The Future of Precision Medicine in Australia

1. To examine the transformative role that precision medicine may play in the Australian health care system;

2. To examine the future opportunities and challenges precision medicine may face;

3. To consider the development and application of precision medicine and the use of ‘omics’ technologies in the context of their social, cultural, economic, legal and regulatory implications; and

4. To examine the role of ‘big data’ within precision medicine, as it relates to data integrity and standards, and to explore issues surrounding security and privacy.

1. Australia has a world-class health system, with a strong tradition in public health research and clinical research. The country has significant laboratory and research capability in genomics and functional genomics as basic sciences and as components of laboratory medicine, and in the application of genomics data at the clinical level. Our expertise in this field can be leveraged to establish precision medicine not only within our region but more widely.

2. There is a need to address the social, cultural, ethical, legal and economic issues in parallel with investment in and commitment to precision medicine technologies, and before any attempt to scale these up. Australia has existing capacity in these areas, but further investment will be needed across the humanities, arts and social sciences (HASS) to ensure that the challenges precision medicine will bring, can be met appropriately.

3. Genomics data have the potential to underpin precision medicine. Although genomics will initially dominate the field, metabolomics, transcriptomics, proteomics and other omics approaches will also make significant contributions. There is a need for coordination across omic platforms to ensure an integrated impact of precision medicine. This will require harmonisation at national, state and institutional levels.

4. Australia has an opportunity to lead in precision medicine – in terms of integration into clinical practice; evaluation of cost-effectiveness; and data sharing, security and storage – particularly in this region; but the opportunity is perishable. The ability to connect, collaborate and share data and information within Australia and internationally will be important in progressing precision medicine. The importance of aggregating genomic and related data with health care outcomes cannot be overstated; this promises to be one of the most significant outcomes for precision medicine.

5. Rapid advances in precision medicine technologies may outstrip societal and regulatory responses. Regulatory agencies will need to understand precision medicine technologies and practices and be agile to ensure that the field can advance rapidly, but with community engagement and support to ensure public trust and confidence.

6. Precision medicine will need to acknowledge the ethnic and cultural diversity of the Australian population. Genomic research in the context of Indigenous health is immature, and investments in precision medicine are unlikely to benefit Indigenous Australians and Australians of diverse ethnic backgrounds unless specific efforts are made to engage these communities.

7. There are opportunities for public communication and engagement initiatives relating to precision medicine that will improve collaboration and dialogue across the health ecosystem.

8. The way in which precision medicine technologies will be financed and funded will have a significant bearing on the efficiency, equity and sustainability of the health system.

9. There is a need for continuing professional development and training of the health workforce in precision medicine.

Recent technological advances allow the determination of a wide range of data about an individual’s genetic and biochemical make-up, as formed by their genes, environment and lifestyle. These advances can and do affect the clinical management of a person’s health and disease. The ability to analyse disease in terms of an individual’s make-up, when compared with and studied alongside aggregated clinical and laboratory data from healthy and diseased populations, is termed ‘precision’ or ‘personalised’ medicine. Although medicine has always had personal and predictive aspects, precision medicine allows health and disease to be viewed at an increasingly fine-grained resolution, attuned to the complexities of both the biology of each individual and variation within the population.

Precision medicine has a broad remit, encompassing genomics and other omics (metabolomics, microbiomics, proteomics and transcriptomics), epigenetics (associated with gene-environment interaction), gene editing technologies (such as CRISPR) and the development of targeted therapies specific to an individual’s disease profile. Advances in precision medicine, and the technologies that support it, are poised to reshape health care, invigorate biotechnology and ripple out to fields such as agriculture, environmental science, defence and beyond.

Three developments have catalysed advances in precision medicine:

• The first is the completion of the sequence of the human genome and accompanying developments in biotechnology that have made a whole genome sequence of a person, animal, plant or microorganism attainable at low cost in a matter of days.
• The second is the availability of new strategies and medicines that allow diseases to be treated, predicted or prevented more effectively. Treatment may in the future target specific disease-causing genetic mutations or be selected according to the patient’s genetic make-up or, for infections, the specific virus or bacterium affecting an individual. Such strategies are important not only in human medicine but also in veterinary practice and agriculture, and even trauma prevention in contexts such as defence and sport. The approaches are shared with many new initiatives in biotechnology and underpin the wealth creation of new and innovative small and medium-sized enterprises.
• The third is the increasing ability to collect and codify clinical and laboratory data in aggregate through the use of big data tools – including supercomputing capacity, cloud storage and automated biometric, diagnostic and therapeutic data collection – allowing association of genomic and related information with biomarkers, diagnosis and clinical outcome.

This report sets out the status of precision medicine, where it is likely to go over the next five to ten years, opportunities on which to capitalise, challenges for which to prepare and the considerable potential of precision medicine to enhance medical practice and transform other industries, both in Australia and internationally. It broadly discusses the potential economic implications of new precision medicine technologies for the health care system and explores potential future implications for biotechnology and agriculture. It also highlights ethical considerations relating to precision medicine, the importance of community engagement and the health economics of implementation.

Advances in genomics and related laboratory tests have already brought great opportunities for improving health for individuals. The most obvious focus has been in well-supported clinical areas, including cancer, and ‘rare’ single-gene disorders which are a significant cause of intellectual and physical disability in children. However, in the long term, the opportunities to improve health outcomes for complex disorders, such as diabetes and cardiovascular disease, are equally exciting and will optimise individual patient management through aggregation of data across populations. Precision medicine will transform health care from its focus on diagnosis and optimising treatment to optimising disease prevention and early intervention. Aspects of our health system will move from crisis management to health management.

Australia has a strong tradition of medical research in fields such as immunology, vaccine development, bionics and imaging. The country also has an excellent health system, which is regarded as one of the world’s best, and has already embraced some of the technologies that underlie precision medicine. Australia is using these technologies to inform national clinical and research programs on the implementation of genomic medicine in cancer therapy and rare genetic diseases, growing capacity in genomic sequencing and analysis, and research excellence in the study of disease mechanism (functional genomics) and therapeutic development. These attributes will allow rapid assimilation of efforts to use genomics (and other omics) to develop personalised medicine for all Australians. The implementation of a national program of precision medicine will also provide a necessary incentive to expand and improve tertiary education and training opportunities in human genomics and related fields, for which Australia could become an international education centre in our region and more widely.

Science and medicine are advancing at a rate that demands agile regulatory conditions that do not inhibit implementation, and an adaptable, widely skilled workforce capable of working across disciplines. Worldwide advances in the application of omics to health care, and more broadly to agriculture and other sectors, are occurring rapidly. It will be important to put mechanisms in place to ensure that Australia can participate in international cooperative efforts and lead in defined areas of research and clinical practice.

All parties will need to be mindful of the social and ethical nuances of research in this area. Ethical questions range from wide-ranging social justice issues regarding access and equity to specific complexities in terms of consent, safety and the support structures and clinical resources available to patients. Although discussions about ethics and genomics have a long history, focusing first on eugenics and more recently on the Human Genome Project, the issues are not easily resolved, as they involve judgements on the balance between health gains and possible loss of privacy and increase in cost, warranting sensitive, ongoing attention. It is worth noting that investment in the Human Genome Project included a commitment of the project’s annual research budget (initially three per cent, increasing to five per cent in later years) to study the ethical, legal and social implications of human genome research. It stands that any Australian precision medicine initiative should allocate specific resources to studies on ethics, law, education and community issues.

A recent survey in the United States (Scheufele et al. 2017) showed overwhelming support for clinical use of precision medicine and gene editing, but only in the context of full community consultation and involvement. It will only be possible to implement the benefits of precision medicine if the community understands and supports applications of the new genomics and has a voice in the progression of precision medicine, especially the use of DNA editing of human genes. Studies on ethics, and a commitment to social dialogue, are of the greatest importance, as is proper cost-benefit analysis in both the short and long term. All these areas represent opportunities for return on investment: the more effort and resources put into them, the more educated our society, sophisticated our research and robust our health care system.

Precision medicine research requires more diverse disciplinary approaches than traditional medical research. Clinicians will have to work with research scientists, engineers and data experts, and the ability to scale up will be crucial. Australia has historically maintained a separation between biomedical and agricultural research, medical and farming practice, ethics and education, mathematics and biology, and investment in new technology and innovation. These silos must not inhibit Australia’s ability to take full advantage of this technological shift; to build our scientific workforce; to encourage science, technology, engineering, mathematics and medicine (STEMM) education; to holistically address the ethical, regulatory and legal issues presented by new technologies; and to participate internationally in cooperative projects. There is an appetite within the research and medical community for collaboration, translation and clarity of purpose regarding precision medicine. Precision medicine will provide new opportunities for experts in traditionally non-medical fields, such as mathematics, computer science, ethics and law, to participate in determining both priorities and outcomes, and it will help to provide a holistic approach that encourages people to respond to health information, turning it into health action.

Building a broad capacity is essential: wide-scale omics information aggregated into big data can inform basic research, which, in turn, will lead to improved understanding of fundamental disease mechanisms and interventions that could lead to improvements in prevention through public health. Storage and analysis of big data raise both logistical and ethical questions. The community will only have confidence in the use of these data (which, in the end, are personal data relating to individuals) if privacy can be guaranteed. New techniques developed to handle big data show promise to achieve this outcome.

Experience internationally suggests that improved health outcomes are modest in the short term, with medical advances gradually emerging from new insights into basic biology. While there will be costs in establishing the infrastructure required for genomics and related omics, these may eventually be offset by improved health in the community, new employment opportunities and growth in the innovation sector. Discussion of precision medicine is not only for doctors and geneticists, but requires a broad approach to STEMM and Humanities, Arts and Social Sciences (HASS) education to ensure a health-literate community.

Questions about how well-equipped Australia is to implement precision medicine warrant further attention. Will Australia be able to use precision medicine to bring targeted health solutions to disadvantaged groups, such as Indigenous Australians, and those living in rural and regional locations? Do we have the infrastructure, including data capabilities? Can our existing health system use precision medicine to diagnose and treat ill people in an equitable and timely fashion? Can we foster good health and disease prevention in the areas that particularly burden the Australian population, such as type 2 diabetes and mental health? It is important that the gap between hospital medicine and primary care, which is also a gap between federal and state responsibilities, does not hinder the implementation of omic approaches to precision medicine at a community or personal level. The challenge is to ensure Australia’s health system can adapt to take advantage of the potential to apply precision medicine as a tool for prevention where it is cost-effective, and to adopt new technologies when the opportunity to benefit from them is greatest.

Appropriate policy will assist in harnessing precision medicine, gene editing and related technologies to benefit patients and the community. The significance of any national precision medicine initiative, however, goes far beyond the health system. The application of precision medicine will be transformative and will benefit many industries and offer new opportunities for skilled graduate employment. A national precision medicine initiative will enable the extension of core precision medicine technologies to areas such as agriculture, veterinary medicine, aquaculture, trauma prevention in contexts such as defence and sport, and have the potential to spawn novel biotechnology initiatives. As our health and agriculture sectors are advanced by international standards, and because we have an excellent education system, Australia is well positioned to take advantage of these opportunities. The long-term implications for us are substantial, and there are important ethical, social and economic considerations. However, with careful planning and evaluation, precision medicine technologies and application could provide exciting technological, scientific and medical opportunities over the coming decade and beyond. 

• Download full report (PDF):
  • https://acola.org/wp-content/uploads/2018/08/future-precision-medicine-australia.pdf
• Download report extract (PDF):
  • https://acola.org/wp-content/uploads/2018/08/future-precision-medicine-australia-extract.pdf
• Media release
• Input papers can be accessed at the base of this page.

Input Papers

The views and opinions expressed in these reports are those of the author and do not necessarily reflect the opinions of ACOLA.

Input papers commissioned or specially undertaken.

Input paper, chapter 1

• International actions, alliances and initiatives (PDF), Australian Academy of Technology and Engineering (ATSE)

Input paper, chapter 2

• Epigenetics (PDF), Dr Tanya Medley and Professor Richard Saffery (Murdoch Children’s Research Institute)
• Gene Editing (PDF), Dr Tanya Medley and Professor Melissa Little (Murdoch Children’s Research Institute)
• Immunotherapy (PDF), Professor Rajiv Khanna (QIMR Berghofer Medical Research Institute)
• Infectious Disease (PDF), Professor Mark Walker, Professor David Patterson, Professor Paul Young, Professor Mark Schembri, Associate Professor Scott Beatson, Professor Alexander Khromykh (The University of Queensland)
• Microbiome (PDF), Professor Mark Morrison and Professor Philip Hugenholtz (The University of Queensland)
• Omics (PDF), Professor David James and A/Professor Samantha Hocking (The University of Sydney)
• Pathology and Imaging (PDF), Professor Catriona McLean (Alfred Health), Professor Andrew Gill (The University of Sydney), Associate Professor Sarah-Jane Dawson (Peter MacCallum Cancer Centre) and Dr Tom Barber (The University of Melbourne)
• Point of Care Testing (PDF), Professor Catriona McLean (Alfred Health) and Professor Robyn Ward (The University of Queensland)
• Point of Care Testing in Australia (PDF) – Where are we up to and why do we need it? Rosy Tirimacco (iCCnet Country Health)
• Precision medicine to become standard practice, not a specialty (PDF), Professor Ingrid Winship (Melbourne Health and The University of Melbourne)
• Precision Wellness (PDF), Dr Carrie Hillyard (Fitgenes and FizzioFit)
• Sequencing (PDF), Professor Dave Burt, Dr Yuanyuan Cheng and Dr Ken McGrath

Input paper, chapter 3

• Consumer Engagement (PDF), Dr Avnesh (Avi) Ratnanesan (Energesse), with input from Daniel Damiano (Oracle Australia), Matthew Tice (Insurgence Group), Matt Riemann (ph360), Yang Jiao (Australian Patients Association), and Kiran Nair (Energesse)
• Professional Development (PDF), Professor Sylvia Metcalfe, Dr Amy Nisselle, Dr Belinda McClaren, and Associate Professor Clara Gaff (Murdoch Children’s Research Institute)
• Public Engagement (PDF), A/Professor Matthew Kearnes (University of New South Wales), Dr Declan Kuch (University of New South Wales), Dr Nicola Marks (Faculty of Law Humanities and the Arts, University of Wollongong), Georgia Miller (University of New South Wales), Dr A. Wendy Russell (Principle Consultant at Double Arrow Consulting, Visiting Fellow, Centre for Public Awareness of Science, Australian National University), A/Professor Niamh Stephenson (University of New South Wales).

Input paper, chapter 4

• Legal and Regulatory Issues of Precision Medicine (PDF), Professor Dianne Nicol and Professor Margaret Otlowski (Centre for Law and Genetics, Faculty of Law, University of Tasmania)
• Social and Ethical Implications of Precision Medicine (PDF), Dr Wendy Lipworth and Professor Ian Kerridge (Sydney Health Ethics University of Sydney), and includes material on regulation drawn from the input paper prepared by Professor Dianne Nicol and Professor Margaret Otlowski (Centre for Law and Genetics, Faculty of Law, University of Tasmania)

Input paper, chapter 5

• Indigenous Health (PDF), Professor Emma Kowal (Deakin University), Dr Elizabeth Watt (Deakin University), Dr Laura Weyrich (University of Adelaide), Professor Margaret Kelaher (The University of Melbourne) and Dr Ray Tobler (University of Adelaide)

Input paper, chapter 6

• Data (PDF), Adrian Turner with contributions from Cheryl George, Bill Simpson-Young, Dr Stephen Hardy, Dr Chelle Nic Raghnaill and Jane Polak Scowcroft (Data61)

Input paper, chapter 7

• Health Economics (PDF), Professor Rosalie Viney and Professor Jane Hall, Centre for Health Economics Research and Evaluation (CHERE), with input from Dr Stephen Duckett and Greg Moran

Input paper, chapter 8

• Agriculture (PDF), Professor Dave Edwards (The University of Western Australia)
• Environment and Gene Drives (PDF), Dr Mark Tizard (CSIRO)
• Gene Editing in the Environment – The New Zealand Experience (PDF), Dr David Penman (Co-Chair, Gene Editing Panel, Royal Society Te Apārangi, New Zealand) and Professor Peter Dearden, (Director of Genomics Aotearoa, Biochemistry Department, University of Otago)
• Malaria and Disease Vector (PDF), Dr Alyssa Barry and Professor Karen Day (The University of Melbourne)