Magic medicine? The gene and us

Imagine a future where your doctor can tailor your treatment based on your genetic makeup and prevent diseases long before any symptoms appear

Professor Kathryn North, Director of the Murdoch Children’s Research Institute Picture: Eugene Hyland

Imagine a future where your doctor can tailor your treatment based on your unique genetic make-up and predict and prevent diseases long before any symptoms appear; where you carry your genomic sequence on your smartphone, and where its analysis is as common as taking a pathology test.

This isn’t science fiction. It’s the promise of genomics, a rapidly evolving field that is transforming medicine at an unprecedented pace. Since the human genome was mapped in 2003, genomics has opened doors to medical breakthroughs once thought impossible. It’s now reshaping how we diagnose, treat and even prevent illnesses, from cancer to rare genetic disorders. Yet we are only scratching the surface of what genomics can offer.

Last year marked the 20th anniversary of the completion of the Human Genome Project, an incredible international effort to sequence an individual’s genetic “recipe book” of more than 20,000 genes. This took almost 13 years and cost more than $US3bn ($4.5bn).

Fast-forward 20 years and an entire human genome can be sequenced in days, even hours, at a cost of less than $1000. Next-generation sequencing technologies are now being used in clinical settings to diagnose disease and manage patient care. The breadth of applications for human genomic data is immense; it can be used across the entire life cycle, from family planning through to end-of-life care.

For example, a couple planning a family can undergo reproductive genetic carrier screening to see if they have an increased chance of having a baby with a seriously debilitating or life-limiting condition, offering a choice to proactively access assisted reproductive technologies.

More than 300 million people worldwide are affected by a group of more than 7000 designated “rare” diseases. Collectively, however, these affect one in 12 people and include conditions such as cystic fibrosis, spinal muscular atrophy and fragile X, an inherited genetic condition that causes intellectual disability and behavioural and learning challenges.

Genomic sequencing is a powerful diagnostic tool for this group of diseases, about 80 per cent of which have a genetic basis and are challenging to diagnose.

Genomic newborn screening, still in the research phase, has the potential to fast-track diagnosis of serious conditions in newborns. For babies and children in intensive care with a likely genetic disorder, rapid genomic sequencing can return results and a diagnosis in a matter of hours, changing clinical management and enabling fast and targeted treatment options.

Among its many applications, genomics is being used to inform public health strategies. It played a crucial role during the Covid-19 pandemic by enabling rapid viral sequencing, helping scientists track mutations in real time. This sped up vaccine development, informed public health decisions, and helped track the spread of the virus globally.

Genomic testing is increasingly used for the early identification of adult-onset diseases, such as cancer, and to target therapies based on an individual’s specific genetic code (genotype). Individual genotypes, such as mutations in BRCA (breast cancer) genes, are being used as a predictor of disease risk. In this new age of precision medicine, it’s conceivable we will soon see widespread use of accurate individualised predictors for many common diseases.

Beyond the bold predictions, all these advances – rapidly advancing technology, the falling cost of sequencing that makes it more accessible, the looming influence of artificial intelligence – flag new challenges. Among them is building representative datasets, which currently skew towards populations of European ancestry, to reflect the world’s diversity. Accurate interpretation of an individual’s genome needs to consider the normal variation in genetic background, which varies between ethnic groups and geographies. We must ensure

equitable access to life-changing discoveries for all communities.

By next year, it’s estimated 25 million of us will have had our genomes sequenced, and more than 100 million by 2030. How is that data being managed, transferred and stored? Who can access and analyse it? How is it used and for what purpose? The big challenge is to securely integrate genomics into mainstream health, making its benefits available to everyone.

These are among the major issues being tackled on multiple fronts by groups such as the Global Alliance for Genomics and Health, bringing together more than 600 organisations from more than a hundred countries to build global standards and policies that expand the responsible and secure use of, and access to, genomic data for the benefit of human health.

In Australia over the past decade, and as part of this global effort, we have established a collaborative national network of research institutions, clinical and laboratory genetics services, peak professional bodies and patient organisations that is bridging the gap between genomic research and clinical practice to integrate genomics into mainstream healthcare.

In 2025, Genomics Australia will be established as a government agency with a charter “to drive excellence and innovation in genomics research and translation, and enable clinical implementation, access and adoption of genomics, to deliver better health outcomes for all Australians”. We still have a long way to go in genomic medicine, but the potential long-term impact on the way we diagnose, prevent, predict and manage disease will surely be profound.

Professor Kathryn North AC is vice chair of the Global Alliance of Genomics and Health, and

director of the Murdoch Children’s Research Institute.

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