This event was originally held on 4th & 5th February 2021 on zoom and brought together experts in rapid NGS from all areas of the UK and Ireland to share their experiences of setting up such a clinical service and to build best practices to allow national standards to be applied.


Delegate Pack

Click image to view/download the Delegate Pack

The role of Next Generation Sequencing (NGS) in clinical diagnostics of patients with rare genetic diseases over the past decade has been transformative. Almost all genetic diagnoses are now made using a form of NGS, be that a gene panel, an exome (all coding genes) or the whole genome. This has led to research into novel ways to exploit this technology to improve the rate of diagnoses and to improve patient benefit.

One area where this research is proving to be highly beneficial is the rapid diagnosis of acutely ill children in Intensive Care Units (ICU). In the UK this work was pioneered by Dr Hywel Williams working with clinical teams from Great Ormond Street Hospital. Currently, the All Wales Medical Genomics Service (AWMGS) is the only NHS authority offering rapid whole genome NGS to sick children as part of their WINGS study.

Programme themes:

  • Rapid neonatal whole exome sequencing
  • Prenatal exome analysis
  • Ethical considerations of rapid diagnostic testing
  • Bioinformatic challenges


Session 1: Rapid NGS Diagnostics

Rapid Genome sequencing – Informed care for critically ill children


Dr Stephen Kingsmore

Rady Children’s Institute for Genomic Medicine, San Diego California


Delivering a national paediatric rapid genomics program: the Australian experience


Professor Zornitza Stark

Australian Genomics Health Alliance, Melbourne


Implementation of the Wales’ Infants and Children’s Genome Service


Dr Sian Corrin

All Wales Medical Genomics Service, Cardiff


Early testing for acutely ill children: the national NHS Rapid Exome Sequencing Service


Dr Julia Baptista

Royal Devon and Exeter NHS Foundation Trust & University of Exeter


Session 2: Rapid Prenatal Screening

Impact of NGS on prenatal diagnosis


Dr Natalie Chandler

Great Ormond Street Hospital, London


Prenatal Diagnosis in the era of Genomic Medicine


Dr Suzanne Drury

Congenica Ltd


Session 3: Clinical Implications

Clinical aspects of WINGS


Nicola Taverner

All Wales Medical Genomics Service


Rapid genomic testing in critically ill children: A new paradigm for genomic testing Managing risk and uncertainty, a perspective from the literature


Dr Isabelle Delon

NHS East Genomic Laboratory Hub, Cambridge


Session 4: Addressing Current Issues

Use of transcriptomics for undiagnosed patients


Dr Lamia Mestek-Boukhibar

The Zayed Centre for Research into Rare Disease in Children, (UCL), London


Rapid whole genome sequence data analysis – Dragen


Joseph Halstead

All Wales Medical Genomics Service, Cardiff


Genomic analysis in consanguineous cohorts


Ian Berry

Central Laboratory of the Yorkshire & North-East Genomic Laboratory Hub, Leeds