DNA Sequencing and Personalised Medicine

Transcription

1 DNA Sequencing and Personalised Medicine Mick Watson Director of ARK-Genomics The Roslin Institute

2 PERSONALISED MEDICINE

3 What is personalised medicine? Personalized Medicine refers to the tailoring of medical treatment to the individual characteristics of each patient to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment. Preventative or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not.

4 What is personalised medicine? A personalized medicine approach to providing health services involves integrating genomics technologies and advances with clinical and family histories in order to more coherently tailor therapeutics to individual patients Issa AM (2007) Personalized medicine and the practice of medicine in the 21st century. Mcgill J Med. 10(1):53-7.

5 The case for Personalised Medicine Report detailing: 72 commercially available prominent personalised medicine products Real-world examples that demonstrate the power of personalised medicine An examination of the technologies that will continue to enable personalised medicine illustrations of collaborative research designed to expand available evidence that personalised medicine can improve patient outcomes

6 GENOMICS

7 Genomics Genome: the entire DNA sequence of an individual Exome: the entire DNA sequence of all genes in an individual Cost of human genome ,000,000 Cost of human genome ,000 Cost of human exome

8 Genomic platforms 2 nd and 3 rd generation sequencing have revolutionised biological research Platforms: Illumina HiSeq 2000 and : Designed for large-scale, whole genome analysis 2500: Designed for rapid sequencing of whole genomes Illumina MiSeq Design for rapid sequencing for infection diagnosis or exome analysis Ion Torrent and Ion Proton Ultra-fast sequencers designed for rapid diagnosis

9 EDINBURGH GENOMICS

10 Edinburgh Genomics The University of Edinburgh houses one of the UK s foremost genome analysis facilities Funders

11 Edinburgh Genomics A local facility with global reach. A facility that offers support from conception to publication to research teams An agile facility, ready to deliver on all scales of projects in partnership with industry and academic partners. A facility rooted in collaborative working that trains and maintains a highly-skilled team of laboratory and bioinformatics specialists. A facility that installs and runs cutting edge instrumentation We can sequence human genomes in 10 days We can sequence a human exome in 48 hours We can sequence custom amplicons in 24 hours We can sequence bacterial and viral populations in 24 hours

12 Current Research Virus discovery Pathogen genomics Host genomics Variation discovery GWAS Host-pathogen interactions Metagenomics Biotechnology

13 GENOMICS IN ACTION

14 Genetics and Flu Research involving University of Edinburgh researchers To test the role of IFITM3 in human influenza virus infection, we assessed the IFITM3 alleles of individuals hospitalized with seasonal or pandemic influenza H1N1/09 viruses. We find that a statistically significant number of hospitalized subjects show enrichment for a minor IFITM3 allele (SNP rs12252-c) these data reveal that the action of a single intrinsic immune effector, IFITM3, profoundly alters the course of influenza virus infection in mouse and humans Everitt AR et al (2012) IFITM3 restricts the morbidity and mortality associated with influenza. Nature. 484(7395):

15 Sequencing and MRSA Research led by University of Edinburgh Researchers We carried out a Bayesian phylogenetic reconstruction on the basis of the genome sequences of 87 S. collected from patients in three continents over a 53-year period phylogeographic analysis indicates that EMRSA-16 spread within the UK by transmission from hospitals in large population centers in London and Glasgow to regional health-care settings, implicating patient referrals as an important cause of nationwide transmission. McAdam PR et al (2012) Molecular tracing of the emergence, adaptation, and transmission of hospital-associated methicillin-resistant Staphylococcus aureus. PNAS 109(23):

16 It s not just infectious diseases. Kits exists for sequencing important genes in Cancer Autism Cardiomyopathy Inherited diseases Whole exomes Mayer AN et al (2011) A timely arrival for genomic medicine. Genet Med (3): Worthey EA et al (2011). Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 13(3):

17 SUMMARY

18 Summary Genomics will revolutionise healthcare We can enable this by improving communication Clinicians Genomicists Edinburgh genomics and personalised medicine We are here; we are ready; we can do it; let s talk Key contacts mark.blaxter@ed.ec.uk david.porteous@ed.ac.uk mick.watson@roslin.ed.ac.uk (@BioMickWatson)