PPT-Update on 100,000 Genomes Project and look ahead to Genomic Medicine Service

Chris Wragg Lead Cancer Scientist SWGLH 6 th March 2019 Contents 100000 Genomes Project National update Update on the future genomic medicine service National delivery of 100000 Genomes . Genomic Medicine : An emerging medical discipline that involves using genomic information about an individual as part of their clinical care(e.g.,for diagnostic or therapeutic decisionmaking) andtheot Bioinformatics and Genomics. Applications:. Personalized cancer medicines. Disease determination . Pathway Analysis. Biomarker Discovery . An Interesting Point. “One . article estimated that the output from genomics may soon dwarf data heavyweights such as . 2014 Workshop. G . × . E ANALYSIS. Diego . Jarquin. Chicago, IL. December 10. Variance components for common . inbreds. and hybrids. Genomes to Fields . Inbred – Pollen DAP. Inbred – Plant height. Motivation and Inspiration. Green ED, Guyer MS. . . Nature . 2011; 470:204-13.. How are we going to do this?. What is actually going on in the field?. What role should NIH/NHGRI play to support and accelerate progress? . Genomic Medicine. In announcing on June 26, 2000, that the first draft of the human genome had been achieved, President Clinton said it would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”. National Human Genome Research Institute. National Institutes of Health. U.S. Department of Health and Human Services. U.S. Department of Health and Human Services. National Institutes of Health. National Human Genome Research Institute. Hardison. . Genomics 2_2. 1/7/15. 1. Y Chromosome. 3 billion bp = 3 Gb. Chr1 247 Mb. Chr12 132 Mb. Chr22 50 Mb. A human . genome (. male). The . genome. is . all the DNA. in a cell.. All the DNA on all the chromosomes. Genomic Medicine. Update Session. Provided by Catherine Carpenter-Clawson Programme Manager, WE . GMC with Tracie Miles Genomics Champion RUH, Bath.. Courtesy . of . Genomics England. The Human Genome Project. Skin SSG . May 2018. Catherine Carpenter-Clawson, Programme Manager, WE GMC. Courtesy of Genomics England. From . Genetics . to . Genomics. Genetic testing = single gene. (. s. ). or panels. . Exome sequencing = coding DNA . Rachel Butler, Head of Bristol Genetics Laboratory. National delivery of 100,000 . Genomes . P. roject. A remarkable achievement. Genomic Laboratory Hubs. South West Genomic Laboratory Hub (SWGLH). Partnership . post 100,000 . Genomes . Project. Update . – Haem SSG . Nov 2018. Contents. Genetics and genomics. Background to 100,000 Genomes Project. Project progress. What next? Mainstreaming Genomic Medicine. Laura Yarram-Smith. SWGLH Solid Tumour Laboratory Lead. 20/09/2019. Breast Cancer Genomics. Genomics in England and Genomic Lab Hub. Genomic Test Directory. Genomic Biomarkers in Breast Cancer. Future technologies . July 201 MaeÕr ddogfen yma hefyd ar gael yn Gymraeg. This document is also available in Welsh. #$%&'!#%()$*+,-./!01232! 1 Genomics for Precision Medicine Strategy Executive Summary New genetic and g Working together towards a common strategy . Overview. Implementing Genomic Medicine. Vision. Scope & Purpose. Background. SNOMED CT Strategy . (what & how). Strategic objectives. Next steps.