Our current approach to delivering healthcare is not working. Every patient – and their disease – is unique, with many ‘one size fits all’ treatments benefiting only a minority. For example, current untargeted drugs are effective in around one-quarter of all cancer patients; three out of 10 people with Alzheimer’s disease and just over one-half of patients with diabetes. We need to radically change our approach to precision medicine.
When the Human Genome Project completed in 2003, the cost to generate one human genome sequence stood at some 54 million U.S. dollars. Twelve years later, the same procedure cost around one thousand dollars. Due to rapid advances in speed and cost of DNA sequencing and other similar technologies, there has been an explosion of data that is uncovering the exact molecular causes of disease. In 2003 only 1,474 genes were identified that had mutations that cause disease, while in 2015, 2,937 genes had been identified with mutations that cause diseases. In 2003, there were some 46 drugs labelled with biomarker information on the market. Twelve years later, the number of such drugs stood at 132.
But for the most common diseases, our genetic blueprint can only predict what might happen in the future – with the complex interactions between our genes, lifestyle and environmental factors determining our exact trajectories. So scientists are also using advanced imaging and ‘omics technologies, combined with digital biosensors and mobile fitness and wellness devices, to capture physiological and behavioural data at a large-scale. Combining and analysing these increasingly huge datasets with the help of artificial intelligence (AI) and machine learning technologies will provide incredible power to identify subtle, yet measurable, profiles associated with a disease.
Precision medicine offers unprecedented opportunities to use this ever-increasingly detailed information to prevent, diagnose and treat disease – improving health outcomes for individuals. Its successful delivery relies on several interconnected areas – the development of sophisticated tests that enable much earlier, more precise diagnosis of disease, a range of personalised interventions that can prevent or delay its onset, and a battery of new, molecularly targeted medicines that can treat an individual's condition more precisely with fewer side effects.