Through her leadership at Australian Genomics, Professor Kathryn North has set the stage for the widespread application of genomics in understanding rare diseases in children.
“When I was training as a geneticist, I never dreamed that geneticists would be working side by side with intensive care doctors in the diagnosis and treatment of very sick children,” Professor Kathryn North shares.
It was while working as a paediatrician in the 1980s and 1990s that Professor North took a particular interest in children with rare diseases. She soon realised that an understanding of genetics, coupled with the emergence of new genomic technologies, had the potential to transform the way we diagnose and treat children with severe and debilitating conditions.
Since then, genomic sequencing has launched into many areas of research and clinical practice. We now talk about whole-of-life genomics from reproductive genetic carrier screening, through to newborn screening, early rapid diagnosis, risk prediction, and identification of adult-onset diseases such as cancer.
There are at least 7000 rare genetic conditions affecting 8 per cent of the population globally, or 300 million people. While the incidence varies between regions, in high-income countries,they are the leading cause of death in children. Some governments are tackling this head-on, embedding genomics in their healthcare systems, in recognition of the profound impact genomics will have on the treatment of rare diseases.
In this Q&A, Professor North looks back on her journey and life at the helm of Australian Genomics and shares her outlook on the future of genomics as an available option to every patient.
What excites you about precision medicine and its potential in clinical applications- why are you passionate about it?
During the time that I trained in paediatrics and neurology in Australia, it became obvious to me that many rare disorders we were dealing with were genetic in nature. So I decided to head to Boston where I trained in the Harvard Genetics program. On my return to Australia in 1996 I set up a neurogenetics clinical service and research team focused on kids with inherited neurological disorders.
Through our work, we were able to understand these diseases better and eventually look at targeted therapies. This cemented my view that we should be linking the research we were doing with clinical practice – not only to deliver more effective patient treatments but to provide equity of access for children and their families affected by these conditions.
In the late 1990s only about 10 per cent of children with a rare genetic condition received an accurate diagnosis. Many patients undergo what we call a “diagnostic odyssey” where over a long period of time, sometimes years, they undergo many medical tests, some of them invasive, without receiving a diagnosis. Genomic testing can often fast-track that process and provide answers that have a dramatic impact on the quality of life for those patients and families.
That was really the beginning of the idea that led to the Australian Genomics initiative, but also my work as vice-chair of the Global Alliance for Genomics and Health. Both of those initiatives have been really focused on how we can translate the advances in genomics into clinical practice to benefit the most people.
Can you tell us the story of how Australian Genomics came about, and how it disrupts the public health sector in Australia?
As we were using genomics more and more in our research, the need for a coordinated national approach became evident.
First, a successful genomics program would require large cohorts of people to be recruited for studies into rare diseases or cancers. Second, there needed to be a unified mechanism involving ethics, the governance of data, and protocols around the collection and storage of sensitive data. None of these could be done in a fragmented manner.
Australian Genomics brought together more than 100 institutions around the country, including clinical and diagnostic laboratories, hospitals, and major research institutions that were doing genomics research. Our goal was to demonstrate the clinical and cost-effectiveness of genomics and work out practical strategies for how we could integrate it into our health system.
Australian Genomics was initially a five-year program of work that started in 2016. We managed to build a national network of expertise in every state and territory for 25 different health conditions. We rolled out a series of pilot studies resulting in a prototype for both the expertise and data network of a successful genomics program.
Now, we’re in the planning stage for an overall government-led entity to guide genomics in Australia going forward. That is a great outcome for Australian Genomics.
What insights can you share in ensuring a healthy uptake of genomics research from bench to bedside?
The partnership between researchers and clinicians is very important.
Every study that we did takes into account an economic perspective of how useful the solution is, whether it changes routine clinical practice or a doctor’s clinical approach. If you’re going to take it into clinical practice, you really have to look at that cost-effectiveness angle from both sides.
The second thing is to make sure that you work with the government. In Australian Genomics, we have a national implementation committee that has representatives from both federal and state governments. This involves government early on, keeps them informed of progress and enables the development of pathways to move research evidence into clinical practice.
Can you share the secret to successfully getting clinicians on board to accommodate genomic workflows in patient management?
Our strategy was to have clinicians as part of our research teams, and to enrol patients prospectively as they presented in clinical practice. So the research engaged clinicians in real-time, and they were very motivated to find a diagnosis for their patients.
In this way, our clinicians really became the greatest advocates for driving the use of genomics testing as the standard of care.