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The Future of Precision Medicine in Australia

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The Future of Precision Medicine in Australia THE FUTURE OF PRECISION MEDICINE IN AUSTRALIA HORIZON SCANNING i EXPERT WORKING GROUP Professor Robert Williamson AO FRS FAA FAHMS (Chair) Professor Warwick Anderson FAHA FASSA FAHMS Dr Stephen Duckett FASSA FAHMS Professor Ian Frazer AC FRS FAA FTSE FAHMS Dr Carrie Hillyard FTSE Professor Emma Kowal Professor John Mattick AO FAA FRSN FAHMS Professor Catriona McLean FAHMS Professor Kathryn North AM FAHMS Mr Adrian Turner © Australian Council of Learned Academies (ACOLA) ISBN 978-0-9943738-7-8 (print) ISBN 978-0-9943738-8-5 (digital) This work is copyright. All material published or otherwise created by the Australian Council of Learned Academies (ACOLA) is licensed under a Creative Commons – Attribution-Non- Commercial 4.0 International (CC BY-NC 4.0) licence. DATE OF PUBLICATION January 2018 PUBLISHER Australian Council of Learned Academies Level 1, 1 Bowen Crescent Melbourne Victoria 3004 Australia Telephone: +61 (0)3 9864 0923 www.acola.org.au SUGGESTED CITATION Williamson, R., Anderson, W., Duckett, SJ., Frazer, IH., Hillyard, C., Kowal, E., Mattick, JS., McLean CA., North, KN., Turner, A., Addison, C., (2018). The Future of Precision Medicine in Australia. Report for the Australian Council of Learned Academies, www.acola.org.au. REPORT DESIGN Lyrebird [email protected] AUTHORS Professor Robert Williamson AO FRS FAA FAHMS (Chair) Professor Warwick Anderson FAHA FASSA FAHMS Dr Stephen Duckett FASSA FAHMS Professor Ian Frazer AC FRS FAA FTSE FAHMS Dr Carrie Hillyard FTSE Professor Emma Kowal Professor John Mattick AO FAA FRSN FAHMS Professor Catriona McLean FAHMS Professor Kathryn North AM FAHMS Mr Adrian Turner Supported by Dr Courtney Addison and the contributions of many experts throughout Australia and New Zealand as acknowledged throughout the report. A full list of contributors can be found in the written submissions section of the report. PROJECT MANAGEMENT Dr Angus Henderson Dr Lauren Palmer HORIZON SCANNING AUSTRALIA’S LEARNED ACADEMIES Australian Academy of the Humanities Australian Academy of Science The Australian Academy of the Humanities The Australian Academy of Science (AAS) is a (AAH) advances knowledge of, and the pursuit private organisation established by Royal Charter of excellence in, the humanities in Australia. in 1954. It comprises more than 500 of Australia’s Established by Royal Charter in 1969, the leading scientists, elected for outstanding Academy is an independent organisation of contributions to the life sciences and physical more than 600 elected scholars who are leaders sciences. The Academy recognises and fosters and experts in the humanities disciplines. science excellence through awards to established The Academy promotes the contribution of and early career researchers, provides evidence- the humanities disciplines for public good based advice to assist public policy development, and to the national research and innovation organises scientific conferences, and publishes system, including their critical role in the scientific books and journals. The Academy interdisciplinary collaboration required to represents Australian science internationally, address societal challenges and opportunities. through its National Committees for Science, and The Academy supports the next generation fosters international scientific relations through of humanities researchers and teachers exchanges, events and meetings. The Academy through its grants program, and provides promotes public awareness of science and its authoritative and independent advice to school education programs support and inspire governments, industry, the media and the primary and secondary teachers to bring inquiry- public on matters concerning the humanities. based science into classrooms around Australia. www.humanities.org.au www.science.org.au Working Together | ACOLA The Australian Council of Learned Academies (ACOLA) combines the strengths of the four Australian Learned Academies: Australian Academy of the Humanities, Australian Academy of Science, Academy of Social Sciences in Australia, and Australian Academy of Technology and Engineering. Academy of Social Sciences in Australia Australian Academy of The Academy of the Social Sciences in Australia Technology and Engineering (ASSA) promotes excellence in the social sciences in The Australian Academy of Technology and Australia and in their contribution to public policy. Engineering (ATSE) advocates for a future in which It coordinates the promotion of research, teaching technological sciences and engineering and and advice in the social sciences, promotes national innovation contribute significantly to Australia’s and international scholarly cooperation across social, economic and environmental wellbeing. The disciplines and sectors, comment on national needs Academy is empowered in its mission by some 800 and priorities in the social sciences and provides advice Fellows drawn from industry, academia, research to government on issues of national importance. institutes and government, who represent the Established in 1971, replacing its parent brightest and the best in technological sciences body the Social Science Research Council of and engineering in Australia. Through engagement Australia, itself founded in 1942, the Academy by our Fellows, the Academy provides robust, is an independent, interdisciplinary body of independent and trusted evidence-based advice elected Fellows. The Fellows are elected by their on technological issues of national importance. We peers for their distinguished achievements do this via activities including policy submissions, and exceptional contributions made to the workshops, symposia, conferences parliamentary social sciences across 18 disciplines. briefings, international exchanges and visits and the publication of scientific and technical reports. The Academy is an autonomous, non- The Academy promotes science and maths governmental organisation, devoted education via programs focusing on enquiry- to the advancement of knowledge and based learning, teaching quality and career research in the various social sciences. promotion. ATSE fosters national and international www.assa.edu.au collaboration and encourages technology transfer for economic, social and environmental benefit. www.atse.org.au By providing a forum that brings together great minds, broad perspectives and knowledge, ACOLA is the nexus for true interdisciplinary cooperation to develop integrated problem solving and cutting edge thinking on key issues for the benefit of Australia. ACOLA receives funding from the Australian Government Department of Education and Training. www.acola.org.au HORIZON SCANNING SERIES We live in a time of rapid change. Change that is driven by developments in science and technology, and challenged by our capacity to adapt in the present and prepare for the future. Commissioned by the Commonwealth Science Council and Australia’s Chief Scientist, Horizon Scanning reports present independent and timely analyses to guide decision-makers through the decade ahead. Horizon Scanning reports by the Australian Council of Learned Academies (ACOLA) draw on the deep disciplinary expertise from within Australia’s Learned Academies to analyse the future, navigate change and highlight opportunities for the nation. As interdisciplinary studies, ACOLA’s reports include economic, social, cultural and environmental perspectives to provide well-considered findings that inform complete policy responses to significant scientific and technological change. Also in the Horizon Scanning Series The role of energy storage in Australia’s future energy supply mix Published 2017 Synthetic biology in Australia: An outlook to 2030 In preparation CONTENTS Lists of figures, tables and boxes i–ii Project aims 1 Executive summary 2 Key findings 8 Introduction 14 Chapter 1: Current actions, alliances and initiatives 18 1.1 Australia 18 1.1.1 National Health Genomics Policy Framework 19 1.1.2 Major Australian medical genomics programs and consortia 20 1.1.3 CSIRO initiatives 22 1.1.4 Existing genome sequencing resources 22 1.1.5 Existing clinical and professional staff resources 24 1.2 International initiatives 29 Chapter 2: The future of precision medicine in Australia 32 2.1 Introduction 32 2.2 Emerging sequencing technologies 34 2.2.1 Short-read sequencing 34 2.2.2 Long-read sequencing 35 2.2.3 Nanopore technology 35 2.2.4 Sequencing in Australia 36 2.3 Gene editing 36 2.4 Epigenetics 38 2.5 Omics 40 2.6 Microbiomics 43 2.7 Point-of-care testing 45 2.8 Infectious disease 47 2.8.1 Outbreak monitoring and pathogen emergence 47 2.8.2 Genomic epidemiology and investigating antimicrobial resistance 48 2.8.3 Metagenomic discovery of new human pathogens 48 2.8.4 The Australian context for precision infectious disease strategies 48 2.9 Pathology 49 2.9.1 Anatomical pathology 49 2.9.2 Circulating tumour DNA 50 2.9.3 Imaging 50 2.10 Immunotherapy 51 2.11 Precision medicine in primary care 53 2.11.1 Complex diseases 54 2.11.2 Primary care considerations 57 2.12 Age-related disease 57 2.13 Mental health 58 Chapter 3: Professional development and public engagement 60 3.1 Professional development 60 3.1.1 Literacy and the need for professional development 60 3.1.2 Genomics training and education in Australia 62 3.2 Public engagement 64 3.2.1 Framing precision medicine as an object of public engagement 64 3.2.2 Engagement issues with precision medicine 66 3.2.3 Lessons from public engagement with emerging and health technologies 67 3.2.4 Opportunities for public engagement 67 Chapter 4: Social
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