National Healthcare Science Week 2017 What does genomics mean for scientists? Monday 13 March 2017 Dr Thalia Antoniadi Consultant Clinical Scientist West Midlands Regional Genetics Laboratory

Exciting times! What is the cause of the patient’s symptoms? Is ‘this’ the cause of the patient’s symptoms? Healthcare scientists are involved in 80% of all clinical decisions in the NHS Genomes bring new challenges and new roles for the scientists

362 families tested with WES 188 (52%) received a definite molecular diagnosis in a gene known to cause a similar disease or in a gene not previously associated with the family’s disease

Solving the unsolved the ‘genomics’ approach filling the gap unbiased and flexible approach not depending on limited prior knowledge genetic heterogeneity atypical presentation newly discovered genes extreme rare conditions

classification clinical validity clinical utility is this variant causative? is this gene associated with the disease? is this information actionable? clinical validity clinical utility

[whole genome diagnosis] 1800 - 1200 - 600 - 2010 2011 2012 2013 2014 2015 2016 2017

The evolving role of scientists Adopting new technologies Analysis of data Interpretation of sequence variants Multidisciplinary meetings Provide the scientific evidence to support the clinical decision making Collaborations

100,000 Genomes project rare disease and cancer ground breaking resource: combine genomic data with medical records enabling the identification of causes, diagnosis and treatment investigation