The Age of Personalised Medicine Are We Ready?

Transcription

1 CSO s Scientific Meeting, FCI, 7 th March 2017 The Age of Personalised Medicine Are We Ready? Phil Beales Professor of Medical and Molecular Genetics Head of UCL Personalized Medicine Domain UCL Great Ormond Street Institute of Child Health London p.beales@ucl.ac.uk

2 Human Genome Mapping Project

3 Identification of Mendelian disorder genes New publications / quarter Genes identified by technology

4 DNA Sequencing in Healthcare

5 Noninvasive Prenatal Testing Down syndrome Trisomy 18 Trisomy 13 Sex chromosome conditions Microdeletions

6 Liquid Biopsies

7 Fabian Kurth and Matthias Deissinger - Bristol-Myers Squibb

8 epilepsygenetics.net

9 Big Data Genomics Challenge Bottleneck shifted from data generation to handling 10 petabytes of storage required for 100,000 human genomes (50x ~100GB each) Total amount gathered doubles every 7 months $100 pa storage cost per genome Sequencing cheaper > data deluge Compression solutions threatened by singlecell sequencing Best long-term storage solution - DNA Techuk.com

10

11 P4 Medicine

12 Personalised medicine: tailored treatments One treatment for all Personalised clinical management Bayer HealthCare, Bayer Pharma

13 Genetic testing for drug response: Cytochrome P450 enzymes Family of >50 enzymes Involved in metabolism of most drugs Warfarin, beta-blockers, anti-epileptic and anti-depressants Genetic polymorphisms can influence drug metabolism and response

14 Human Panorome Topol Cell

15 Integrated Personal Omics Profiling - Snyderome Genome data identified variants associated with increased disease risk Coronary artery disease Basal cell carcinoma Hypertriglyceridemia Type 2 diabetes Chen et al. CELL 2012

16 Personalised Medicine for Rare Diseases Combine genomic, clinical and molecular phenotype information in patients with rare diseases Identify biomarkers Disease progression specific complications Response to treatment Stratify patients for appropriate / new treatments Identify key molecular pathways and modifiers Novel targets for therapy

17 Protein RNA Tissue biopsy DNA Plasma / Serum Blood Cells Urine DNA RNA Protein Genomics Whole genome sequencing Methylomics Methylation array Transcriptomics mrnaseq Non-codingRNAseq Proteomics Metabolomics Mass Mass spectrometry spectrometry Targeted assays

18 Clinical descriptors Blood Results Histology Investigations Imaging Family History Treatment Received Metrics Other Info

19 170 patients 15TB (30TB) 7 rare diseases 80 genomes 15TB (30TB) 450 RNA-Seq 200 targeted gene panels 100 methylomes 20TB (40TB) 150 Soma Scan 230 Mass Spec 60 microrn A 50Tb data

20

21 $18.8B Health Tracking

22 Genomics Anywhere Real time device for DNA and RNA sequencing Analysis can be performed during the experiment Can generate 5-10Gb of DNA sequence data Not constrained to a laboratory - International Space Station Affordable - $1,000

23

24 Ancestry

25 Ancestry

26 100K Wellness Project This is very exciting because conceptually and technically, it s reached a real tipping point where we re in a position to fundamentally change how healthcare is practiced. -Dr. Lee Hood, President and Cofounder, ISB Genomics, proteomic, epigenetic, metabolomic and microbiomics 100K persons blood, saliva and stools

27

28 Human Longevity Inc.

29 Can EHRs Handle Genomics? Challenge defined by 5 categories: 1. Which data to store Raw data (TB) 2-40 EB predicted Rapid retrieval Current systems incapable (Eric Green) Store raw outside EHR ($) 2. Standardisation National standards shared and stored (GEL) Terminology, interoperability, transfer methods Implementation guidelines (HL7) genetic test reports 3. Privacy, policies and practices are weak Stolen data discrimination, undisclosed paternity, targeted adverts Identifying individuals through genomics data is not difficult Legislation is piecemeal 4. User-friendly systems required Genetic data as pdfs is usually dormant Customisable EHRs create impromptu reports, better search tools 5. Education and training Primary care physicians have poor understanding of genetics Point of care support tools inadequate EHR data is pure needs reviewing and interpreting first Comprehensive care plan health risks, family Hx, pre-existing conditions and genomic data

30 Data Security 100M American medical records hacked in 2016 Health records are worth up to 10 times more than credit card numbers A single Medicare or Medicaid electronic health record can fetch $500 Social security number, all the addresses, their children, their jobs, life insurance

31 Take Home Messages Promise of Personalised Medicine underpinned by genomics revolution drug discovery Storage of genomic data overwhelming/expensive MultiOmics will add to data loads Rise of citizen-driven health data Electronic Health Records fit for purpose? Lack of regulation Security public need reassuring

32 Acknowledgements Chiara Bacchelli High-5 Team Dan Kelberman Georg Otto Federico Minneci Xueting Wang Rosie Davies Gagan Madhan Jasmine Gratton Stef Dowle GOSgene Helsinki Institute for Information Technology -Sami Kaski -Tomi Peltola -Taru Tukiainen UCL Genomics UCL Biological Mass Spectrometry Centre GOSH/UCL NIHR Biomedical Research Centre emedlab Beijing Genomics Institute SomaLogic OLink