In Conversation provides a glimpse into the life of an outlier an exceptional person going above and beyond to improve outcomes in their field. In 2019, Professor Kathryn North AC won the prestigious Peter Wills Medal Research Australias flagship award in recognition of her outstanding leadership in genomic medicine, which has helped drive Australias international reputation in this field.

As Director of the Murdoch Childrens Research Institute, Professor North plays a key role in integrating genomic testing and diagnosis into standard health care, with the aim to shorten diagnosis times and increase diagnostic rates to enable early intervention as well as provide access to treatment for people with genetic disorders and cancer. Through her own research, she has worked to identify new disease genes and improve diagnosis, setting the benchmark for ongoing research efforts.

This award, which Im incredibly thrilled to receive, really recognises a range of roles Ive played not just as an individual researcher but as part of the efforts of hundreds of researchers in Australia and around the world working together to bring advanced genomics into standard health care.

After training as a child neurologist, I became increasingly fascinated by genetics and its potential to predict, diagnose and help treat disease. The lure of research drew me back to the lab, with a major focus on inherited muscle diseases like muscular dystrophy, which can lead to lifelong disability in affected children and adults. My work in this area led me to discover the effects of the gene ACTN3, which influences muscle power and recovery from damage and was subsequently dubbed the gene for speed.

We studied elite athletes and demonstrated that ACTN3 is a major determinant of skeletal muscle performance, but my team has also recently shown that variations in ACTN3 influence disease severity and progression in Duchenne muscular dystrophy. We are now studying how it influences muscle-wasting associated with ageing, steroid use and cancer.

My research is just one example of how genomic medicine can make a tremendous difference. This led me to help establish Australian Genomics, a national network of clinical and laboratory genetics services, hospitals, universities, research institutions and patient advocacy groups working together to establish procedures to enable all Australians access to genomic health care. The Murdoch Childrens Research Institute is now at the forefront of the genomics revolution, translating the latest discoveries into clinical practice.

An accurate diagnosis is hugely important because it gives answers to both the patient and the clinician. In my work as a paediatrician, Ive seen parents desperately seeking an answer to the cause of their kids intellectual or physical disability, wanting to know about their childs future and whether they would have other affected children.

Previously, we just couldnt answer these questions. Advances in genetic technology mean all genes can now be sequenced quickly and cheaply, and the information used to predict, diagnose and treat rare diseases as well as many forms of cancer.

Medical genetics and genomics has changed dramatically since the mid 90s. In the past we were able to give families with affected children a clinical description, but couldnt accurately put a label on what exactly was wrong.

The Human Genome Project and the development and rollout of advanced next-generation, ultrarapid gene sequencing have been an absolute game changer. I couldnt have imagined that wed be using genome technologies in the clinic within two years of using it in a research setting, increasing the diagnostic rate fivefold, and having geneticists working side by side with intensive care physicians to provide that diagnosis within three days.

We can now provide a genetic diagnosis for 50 to 90% of our families and answer these difficult questions.

Genomics is absolutely going to transform healthcare delivery. Using global data gathered and shared responsibly from millions of people, we can be much more accurate in making a prediction about the individual. We will be able to move to a healthcare model of prediction, prevention, early intervention and targeted treatment, and eventually improve and maintain the wellness of the population rather than focusing solely on illness.

This will no doubt come with significant challenges. To overcome these we need to approach genomics at the local and national level, and partner globally to be able to apply our insights to individuals accurately and with meaning.

Its incredibly important we engage at a public level so the community can understand our work. We need to bring the public along on this journey and explain the applications and great benefits of applying big data and genomic technologies to benefit individual patients. Its up to us as doctors and researchers to convey those messages accurately, strongly and with a united voice.

Research Australias Health and Medical Research Awards are important because they increase the visibility of science in general and medical research in particular within the community. They bring recognition to the researchers behind some of Australias most exciting medical and health discoveries, and kickstart conversations we need to be having to harness the possibilities of science for community benefit.

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In Conversation with Professor Kathryn North - Australian Hospital + Healthcare Bulletin