Closing the health gap
The Garvan Institute anticipates that genomic medicine will radically impact and improve disease diagnosis, characterise risk and guide treatment. This will help to address the health disadvantages experienced by many Australians.
TRANSFORMING HEALTHCARE WITH GENOMIC INFORMATION
Future improvements in assessing an individual’s likelihood of developing a disease may change medical decision-making. This includes the potential to adopt healthier lifestyles known to minimise or prevent the risk of developing diseases much sooner than before.
Globally, the most extraordinary exploration of human genetic information is underway.
Although our understanding of the human genome is far from complete, our current knowledge is already powerful in the clinic. Timely genetic diagnoses and better characterisation of disease provide critical information to doctors and families. Similarly, information that predicts an individual’s risk of developing a disease, or their response to treatment, can optimise medical practice and reduce costs.
Globally, the most extraordinary exploration of human genetic information is underway. The cost of genome sequencing has fallen exponentially to the point where population-scale genome sequencing is accessible to a broad community of researchers and clinicians. It is rapidly becoming more cost effective to sequence a whole genome.
This remarkable technology makes it possible to pinpoint the precise molecular basis of a disorder – and therefore provide treatment with the right drug for the right patient at the right time. We are all unique and, in the future, how we are treated will be unique too.
Pioneering research studies and proof-of-concept trials have been successful at the Garvan Institute and worldwide. However, the translation of genomic technology into healthcare poses many challenges. It involves enormous volumes of data that need to be processed, interpreted and stored. Moreover, the accurate interpretation of an individual’s genome (particularly in diagnosis of rare diseases) depends on comparison with thousands or even millions of other genomes.
These highly sophisticated analyses demand an unprecedented dependency on computational expertise and high performance computing that are unfamiliar territory for the medical system.
THE FUTURE OF GENOMIC MEDICINE
Genomics is the fastest-growing area of medical research and diagnosis, and health is the largest and most important sector of the economy. The genomic revolution provides a once-in-a-generation chance for Australia to leverage its investment in this research.
A powerful combination of e-health records and genomics will create new industries in health information technologies, which can be exported to the world.
Breakthroughs in our understanding of the genome, and its interaction with the environment, will realise its value in improving our health and wellbeing.
Genomic information is already delivering health benefits. The Garvan Institute is collaborating nationally and internationally to engage and educate clinicians, the health workforce and communities. However, to successfully implement genomic medicine in routine healthcare, a well-resourced community of expert health professionals is necessary. The pathway from DNA sequencing to personalised medicine will rely on enabling this community with access to up-to-date information to make diagnoses and guide treatment.
One of the key challenges of genomic medicine lies in defining the relationship between the genome and the characteristics of the individual, collectively known as the phenome.
Connecting information from genomes and phenomes will provide a means to match individuals who have the same genetic conditions. In the future, we anticipate the integration of genomic and phenomic data will reveal an unprecedented understanding of relationships between the human genome and disease.
Until very recently, genetic testing has been restricted to very specific sites in the genome. The advent of whole genome sequencing technology is expected to completely overturn the existing paradigm for clinical genetic testing. Rather than trying to predict the correct subset of the genome to sequence, it is possible to take a snapshot of the entire genome in a single test.
With this information, we can look for mutations in any specified part of the genome or use computer algorithms and databases to identify other sites in the genome that are damaged. Once a whole genome sequence has been captured, it can be interpreted repeatedly at a fraction of the cost for the lifetime of the individual.
Not surprisingly, the application of genome sequencing in research has shown a dramatically increased diagnostic rate for common diseases. Our current clinical collaborations include investigations into neurological and movement disorders, cardiac disease, head and neck cancers, kidney disease, diabetes and intellectual disability.
Read more about genomic medicine.
HARNESSING GENOMIC INFORMATION TO PROVIDE FAMILIES WITH ANSWERS
Unravelling rare disease genes
In the Sydney Genomic Collaborative Program, about 30% of families’ disorders were diagnosed by sequencing entire exomes (the ‘coded’ portion of DNA containing instructions for your body’s proteins).
“The new technology is giving people the answers they’ve been seeking, sometimes for decades.” Dr Tony Roscioli
‘It’s been phenomenally successful’ says clinical geneticist Dr Tony Roscioli, a lead researcher for the study and the Kinghorn Cancer Centre’s Team Leader for Rare Disease Genomics. ‘The new technology is giving people the answers they’ve been seeking, sometimes for decades,’ Dr Roscioli said, pointing out that no diagnoses had been achievable in these families with previously available technologies.
Quicker answers mean patients can avoid uncomfortable diagnostic procedures and long, drawn-out testing odysseys.
In keeping with international findings, a large proportion of the disease-causing mutations diagnosed in the study were new, not inherited. Learning they did not contribute to their child’s genetic disorder can lift parents’ burden of fear and guilt. A specific genetic diagnosis can fundamentally improve family dynamics.
Reducing medical costs
Diagnostic shortcuts also avoid some of the medical costs of diagnosis — and may lead to reduced treatment costs. When the study yielded a specific diagnosis for one young girl with a rare immunological disorder, doctors were able to discontinue an extremely costly drug therapy and refocus her treatment more effectively.