ASHG Satellite Event: Solving the unsolved – diagnosing complex clinical cases with confidence
Thursday 17th October
12:45 – 14:00
Room 339AB, Level 3, Hilton Americas-Houston
In this ASHG 2019 satellite event, speakers from international Centers of Excellence outlined how their institutions are optimizing the diagnosis of complex clinical cases in order to provide improved patient outcomes.
Using specific case examples as illustrations the speakers discussed how they have increased their diagnostic yield and efficiency, using gold-standard tools and best practice.
Maximizing Diagnostic Yield: Application of a variant interpretation platform to a cohort of patients with epilepsy and learning disability
Katherine Benson, PhD, Postdoctoral Researcher, Royal College of Surgeons Ireland (RCSI)
The utility of exome sequencing in prenatal oedema phenotypes
Dr Esther Dempsey BSc MBBS MSC MRCPCH, British Heart Foundation Clinical Research Fellow, St George’s University of London
The UK NHS Genomic Medicine Service: Moving on from large cohort projects to embedding exome and genome analysis in routine care
Sarah Turton, Clinical Scientist, West Midlands, Oxford and Wessex Genomic Laboratory Hub