John Mattick: Whole genome sequencing is medicine’s Snowy Scheme
Professor John Mattick AO FAA
13 April 2017
We are on the brink of a revolution in healthcare. Genomics soon will help us not just cure but also predict and even prevent diseases such as diabetes, dementia, cancer and heart disease.
And it’s just the start. With enough data on the population’s genetic make-up, breakthroughs in other diseases and mental illness will be almost unlimited.
The technology to gather this data is, for the first time, accessible and relatively cheap. A person’s entire DNA sequence — three billion letters of genetic code — now can be read in Australia in just a few days for about $1500.
The benefits of whole genome sequencing to patients are extraordinary. One recent example, testament to the power of precision medicine, is that of seven-year-old Sydney boy, Alan, whose rare auto-immune disease was found to be due to the combination of two mutations in a single gene. In 2015, just three months before Alan’s diagnosis, US medical researchers had shown that the drug abatacept, originally developed for organ transplant patients, compensates for deficits in this same gene. Without a doubt, abatacept has saved Alan’s life. This is a case where WGS led to an unexpected repurposing of a drug for a previously undiagnosed disease.
The benefits to the community of WGS are impossible to overstate. When genetic information is combined with clinical patient records it can create a multidimensional database that can be mined by researchers.
Disorders that result from a varied contribution of many genes — potentially more than 100 for a particular trait or disorder in each individual — can be teased out and assessed alongside lifestyle, demographic and environmental information.
It will help researchers find groups of individuals who respond to particular therapies or are more, or less, susceptible to disease and, in doing so, aid the development of new treatments or interventions to delay the onset of disease.
We know and appreciate that big data will underlie much of our future decision-making processes in banking and finance, agriculture, and the construction industry. The same is true of the data from genomics.
However, for the nation to enjoy the full benefits of this revolution, this data must be properly managed from the start. The American, British, French and Chinese governments have already backed long-term population-wide sequencing projects. These countries are leading the charge away from the old model of medicine, in which the medical industry responds to diseases with expensive, inefficient and often unnecessary remedies, into the new model in which diseases are increasingly personal, predictable and preventable.
Despite not being in the starting line-up, Australia is well-placed to be a frontrunner in precision medicine — but we need to make clear policy decisions now.
Our researchers are leaders in biomedical and clinical sciences. We have one of the first clinical genomics enterprises in the world and strengths in key enabling technologies such as data mining and software engineering. There’s an opportunity to integrate genomic data with the MyHealth records system that is overseen by the Australian Digital Health Agency and to implement novel technical solutions for interrogating data while maintaining privacy.
Notably, we have the capacity to look outside the research environment and geopolitics to assess how best to deliver a healthier future for all of us.
That journey must begin with a clear strategic intent and defined milestones: the first, to sequence 1 per cent of the population who are ideally placed to provide early insight into new therapies and have high unmet needs. This should include those who have undiagnosed genetic disabilities, high risk of cancer, “exceptional” treatment responders and individuals from well-characterised clinical cohorts in which the federal government and research funders have already invested millions.
We also suggest — indeed believe it will be essential to public confidence and success — that Australia establish a national body, Precision Medicine Australia, to lead and execute this health and wellbeing infrastructure project.
PMA’s board should consist of leading experts in law, health, data and business. Its objective will be key to delivering a project that will easily exceed the impact on Australia of the Snowy Mountains scheme by transforming personal health management, the entire health system and the national economy. Strategic investment in genomic infrastructure would place Australia among the leaders of this new industry.
More clinical trials would be held here, which would benefit patients and the local industry. It also would position us on a level playing field for collaboration with other genome-savvy nations.
But without immediate action, Australian citizens will once again be faced with a future that is reliant on importation of technology central to its economy, and a lost opportunity for job creation in a time of transformational change in the biggest and most important industry in the world.
John Mattick is executive director of the Garvan Institute of Medical Research in Sydney. Branwen Morgan is a Garvan Institute visiting fellow.
This article originally appeared on 13th April, 2017 in The Australian. It has been republished here with permission.