australian genomics sinclair - session... · 2018. 6. 6. · brca challenge amanda spurdle, gunnar...
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Australian Genomics
NHMRC Targeted Call for Research: $25M 2016-2020(Leveraged $120M)
Andrew Sinclair International Clinical Cardiovascular Genetics ConferenceBrisbane, 25 May 2018
• Provide strategies to government for the equitable and effective delivery of genomic medicine in healthcare.
Our Purpose
• Ensure genomic and medical data is stored safely and shared responsibly
• Build Australia’s research and clinical expertise in genomic medicine.
• Enhance Australia’s gene discovery, functional genomics and drug discovery research capacity.
• Advance a new era in clinical delivery where the patient is informed, involved and empowered.
• Promote ethical, legal and social responsibility in the application of genomic knowledge.
Shared models, common leads
Building evidence +
infrastructure
Mapping + piloting approaches
Global reach
Standardising practices + policy
Sequencing, diagnostics + data
infrastructure
Addressing ethical, legal & social implications
Melbourne Genomics Health Alliance formed
Queensland Genomics Health Alliance commenced
Sydney Genomics Collaborative commenced
2013 2014 20152014 2016 2016
Australian Genomics formed
2016
Melbourne Genomics Health Alliance gov + partner funding launched
Australian Genomics commenced
2017
Canberra Clinical Genomics launched
2017
Zero Childhood Cancer launched trials
SA Genomics Health Alliance
formed
2017
Genomic InitiativesLINKED AND COLLABORATIVE
Australian Genomics modelNATIONAL PROGRAMS, FLAGSHIPS AND PROJECTS
genomicsandhealth.org
Australian Genomics80 PARTNER INSTITUTIONS
KEY ACTIVITY HUBS
Australian Genomics sites
Royal Children’s HospitalThe AlfredSt Vincent’s HospitalRoyal Women’s Hospital
Austin HealthMonash Health
Royal Hospital for WomenRoyal Adelaide
Women’s and Children’s
Princess Margaret Hospital for Children
Royal Perth
Royal Brisbane and Women’sLady Cilento Children’sThe Wesley
Royal Hobart
Sir Charles Gairdner King Edward Memorial
Royal MelbournePeter MacCallum
Canberra Hospital
Liverpool HospitalChildren’s Hospital Westmead
Westmead (Adult)Prince of Wales
Royal Prince Alfred
Princess Alexandra
Fiona Stanley Hospital
John Hunter
St Vincent’s
Royal Darwin Hospital
Sydney Children’s Hospital
Nepean Hospital
Australian Genomics30 CLINICAL RECRUITMENT SITES WITH ETHICS
Australian Genomics growth PROGRAMS, FLAGSHIPS AND PROJECTS 2018
National FlagshipsRARE DISEASES
2016 – end 2018
Neuromuscular Disorders
Mitochondrial Diseases
Neurodevelopmental Disability
• Epileptic Encephalopathy
• Brain Malformations & Leukodystophies
• Intellectual Disabilities
KidGen Renal Genetics
Genetic Immunology
NEW! 2018 – end 2020chILDRANZ INTERSITIAL LUNG DISEASES
Acute Care Genomics
Cardiovascular Genetic Disorders
KidGen HIDDEN Renal Genetics
National FlagshipsCANCERS
2016 – end 2020iPredict - Targeted Treatment on Clinical Gene Panels (Somatic cancers)*ends 2018
Cancer Risk in the Young (Paeds/AYA)(Germline cancers in children and young adults)
Acute Lymphoblastic Leukaemia
Hereditary Cancer Syndromes NEW! 2018 – end 2020Cancer Flagship(s) to be announced
genomicsandhealth.org
Program One: National Diagnostic & Research Network
• Clinical Variant Re‐Classification• National Clinical Genomic Consent• MSAC Application Pipeline• Functional Genomics• Genomics in the Community• Proposed new project
–Mainstreaming Genomic Reporting
genomicsandhealth.org
Program Two ‐ Data Federation & Analysis
• Clinical Variant Classification & Sharing • Variant Atlas Gen‐Phen • Phenotype Ontologies• Pipeline and Quality Control• Genomic Data Repository & Data Governance• Participant Portal & Dynamic Consent
genomicsandhealth.org
Program Three – Evaluation, Policy & Ethics
• Policy • Implementation Science & Social Network Analysis
• Health Economics• Ethics
genomicsandhealth.org
Program Four – Workforce & Education
CURRENT LANDSCAPE• Progress to date– Reported on mapping Australian genomics education resources
– Mapping international genomics education resources (for GA4GH)
– Convened workshop: 24 international genomics education/evaluation experts
– Draft program logic and evaluation framework developed
• Plans for 2018 –Prepare report of international genomics education resources
–Table results with GA4GH in May establish a ‘home’ for methodology and database
Australian Genomics • Genomics policy landscape
& • Australian Genomics alignment with National Health Genomics Policy Framework
Data
Responsible collection, storage, use and
management of genomic data
The application of genomic knowledge is ethically, legally and socially responsible and community trust is promoted.
PRINCIPLES Access and equity are promoted for vulnerable populations.
The application of genomic knowledge to health care is supported and informed by evidence and research.
STRATEGIC PRIORITY AREAS
Person‐centred approach
Delivering high‐quality care for people through a person‐centred approach to integrating genomics
into health care
Workforce
Building a skilled workforce that is literate
in genomics
Financing
Ensuring sustainable and strategic investment in cost‐
effective genomics
Services
Maximising quality, safety and clinical utility of genomics in
health care
Collaborative governance and leadership
Stakeholder engagement
National and international partnerships
ENABLERS OF
SUCCESS
National Health Genomics Policy FrameworkHELPING PEOPLE LIVE LONGER AND BETTER
THROUGH APPROPRIATE ACCESS TO GENOMIC KNOWLEDGE AND TECHNOLOGY TO PREVENT, DIAGNOSE, TREAT AND MONITOR DISEASE.
MISSION To harness the health benefits of genomic knowledge and technology into the Australian health system in an efficient, effective, ethical and equitable way to improve individual and population health.
VISION
Australian GenomicsEvolution and Expansion
genomicsandhealth.org
GA4GH Mission
To accelerate progress in human health by establishing a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data.
To accelerate progress in human health by establishing a common framework of harmonized approaches to enable effective and responsible sharing of genomic and clinical data.
“No one country can do this alone”
500+ partners
Across 71 countries
Supported by NIH, Wellcome Trust, Broad Institute, OICR, Canada
genomicsandhealth.org
2017 Driver Project Champions
BRCA Challenge Amanda Spurdle, Gunnar Rätsch, Sean Tavtigian, Benedict Paten, David Goldgar, Melissa Cline
Matchmaker Exchange Kym Boycott, Ada Hamosh, Heidi Rehm
Elixir Beacons Serena Scollen, Ilkka Lappalainen, Michael Baudis
VICC Obi Griffith, David Tamborero, Malachi Griffith
Genomics England Augusto Rendon, Peter Counter
Australian Genomics Kathryn North, Clara Gaff
All of Us / PMI Anthony Philippakis, David Glazer
CanDIG Mike Brudno, Steven Jones
Genomic Data Commons Christina Yung, Robert Grossman
ClinGen Heidi Rehm
ICGCmed Vincent Ferretti, Lincoln Stein
ENA/EVA/EGA Thomas Keane, Jordi Rambla, Dylan Spalding, Cristina Yenyxe Gonzalez
Monarch Initiative Melissa Haendel, Peter Robinson, Tudor Groza
Common Themes• Government investment• Implement genomic testing in the clinical
setting• Hybrid implementation-effectiveness design
‘Integrating genomics into healthcare: a global responsibility’
North K, Stark Z, et alNEJM (submitted)
21
>USD$4billion invested by >14 governments in
national genomic medicine initiatives
Over the next 5 years, genomic data from more than 60million patients will be
generated from healthcare
Are we ready for the volume,
complexity and responsibility to
share on a global scale?
Genomics Health Futures Mission• Federal Budget 2018 (MRFF) $500M over 10 years
• “N = 200,000 Australians”
• New / expanded clinical flagship studies {rare diseases, rare
cancers, complex genetic conditions}
• Increased academic / researcher collaboration and new careers
• Co-investment with philanthropy & business
• Community dialogue; privacy, legal, social, familial impacts
• Analytical power – national standards