Imagine you suddenly start to notice heart palpitations. In addition to the anxiety that comes with feeling unwell, you’d also have the stress of organising diagnosis and treatment. Booking a medical appointment is, after all, hardly the most straightforward of tasks, even in some developed countries. And on top of that there’d be the excruciating wait to find out what’s wrong. All in all, an ordeal that could be expected to last several days, if not weeks.
Yet imagine an alternative scenario, one in which your medical journey is a far less traumatic experience. In this cheerier place, it might turn out that your health history, general fitness and genome come in the form of data that is made instantly available to your physician. Your doctor would then be able to perform an instant diagnosis and duly prescribe a drug specifically tailored to your unique genetic makeup. And all that could happen within a couple of hours.
This medical utopia is not the distant prospect you might think. Personalised medicine is fast-becoming a reality. In essence, it is a technologically-advanced, more efficient and cheaper way of enhancing what doctors have been doing for millennia – making the right decisions about the prevention, diagnosis, and treatment of disease – but with the crucial information that comes from an individual’s genetic profile.
Strike while the iron’s hot
Already, major pharmaceutical companies like GSK and GE Healthcare are pooling resources to develop personalised therapies for some of the most insidious diseases, like skin cancer. Although half of late-stage skin cancers stem from a defective set of genes, the other half are caused by gene mutations, which can be treated.
GSK and GE aim to gather vast amounts of data that will lay bare those various mutations in greater detail. They then hope to be able to match the available medicines to the various different defective genes so that drugs can be prescribed according to an individual’s genetic make-up.
Other pharmaceutical companies are taking a different route to personalised medicine by partnering with technology giants. In drug discovery, for instance, many large drugs firms are using big data analytics to combine scientific information about a treatment with clinical trial data, individual patient details and even discussions about side-effects in social media to build a picture of a treatment’s effectiveness.
One example is Israeli pharmaceutical giant Teva, which is working with IBM Watson – a cognitive computing platform that processes vast amounts of big data – to create individualised treatment options for complex conditions such as asthma, migraines and disorders that affect the nervous system.
That’s the promise of precision medicine: delivering the right treatments, at the right time, every time to the right person.
Political support
It’s not just the pharmaceutical industry that sees the potential of personalised medicine. Central government does too. In the US, President Obama’s USD215 million Precision Medicine Initiative aims to create an enormous health data pool from more than one million American volunteers who will share genetic data, biological samples, and diet and lifestyle information. Laying the scientific foundations for personalised medicine in many diseases, the programme will identify new targets for treatment and prevention, and determine an individual’s likely response to different drugs.
“You can match a blood transfusion to a blood type.What if matching a cancer cure to our genetic code was just as easy, just as standard?” Obama explained. “That’s the promise of precision medicine: delivering the right treatments, at the right time, every time to the right person”.
Matching drugs to patients
Many personalised medicine efforts focus on pharmacogenomics, a field concerned with analysing how variations in the human genome affect the response to different drugs.
“Using genomewide association studies, we can check very quickly whether a drug is actually hitting any disease across the entire spectrum, giving us an idea of its potential positive impact and also its side effects,” says Professor Colin Palmer, a specialist in pharmacogenomics at the University of Dundee.
One condition whose treatment would benefit enormously from pharmacogenomics is heart disease. For a large swathe of the population, statins – the current gold standard of care – are hugely successful, “but we know that there are some people resistant or intolerant to statins,” Prof. Palmer says.
By analysing the genomes of these individuals, other previously discarded drugs might be revealed to be highly effective, and can thus be resurrected for use in these patients.
Gene editors
Another aspect to personalised medicine is gene editing through the ground-breaking CRISPR technology, which can influence the health of any organism (from bacteria to humans) by changing its DNA. “CRISPR is fantastic,” Prof. Palmer says. “It’s revolutionising the extension of knowledge of health and disease by allowing us to study molecular mechanisms and gene mutations.”
Although still in its infancy, CRISPR has already been used by scientists in the laboratory to gain new insights into cancer, AIDS and a host of genetic diseases. With potential to prevent birth defects and ‘fix’ disease mutations such as haemophilia and muscular dystrophy, the medical applications could be revolutionary. Still, the technique is controversial. Editing the human genome raises serious moral questions so its expansion is sure to meet significant resistance.
A growing market
Although many practical, financial and ethical hurdles remain before a new era of personalised medicine can be fully realised, there are many encouraging signs. Almost one in three of the novel new drugs approved by the US Food and Drug Administration in 2015 were classed as personalised medicines, while the size of the market has ballooned to USD42 billion. The advantages both to patients and the buckling healthcare systems will start to be felt soon.
