Improving Diagnosis for Patients with Rare Genetic Disease
Three speakers from leading institutions will outline how they have improved diagnostic yield and case throughput in their clinics, across three different medical specialties.
Using case examples, the speakers will show how they have streamlined diagnosis in fetal abnormalities, epilepsy and complex neuropathy in everyday clinical practice, and for the UK 100,000 Genomes Project.
Time: 12:15 – 13:45 I Saturday 15th June
Location: Room A-4 I Swedish Exhibition & Congress Center
Lunch will be provided
- Clinical Utility of Prenatal Exome Sequencing: Achieving a high diagnostic yield with careful patient ascertainment
Dr Tessa Homfray, Consultant, Medical Genetics
St George’s University Hospital
- Maximizing Diagnostic Yield: Application of a variant interpretation platform to a cohort of patients with epilepsy and learning disability
Robert Carton, Postdoctoral Research Fellow
Royal College of Surgeons Ireland (RCSI)
- The use of Sapientia for the analysis of cases from the 100,000 Genomes project in a clinical diagnostic setting
Sarah Mackenzie, Clinical Scientist
Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust[/fusion_imageframe]
Why You Should Attend
If you are currently interpreting complex genomic data, this meeting will be an essential part of your conference.
By attending this session you will gain an invaluable understanding of best-practice techniques to increase your genomic interpretation throughput and diagnostic confidence.
You will hear first-hand from Centres of Excellence using world-leading clinical decision support software, and see real-life examples of how new technology is empowering genomic medicine to provide life-changing answers for patients.
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