Big ideas of 2014: Personalised medicine

Genetic testing will make treating illnesses cheaper and more efficient
December 12, 2013
"Personalised healthcare... has got to become a reality to help the NHS survive": Genetic testing




Medicine is going through a revolution. Genetic testing is starting to offer the chance of far more precisely targeted treatment, based on new knowledge about who is most likely to benefit.

The usual way of testing new medicines has been through large randomised control trials that determine what the average patient’s response is, sometimes with wide variations. But analysing the genetic and environmental information of a patient can tell us the risk of certain diseases, how those could progress, or how the person might respond to different treatments.

Tests are well-established for determining if someone carries the BRCA1 or BRCA2 gene mutations, for example, which put them at high risk of developing breast cancer. It is now becoming possible to discern previously unknown genetic differences between groups of patients, shedding light on why some respond well to a particular treatment and others not at all. That could mean that debilitating and expensive treatment was directed only at those likely to benefit. Overall success rates would be expected to rise—for those deemed appropriate recipients.

“No two cancers are the same, so even patients with tumours in the same part of the body may respond differently to treatment,” says Ian Walker, Director of Stratified Medicine at Cancer Research UK. “Personalising cancer treatments… could transform the lives of people with the disease.” Advances are being made in other areas, too—in the US, for example, the FDA approved, in January 2012, a drug that can treat a rare form of cystic fibrosis caused by the G551D mutation.

We are learning that most diseases are caused by a complex interplay of genetic and other factors (age, lifestyle, hormones, medications, environment and so on). Continuing the personalised medicine revolution means taking it into the era of big data. Massive DNA sequencing projects—such as the UK Personal Genome Project, launched in November, which hopes to analyse the genetic code of 100,000 volunteers—could make further discoveries. UK Biobank has gathered vast quantities of data from half a million volunteers as part of a study into how far genetic predisposition and other factors contribute to disease. Starting in 2014, NHS England will launch care.data, which ties together patient data from GPs and hospitals.

Personalised medicine is in the early stages. At the moment we are mostly dealing with “stratified medicine,” where subsets of patients are identified, making medicine less generalised but still not truly personal. But, says Jeremy Nicholson, Director of Stratified Medicine at Imperial’s Biomedical Research Centre, healthcare will continue to move in this direction: not only will it improve our ability to prevent and treat disease, but is also “hugely important for simple reasons of economy. People think personalised healthcare is expensive. In fact, it’s impersonalised healthcare that’s expensive; getting the wrong treatment for the patient is expensive… This has got to become a reality to help the NHS survive.”




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