Meet the speaker: Professor John Mattick AO
AMSI sat down with Professor John Mattick AO from the Garvan Institute to discuss his upcoming AMSI BioInfoSummer 2017 Public Lecture and the transformation of medicine and healthcare.
How did you find your way into this field?
I loved science in school and a life of discovery seemed more exciting than medicine and law. I am not sure if that is true, but it has been exciting and fulfilling.
I was fortunate to find way into the gene cloning revolution in the 1970s, which has allowed me to be part of the molecular biology revolution. We’ve gone from being able to map one gene to mapping whole genomes. This will transform medical research and healthcare.
Can you give me a quick synopsis of what you plan to cover in your Public Lecture, how data is changing the landscape of medical research and the clinical impact this is having?
Currently healthcare is mainly focused on crisis management but we are moving into an era where medicine will be about the art of good health, that is, prevention and personalised treatment.
We have gone from a few gene sequencing tests in well understood conditions to being able to look at the whole genome, giving information about the cause of the many other so-called rare diseases that afflict almost 10% of the community at some point in their lives.
Genomes tell us everything about our biology allowing us to focus on preventative action well before the point of crisis. Future healthcare will be tailored to personal genomic information. This will allow healthcare professionals to intervene early and in most cases, implement preventative measures. I am going to give the audience a glimpse into the future of medicine, where personal genomic circumstances are able to be read and used to avoid or effectively treat disease. This exciting shift will focus on maintaining health rather than responding to the crisis of advanced illness.
Tell me about your research more broadly and how it is applied?
Precision healthcare is about empowering patients and clinicians to take control of health. We are already undertaking genome sequencing not only to diagnose genetic conditions but also to advise on health risks. Our practice is to report on what we can act on. We will provide information on other things if people would like us to do so but this is not routine.
If someone is found to be at high-risk of cancer a regime of regular checkups will greatly increase survival. Already testing of individuals that are genetically predicted to be at high risk of cancer has revealed undiagnosed pre-symptomatic cancers in some, allowing for curative surgery in the very early stage.
Similarly, 30 per cent of sudden deaths are due to cardiac arrest caused by defects in genes controlling heart function. This outcome can be avoided by such interventions as installing a pacemaker, based on genetic information that identifies the risk before the event.
One of the leading causes of hospitalisation in Australia is adverse reactions to prescription drugs. Genomic information can be used to predict whether a treatment will be effective and also risk of serious reaction. Each of us has a different repertoire of the enzymes used to clear foreign compounds, if you are a slow clearer some medicines can make you very sick, because they build up to toxic levels in the circulation. Others are useless because they are cleared so quickly. If we know this we can tailor our prescriptions accordingly.
Is our data safe? How about misuse? Are all services created equal?
We are alert to the need for patient privacy and provenance, and are working with companies to develop new applications of block chain technology to provide high security of genomic and clinical data. There will also be individual control over information. We are building a data ecology that will guarantee personal privacy and ownership.
We area also keen that this information can be used to help others, by being made available to researchers, with appropriate consent and de-identification, to further new discovery and innovation.
Many hold fears of misuse of such information such as by insurance companies who may raise premiums for those with known health risks. However, this new revolution is predicated on not just knowing but actively preventing. In this case we actually reduce risk of disease and therefore premature insurance payouts.
No, not all services are created equal when it comes to genetic sequencing. Garvan Institute is one of the biggest genomics centres globally and one of the first in the world clinically accredited to analyse genetic information and provide accurate information on what it means. Unlike pop stuff online, our service provides high quality data delivered by physicians. We also provide counselling before and after about the nature of the tests and information coming back. Genetics and clinics such as ours, which is based at St Vincent’s, are placing the individual at the centre of healthcare and research into the centre of treatment. State-of-the-art procedures and cutting-edge advice lead to better outcomes.
What are the challenges? What do you think will be the next big developments?
Dealing with an avalanche of data requires analysis and modelling – pattern work. To construct an integrated data ecology means embracing information science to make the most of this treasure trove, to match millions of genomes with records. Mathematics such as biostatistics and bioinformatics, and the emerging disciplines of machine learning and artificial intelligence will be needed to make sense of the information – to find the patterns and correlations between genetic variation and disease, that will feed back into the clinic and the development of better treatments and preventions. This allows us to explain correlations and biological discoveries.
This will lead to the complete transformation of medicine and healthcare, which will evolve from the last of the great cottage industries to the greatest of the data industries, and from the art of crisis management to the science of good health.
This means we will live healthier for longer and many of the diseases and health challenges currently burdening our health system will be prevented or caught in the early stages, reducing costs and care needed.
As this year’s BioInfoSummer School Public Lecturer, what is the most important message you want people to take away from the event?
That this next transformation in healthcare, driven by the intersection of genomics, other high-resolution technologies and data science, including personal devices, is truly a game changer. Far from being something to be afraid of, it is an exciting chapter currently being written in the history of humanity. Knowing you have genetic risks of certain diseases opens the door to prevention and early intervention. It will reduce the incidence and the burden of disability. It means longer and healthier lives and reduced economic burden of chronic disease on communities – great outcomes for all.
Access to this information is also a powerful tool for researchers, providing critical biological insights to fast-track medial discovery. It will also allow us to better understand what it is to be human.
It will change the economy of the nation, as health is our biggest and most important industry. It will also create enormous opportunities for innovation, and challenges to existing industries and structures, as rapid technological change always does.
Want to hear more? Register for the AMSI BioInfoSummer 2017 Public Lecture on Wednesday 5 December. Admission is free.
Genomes tell us everything about our biology allowing us to focus on preventative action well before the point of crisis. Future healthcare will be tailored to personal genomic information.
Professor John Mattick AO