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.
Overview
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
