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

Genomics and Healthcare A global and local perspective

The Global Alliance for Genomics and Health

National Genomics Healthcare Initiative

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

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genomicsandhealth.org

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

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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

genomicsandhealth.org

2014

March: 1st 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: 2nd plenary meeting and four Working Groups met in San Diego: 250+ participants

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Partner overview

250+ • 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

6 • 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

26 • 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.

Steering Committee

David Altshuler, Chair Broad Institute, MGH

Martin Bobrow, Vice Chair University of Cambridge

Kathryn North, Vice Chair Murdoch Childrens Research Institute Clinical Working Group

Paul Flicek European Bioinformatics Institute SecurityWorking Group

David Haussler University of California, Santa Cruz Data Working Group Thomas J Hudson Ontario Institute for Cancer Research Global Outreach

Kazuto Kato Osaka University Regulation and Ethics Working Group

Bartha Maria Knoppers McGill University Regulation and Ethics Working Group

Elizabeth Nabel Brigham and Women’s Hospital

Brad Margus Genome Bridge Public engagement

Charles L Sawyers Memorial Sloan Kettering Cancer Center Clinical Working Group

Peter C. Goodhand. Executive Director Global Alliance for Genomics and Health

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

genomicsandhealth.org

Related Initiatives – CWG Task Teams

genomicsandhealth.org

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)

Multiple disconnected

solutions

Matchmaker Exchange

Gene Matcher

DECIPHER

LOVD

Café Variome

Undiag. Diseases Program

Phenome Central

GEM.app

ClinGenDB

Website: http://genomicsandhealth.org

Genomics and Healthcare A global and local perspective

The Global Alliance for Genomics and Health

National Genomics Healthcare Initiative

Melbourne Genomics Health Alliance

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

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

Established clinically-led whole of system prototype

Needs from many aspects

Clinicians Patients Ethics IT

Geneticists

Sequencing Laboratories IP

Diagnostics

Hospitals

Databases

Programmers

Pathology

Bioinformaticians

Demonstration Project

Systems operational

Variant Curation Database

Common Bioinformatics

Pipeline Multidisciplinary

review (16)

Agreed (draft) standards, guidelines, templates

Bioinformatics and Genomics Advisory group Co-Chairs - Alicia Oshlack, Graham Taylor

Clinical Interpretation and Reporting advisory group Chair: Paul James

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

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

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

Programs

Better diagnosis to guide early intervention & prevention Clinical registries | Diagnostic pipelines | Functional genomics

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

National data sharing and bioinformatics resource Bioinformatic pipelines | Data Governance | Bioinformatics workforce

Program 1

Program 2

Program 3

Program 4

+ Health

Economic Research

Workforce Building

Policy

Equity of access

Education

Innovation

Diagnosis (clinical cohorts)

Screening for known genes

Patient Care (Clinical trial ready

cohorts)

Research Gene Discovery

Functional Validation

National Collaborative Diagnostic and Research

Network

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