delayed.
  • Current whole genome sequencing (WGS) diagnostic timelines can take months, hindering timely clinical management.

Purpose of the Study:

  • To develop and implement an end-to-end workflow for rapid whole genome sequencing (WGS) in critically ill children within the UK National Health Service (NHS).
  • To enable faster genetic diagnosis to inform clinical management for critically ill children with suspected rare genetic conditions.

Main Methods:

  • Establishment of a multidisciplinary Rapid Paediatric Sequencing team.
  • Utilisation of trio whole genome sequencing (WGS) for affected children and their parents.
  • Implementation of rapid bioinformatics analysis and a phased reporting system prioritizing high-likelihood causal genes.

Main Results:

  • Trio WGS yielded a molecular diagnosis in 10 out of 24 (42%) critically ill children.
  • In 30% of diagnosed cases, the genetic result directly impacted clinical management.
  • Provisional diagnoses were achieved rapidly, with the shortest time being 4 days (median 8.5 days).

Conclusions:

  • Rapid WGS is a feasible and effective diagnostic tool for critically ill children in a clinical NHS setting.
  • The developed workflow facilitates timely genetic diagnosis and informs clinical management.
  • This approach has the potential to be implemented across the NHS and other global healthcare systems.
Abstract

Keywords:
genomicspaediatric intensive care unitrapid diagnosisrare diseasewhole genome sequencing

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