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The impact of genomics on the future of medicine and health

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Precision genomic medicine will have a transformative impact on personal health and wellbeing, health economics and national productivity

In recent years, there has been an extraordinary leap in knowledge of the human genome and its role in health and disease. A decade ago, researchers were tentatively exploring the first reference human genome sequences, which cost over $1 billion to produce.1,2 Now, thousands of genomes from a cross-section of ethnic backgrounds have been sequenced. This explosion of activity has been enabled by unprecedented advances in sequencing technologies that can now sequence a person’s entire genome — more than 6000 million bases — in days, at a cost of US$1000,3 with costs expected to fall further in coming years.

Making sense of genomic data requires computational technologies and databases to evolve in parallel with sequencing technologies. Advances in both technologies enable an ever-increasing capacity for accurate diagnosis of existing disease, and development of effective and targeted treatment strategies. They also offer opportunities to assess predisposition to disease, potentially prompting more focused clinical monitoring and lifestyle changes.

Although our knowledge of the human genome is currently far from complete, accumulating examples…