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