Enabling Genomic Medicine 2020: Mainstreaming Genomics
About EGM 2020
Genomic health information is increasingly informing routine clinical care, diagnosis, and treatment for a spectrum of inherited and acquired disorders.
The accessibility of next-generation sequencing has until now outpaced the ability to understand and interpret complex data for clinical use and patient care. Overcoming this “sequencing–interpretation gap” is key to mainstreaming genomics and integrating genetic and genomic health information into routine clinical care.
With increasing improvements in clinical decision support (CDS) technologies, together with major advances in artificial intelligence (AI), the diagnostic odyssey for many patients with rare and undiagnosed disorders is now being improved significantly, demonstrating the transformational effect of genomics in health settings worldwide (Turro et al, Nature, June 2020).
At Enabling Genomic Medicine 2020: Mainstreaming Genomics – we invited global experts and pioneers in the field to speak on how they are are making this vision a reality.
The Clinical Revolution
Dr. Nick Lench, Chief Scientific Officer, Congenica
Clinical Impact of Genomics in Epilepsy
Prof. Sanjay Sisodiya, Director of Genomics & Professor of Neurology, UCL
The Newfoundland and Labrador Genome Project: Overview and Returning Medically Actionable Findings to Participants
Dr. Michael S. Phillips, Chief Scientific Officer, Sequence Bio
Genomics in Fetal Medicine: Past, Present and Future Perspectives
Dr. Tessa Homfray, Consultant in Medical Genetics, NHS St George’s Hospital
Exome diagnostics: Automating Analysis Workflows in a Reference Laboratory
Dr. Miriam León Otegui, Head of Clinical Analysis, Veritas Genetics
Genomics in Medicine: The Future Outlook
Prof. Phil Beales, Head of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health