Genomics and Healthcare A global and local perspective

Transcription

1 Genomics and Healthcare A global and local perspective Kathryn North Director, Murdoch Childrens Research Institute Director, Victorian Clinical Genetics Service David Danks Professor of Child Health Research, University of Melbourne

2 Genomics and Healthcare A global and local perspective The Global Alliance for Genomics and Health National Genomics Healthcare Initiative

3 The opportunity Unparalleled generation of human genetic data Learning from these data, we should accelerate progress in: Understanding the basis of inherited disease More rapid path to diagnosis Increased emphasis on prevention, early intervention Therapies targeted to the individual Identifying targets for drug development 3

4 The challenge Data from millions of samples may be needed to achieve results and progress - showing patterns that would otherwise remain obscure. That will take new methods and organizational models. Right now: Data is typically in silos: by type, by disease, by country, by institution Approaches to regulation, consent and data sharing limit interoperability If we don t act: risk an overwhelming mass of fragmented data, such as electronic medical records in many countries 4 genomicsandhealth.org

5 Mission To accelerate progress in human health by helping to establish a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data, and by catalyzing data sharing projects that drive and demonstrate the value of data sharing

6 2014 March: 1 st plenary meeting of Alliance partners at the Wellcome Trust: 180 participants Increased participation, including patient groups and leading information and life science companies, and expanded global presence All four Working Groups advanced their topics and task teams Engaged with three key projects for real-time, real-world implementation October: 2 nd plenary meeting and four Working Groups met in San Diego: 250+ participants 6 genomicsandhealth.org

7 Partner overview Number of partner organizations Includes a wide variety of groups: Research Institutes, Academic Medical Centers, Universities, Disease Advocacy Organizations and Patient Groups, Funders, Life Science and Information Technology Companies, and more Number of countries in which alliance partners are based: Argentina, Australia, Austria, Belgium, Brazil, Canada, China, Finland, France, Germany, Hungary, India, Ireland, Japan, Mexico, Netherlands, New Zealand, Singapore, Spain, South Africa, Sri Lanka, Sweden, Switzerland, United Kingdom, United States. Number of continents in which alliance partners are active: Active throughout the globe, with a presence in 6 continents: Africa, Asia, Australia, Europe, and North and South America

8 Steering Committee David Altshuler, Chair Broad Institute, MGH David Haussler University of California, Santa Cruz Data Working Group Brad Margus Genome Bridge Public engagement Martin Bobrow, Vice Chair University of Cambridge Thomas J Hudson Ontario Institute for Cancer Research Global Outreach Elizabeth Nabel Brigham and Women s Hospital Kathryn North, Vice Chair Murdoch Childrens Research Institute Clinical Working Group Paul Flicek European Bioinformatics Institute SecurityWorking Group Kazuto Kato Osaka University Regulation and Ethics Working Group Bartha Maria Knoppers McGill University Regulation and Ethics Working Group Charles L Sawyers Memorial Sloan Kettering Cancer Center Clinical Working Group Peter C. Goodhand. Executive Director Global Alliance for Genomics and Health

9 Working Group current projects Regulatory and Ethics: International Code of Conduct for Genomic and Clinical Data Sharing; Preparation of generic consent clauses; Data: Enable exchange of variation in genome sequences across groups Security: Security framework development including specification of technical standards Clinical: Development of a matchmaking toolbox (genotype and phenotype) to enable diagnosis and gene discovery

10 Related Initiatives CWG Task Teams genomicsandhealth.org

11 Progress made in 2014 Matchmaker Exchange The Challenge: >60% of exome sequencing cases unsolved Case data sits in isolated databases. Phenotypic data is underrepresented in most genomic datasets The Solution: A federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (Matchmaking) through application programming interfaces (APIs) genomicsandhealth.org

12 Gene Matcher ClinGenDB DECIPHER GEM.app Multiple Matchmaker disconnected Exchange solutions LOVD Phenome Central Undiag. Diseases Program Café Variome

13 Website:

14 Genomics and Healthcare A global and local perspective The Global Alliance for Genomics and Health National Genomics Healthcare Initiative

15 Melbourne Genomics Health Alliance

16 Demonstration Project- 12 months!! Prospective: WES with targeted analysis in parallel with usual investigations Evaluation: (1) Process: barriers, issues, requirements (2) Performance: diagnosis, cost, time (3) Threshold analysis: conditions for financial viability (4) Health economic analysis n= 200 patients

17 Established clinically-led whole of system prototype Patient engagement Genetic counselling Consent E-access Patient enters lifestyle and socio-economic data Community Advisory Group Clinician involvement Gene lists Recruitment criteria Multidisciplinary review eview Result report format Pipeline development

18 Needs from many aspects Clinicians Patients Ethics Pathology IT Geneticists Diagnostics Bioinformaticians Databases Programmers Sequencing Laboratories Hospitals IP Demonstration Project

19 Systems operational Common Bioinformatics Pipeline Variant Curation Database Multidisciplinary review (16) Bioinformatics and Genomics Advisory group Co-Chairs - Alicia Oshlack, Graham Taylor Agreed (draft) standards, guidelines, templates Clinical Interpretation and Reporting advisory group Chair: Paul James

20 Common vision: transforming healthcare Economic Drivers State based genetics services and funding for genetic testing The dream national approach to funding genetic testing Equity of access

21 What next? National Genomics Healthcare Initiative University of Western Australia Harry Perkins Institute PathWest SA Pathology Womens and Childrens Hospital SA Health & Medical Research Institute Centre for Cancer Biology University of Melbourne Australian Genome Research Facility CSIRO Genetic Health Qld Uni of Queensland (IMB,Diamantina) QIMR Pathology Queensland Sydney Children s Hospital Network Garvan Institute of Medical Research Children s Cancer Institute Australia University of Sydney SEALS Melbourne Children s (MCRI, RCH, VCGS) Walter + Eliza Hall Institute Royal Melbourne Hospital Peter MacCallum Cancer Centre Royal College of Pathologists of Australasia Human Genetics Society of Australasia

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23 Common challenges requiring a national approach Hardware/Storage Expertise/Education Health economics Workforce Policy Data Sharing Common challenges Sharing of best practice Reduce duplication Royal College of Pathologists of Australasia Human Genetics Society of Australasia

24 Programs Program 1 Program 2 Program 3 Program 4 Better diagnosis to guide early intervention & prevention Clinical registries Diagnostic pipelines Functional genomics National data sharing and bioinformatics resource Bioinformatic pipelines Data Governance Bioinformatics workforce Healthcare innovation: preparing Australia s healthcare system and diagnostic workforce for genomic medicine Health economics Policy Diagnostic workforce Education, knowledge translation & implementation Patient engagement Healthcare workforce Support networks

25 + National Collaborative Diagnostic and Research Network Health Economic Research 25 Innovation Diagnosis (clinical cohorts) Workforce Building Research Gene Discovery Functional Validation Screening for known genes Education Patient Care (Clinical trial ready cohorts) Policy Equity of access

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