West Midlands Regional Genetics Laboratory National Healthcare Science
West Midlands Regional Genetics Laboratory 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
West Midlands Regional Genetics Laboratory
West Midlands Regional Genetics Laboratory
West Midlands Regional Genetics Laboratory
Exciting times! West Midlands Regional Genetics Laboratory • 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
West Midlands Regional Genetics Laboratory • 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 West Midlands Regional Genetics Laboratory • 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
West Midlands Regional Genetics Laboratory is this variant causative? classification is this gene associated with the disease? is this information actionable? clinical validity clinical utility
![West Midlands Regional Genetics Laboratory [whole genome diagnosis] 1800 - 1200 - 600 -](http://slidetodoc.com/presentation_image/93b9b823d56fc578e37082f5c16c5a95/image-9.jpg "West Midlands Regional Genetics Laboratory [whole genome diagnosis] 1800 - 1200 - 600 -")
West Midlands Regional Genetics Laboratory [whole genome diagnosis] 1800 - 1200 - 600 - 0 2011 2012 2013 2014 2015 2016 2017
![West Midlands Regional Genetics Laboratory 12000 [proteomics] 10000 8000 6000 [metabolomics] 4000 2000 0](http://slidetodoc.com/presentation_image/93b9b823d56fc578e37082f5c16c5a95/image-10.jpg "West Midlands Regional Genetics Laboratory 12000 [proteomics] 10000 8000 6000 [metabolomics] 4000 2000 0")
West Midlands Regional Genetics Laboratory 12000 [proteomics] 10000 8000 6000 [metabolomics] 4000 2000 0 2011 2012 2013 2014 2015 2016 2017
The evolving role of scientists West Midlands Regional Genetics Laboratory • Adopting new technologies • Analysis of data • Interpretation of sequence variants • Multidisciplinary meetings • Provide the scientific evidence to support the clinical decision making • Collaborations
West Midlands Regional Genetics Laboratory 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
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