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Suzanne has a PhD in Molecular Toxicology from Imperial College London and more than ten years of translational research experience gained at the Royal Marsden Hospital, Breakthrough Breast Cancer, and the NE Thames Regional Genetics Service at Great Ormond Street Hospital for Children. She has designed, developed and tested a range of next-generation sequencing services for implementation in the diagnostic laboratory and worked on multiple research projects across various clinical disciplines. This conference will bring together experts in rapid NGS to share best practice & their experiences of setting up a clinical service .

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.

This conference will bring 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. We will also be joined by Professor Zornitza Stark who will present work on the Australian Genomics Health Alliance. The conference will run over two mornings and cover topics related to rapid NGS diagnostics including the experiences of the AWMGS team running the WINGS study, the ethics of such studies, the bioinformatic challenges and future advancements such as Non-Invasive Prenatal Testing and incorporation of transcriptomics. The event will be free to attend and anyone interested in this cutting-edge application of NGS is strongly encouraged to attend.

Topics include:

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

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