“The great promise of the twenty-first century is the transition from universal standard care to universal precision care”, according to the Office of Australia’s Chief Scientist, but adequate industry incentives and legislative and data privacy protections are required.
Preparing for what will be one of the great revolutions of humankind requires action by policy makers, the new Occasional Paper from the Office of Australia’s Chief Scientist says.
“We know that every human is a one-off result of their genes and their life experiences,” Chief Scientist Dr Alan Finkel said.
“Advances in science and technology are clearing the way to what medicine has always aspired to provide: person-specific, custom-fit care.”
According to the paper released today, rapid developments in the technologies powering the pioneers will soon move genomics out of the rarefied environment of research institutes and increasingly into medical care.
“The concept of precision (or personalised) medicine isn’t new. What is new is the array of technologies emerging to enable it, and the scale at which these technologies can be provided,” the paper says.
The technologies are allowing massive datasets to be mined for insights into the relationships between genes, environmental factors and health. Increased connectivity is allowing electronic medical records to provide doctors with comprehensive individual health profiles. And artificial intelligence is overcoming the cost and human capacity barriers to delivering precision medicine population-wide.
But despite the giant leaps forward, there are challenges that need to be overcome as healthcare and its recipients adjust to the new order, the paper says.
“The emergence of precision medicine is transforming relationships between patients, clinicians, and industry. Its impact will rest upon its reception in the community.”
Placing the control of data into individuals’ hands and informing them of protections will be essential to gaining trust.
“Public awareness of data and privacy issues is growing and is particularly sensitive in the health sector. There are many benefits that flow to patients individually from consolidating their medical data, including improved coordination of their medical care. Analysis of large-scale, de-identified data will also benefit the community by enabling research that was hitherto impossible or prohibitively labour-intensive.
“The community will only have confidence in the use of their data if privacy is guaranteed. Every Australian should have ultimate control over the purposes to which their health data is put. Maximising the pool of willing and informed participants contributing their data for research relies on responsible data custodianship, in line with community expectations.”
The paper recommends governments and the medical community continue to lead the public conversation explaining the benefits to patients, and inform consumers about their rights and data privacy protections.
To protect Australians from disadvantage, it claims decades-old legislation needs to be changed to restrict access to genetic information by insurers.
“It is also conceivable that genomics, lifestyle and other data collected for healthcare could be used in unexpected ways to disadvantage an individual,” the paper says.
“For example, under decades-old Australian legislation, life insurance applicants are required to disclose all relevant health information, including genetic test results done for reasons other than clinical purposes, such as for research or genealogy. Other countries have introduced laws to ensure that employment and life insurance are not unfairly denied to anyone due to such data profiles. Australia can learn from the experience of these jurisdictions in seeking to ensure that precision medicine does not come at unfair personal cost.”
Precision medicine, which comprises genomics, data science and computing, is predicted to revolutionise Australian healthcare by 2030, with the system expected to switch focus from treatment to prevention.
Researchers have already discovered genes for killer conditions including some cancers, and rare diseases such as Leigh Syndrome, providing new treatment options and in some cases curing the previously incurable.
Dramatic advances in technology have seen the cost of a human genome sequence fall from over $100 million at the turn of the millennium to $1000 today, the paper says, making the technology far more accessible to laboratories and clinics.
The drop has contributed to the increasing use of precision medicine in bedside care, with supercharged diagnostic tests and customised treatments. Already hundreds of cancer patients in Australia receive personalised therapy based on genome analysis.
In time, precision medicine will become more cost-effective than the management of chronic conditions but the paper questions if there are adequate incentives to fuel industry investment.
“By pinpointing the treatment most likely to succeed, [precision medicine] can cut expenditure on unnecessary tests and procedures. This transition will challenge traditional models for both allocating resources in the healthcare sector and incentivising investment in medical research.
“Is there, for example, enough incentive for industry to develop expensive treatments that effectively and precisely cure a small number of patients? Governments and industry need to consider how to share risks for drug development, maximise patient access, involve those affected and their families, and ensure value for money across the healthcare sector.”
Lead author of the report Professor Robert Williamson called on policy makers to ensure access to precision medicine is fair and equitable.
“Australia has and will continue to make a strong contribution through our research,” Williamson said.
“The challenge for policymakers is to ensure the benefits are widely shared.”
Finkel said public policy was crucial in guiding the healthcare transition ahead.
“Precision medicine can ensure that Australian life expectancies remain amongst the highest in the world, but patients must have confidence that their personal data will be protected.”
The Occasional Paper, which draws on a report produced by Australia’s Learned Academies, working collaboratively as ACOLA, says some of the building blocks are already in place, including the National Health Genomics Policy Framework, the Australian Genomics Health Alliance, and the Commonwealth Government’s 2018 Budget commitment to a 10-year $500 million Genomics Health Futures Mission.
However, it says more needs to be done to position the nation to play “a leading role in finding solutions that work at home and abroad”.
“Precision medicine has the potential to boost the years of active, healthy living that Australians enjoy, whilst opening new opportunities for Australian research to benefit the world. Its promise rests on our communitywide commitment to access, equity and innovation.”