Precision Medicine: Better health outcomes for Australia

31 January 2018
Professor Robert Williamson AO FRS FAA FAHMS
Professor Robert Williamson, Chair, ACOLA Precision Medicine Project, wrote a piece for the Precision Medicine Project launch on 31 January 2018. Here is an excerpt: 

It is now possible to read the human genome in a matter of days, at low cost, and obtain information on any person's disease-associated gene variants. Precision medicine will apply these new technologies in a person-specific way, identifying health risks and suggesting early interventions to prevent disease. The crucial importance of precision medicine is its potential to offer better health by preventing common diseases such as coronary heart disease, cancer, diabetes and mental illness, based on precise person-specific knowledge. 

For many clinical situations, precision medicine will improve treatment for an individual (for instance, identifying the mutations that cause a cancer to guide which possible therapies is most likely to succeed) but will not change a patient's experience dramatically, as the patient will still be seen in a clinical environment where existing resources will be combined with precision medicine. The obvious places to start to use precision medicine are for rare diseases and cancer. 

However, the long-term use of genomic and related data will transition much of medicine from treatment to prevention. The general practitioner will assume a new and crucial role. Those in primary health care must be ready to understand, interpret and implement these findings in the community. Patients must be willing to accept this knowledge as part of health care. There will be particular challenges in offering precision medicine to those who have most to gain, such as Indigenous Australians and those living in rural settings, and to children with cancer and other serious illnesses that are presently hard to diagnose. 

Precision medicine raises ethical issues. While a strong case can be made for the introduction of genomics and precision medicine into health care, this must be done with full community discussion and support. Many of the benefits of precision medicine will involve the aggregation of personal information into big data, and the community will expect guarantees that data on individuals, such as their genome and its implications for health, are secure and will not be accessed other than in a prescribed way by health professionals. Genomic data have implications for families as well as individuals, meaning that in some cases counselling and consent will be needed before testing commences. 

The applications of precision medicine are transformative; they will lead to new opportunities, end old practices and change the landscape of health care. In a rapidly moving environment, we must remain flexible and not become committed to one technology, but be ready to compare many. The rate of progress in designing effective and inexpensive instrumentation is remarkable; the cost of a human whole genome sequence is now less than US$1,000 and will soon be much less again… Australia is well positioned to take advantage of these opportunities. With careful planning and approaches, precision medicine technologies and applications can provide exciting technological, scientific and medical opportunities far beyond the immediate health benefits, over the coming decade and beyond. 

The ultimate justification for precision medicine, as for any new health care initiative, will be the extent to which it delivers better health for our community. There is an obligation on Australia to ensure that precision medicine introduces new and measurable improvements to what the world already regards as an excellent, world-leading health care system. I am convinced that precision medicine will be able to provide precisely such outcomes across the system.