WE measure the pace of change by comparing what our children do (Facebook, FitBit, Facetime and Netflix) with our pastimes when we were young (charades and Scrabble, and maybe a black and white TV).

That pace is beginning to change our professional lives as well. Many disruptive technologies, ones that change our patterns of work and play, are entering into health practice. The world of 2030 will be very different!

Two reports have recently been released that speculate on the nature of those changes. Australia 2030: prosperity through innovation, produced by Innovation and Science Australia, is a whole-of-government vision with a focus on innovation, industry and education, and an assumption that it will be possible to achieve a high level of cooperation between government agencies, states and the Commonwealth, and public and private enterprise.

The Australia 2030 plan projects a vision that is aspirational, with health care as one of its three national missions, which notes that health care is being reinvented. Its vision is that Australia can “integrate genomics and precision medicine into our healthcare system to ensure that Australia continues to be one of the healthiest countries on Earth”.

And that’s where the other report, The future of precision medicine in Australia, comes in. This horizon-scanning report produced by the Australian Council of Learned Academies, gives context and content to the changes that are predicted for the health system over the coming 15 years. “Precision medicine” is a somewhat clumsy term for the new technologies –the “-omics” – which will provide patient-specific data that will be both far more predictive, and more accurate for diagnosis and treatment, than current methods. While the most powerful -omic is genomics (the DNA sequence unique to every individual), studies of metabolomics, proteomics, epigenomics and transcriptomics also bring priceless data to the clinical table, often providing the key link between genetics and environment.

Ten years ago, it cost millions of dollars to sequence the genome of an individual. Now, it costs about $1000, and can be done in a week or less. In another 5 years, it will probably cost $100 and be available on-site, in real time, in most GP practices (a prediction of mine – not everyone agrees). And some biotech companies claim they can carry out a DNA genome sequence using a hand-held device like a smartphone.

Each person’s genetic makeup provides the background information (when it interacts with a person-specific environment) that provides a framework of individual health and disease. In some cases, this information is complete in and of itself – for example, if you have one copy of the gene that is mutated to cause Huntington disease, you are almost 100% sure to get the disease. In other cases, such as having the ApoE4 allele, it can guide risk assessment, but many people with ApoE4 do not develop dementia, even though it is a major risk factor.

In the here and now, precision medicine is guiding cancer treatment. The DNA sequence of a tumour is compared to that of the patient, and the specific mutation causing cell proliferation is often identified. Then one of the new targeted drugs (very expensive but often very effective) is deployed. How much better (and also more cost-effective) is that than trying several drugs, one after the other, operating on percentages rather than knowledge specific to the patient?

The other here-and-now use of precision medicine is in the neonatal ward. If an infant is ill and fails to thrive, the cause is often metabolic. Some of the mutations causing severe disease can be picked up using DNA sequencing, and in these cases the parents are grateful that the cause has been determined. Should they wish they can have unaffected future children, and in a few cases treatment is improved beyond recognition.

However, looking ahead 5 or 10 years, precision medicine (or personalised medicine, if you prefer) will also belong firmly in general practice and community health. The real value will be seen when it is possible to predict risk and offer health solutions for the common diseases of middle and late years, such as cancer, heart disease, mental illness and dementia. These, like most things, combine genes and environment. The true use of genetic prediction will be to provide strong data on how to intervene, whether by offering drugs or changing the environment, so medicine can preserve health based on clear and accurate risk data, rather than treat people once they become sick. And all advice, whether based on DNA sequence, or the gut flora, or how much exercise Fitbit reports to the data cloud, will be person-specific rather than average.

Precision medicine requires more diverse disciplinary approaches than traditional medicine. Clinicians will have to work with research scientists, engineers, environmentalists and IT experts, and the ability to scale up will be critical. Australia has historically maintained a separation between biomedical and agricultural research, medical and veterinary practice, ethics and education, mathematics and biology. These silos must not inhibit Australia’s ability to take full advantage of this technological shift, to build our scientific workforce and encourage science, technology, engineering and mathematics education in schools. And proper, whole-of-government, whole-of-community approaches will also lead to adoption of these technologies and principles in fields as remote from medicine as sport, agriculture and defence.

If we ignore the ethical, regulatory and legal issues presented by new technologies, and fail to participate internationally in cooperative projects, we will miss great opportunities. Precision medicine will offer a signal role to experts in fields new to health care, from mathematicians and computer scientists working on big data to experts in social science who are experienced at knowing how to encourage people to respond to health information, turning it into health action. The potential rewards for public health could be stunning, at a time when ensuring healthy ageing is critical to our economic and social wellbeing.

Professor Bob Williamson headed the St Mary’s Hospital London genomics unit from 1976 until 1995, when he moved to Melbourne. He was Director of the Murdoch Institute, Royal Children’s Hospital, and Professor of Medical Genetics at Melbourne University until 2005. He chaired the ACOLA panel that prepared its report on precision medicine.


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