The power of the phenome
by Guest Author on 1 Aug 2012
Today Prime Minister David Cameron announces that the London 2012 Anti-Doping Science Centre in Harlow will live on after the Olympic Games as the MRC-NIHR Phenome Centre. Katherine Nightingale spoke to Frank Kelly, one of the principal investigators at the new centre and Director of the Analytical & Environmental Sciences Division at King’s College London, to find out what phenomes can teach us about disease.
Let’s start with the basics, what exactly is a phenome?
Well, lots of people have heard of the genome — it collectively describes an individual’s genetic material. The phenome describes all the other chemistry of our body; all the molecules in our body. This mixture of molecules changes every minute of every day and depends on the way we lead our lives, the environment in which we live and how our bodies respond.
How does studying phenomes help researchers understand disease?
When genomic science began we all thought that once we’d figured out human genomes we’d understand why some people get disease and some people don’t. But it turns out that our genomes only explain the causes of a fifth of chronic diseases like heart disease — in fact, environmental factors are behind the vast majority of chronic diseases.
By environment I mean the totality of environmental exposure, from the type of food we eat to where we live, the type of job we have, the level of stress we experience, the air we breathe, the water we drink, the chemicals we use to clean our homes. All of these in combination will lead to some people developing chronic disease at some point in their lives.
All these different factors affect the chemistry of our bodies to give a unique phenome pattern. By measuring phenome patterns throughout life we hope to be able to identify the patterns which differentiate people who develop a particular disease from those who don’t. That’s the power of the phenome.
So, where does the Olympic anti-doping centre come in?
To analyse an individual’s phenome, we need a biological sample from them — usually blood or urine and sometimes hair or nails. We then use techniques called Nuclear Magnetic Resonance spectroscopy and mass spectrometry to accurately detect and measure the molecules present in the samples.
The Olympic Anti-Doping Science Centre has robotic analytical facilities, hosted by GlaxoSmithKline, that can run almost unaided, 24 hours a day, and process the huge number of samples that we need. We all thought the genome project was an enormous enterprise but the phenome project — a new approach to understanding the basis of chronic disease — will be a huge undertaking.
How do you turn a drug testing facility into a phenome centre?
We’ll need to do some work. The facility is very good at testing lots of samples but it tests them for specific substances. For phenome analysis we need to capture every molecule present in a sample to produce a pattern, so we’ll need a slightly difference mix of equipment. One of the main challenges is setting up ways to deal with the vast amount of data that will be produced and establishing systems to analyse the phenome patterns. We’ll start reformatting the centre from 1 October and hope to open for business in January 2013.
Where will the samples come from?
In the first instance we’ll use samples from some of the UK’s long-running cohort studies. These have gathered information, including biological samples, on groups of people for years. The key is that this phenome data can then be linked to the databases of their genomes and also to their health records.
We’re aiming to offer a service to theUKmedical and scientific community, as well as ensuring that the UK is at the forefront of this field and has the expertise to develop an industry around phenome science.
What’s it like to be part of the Olympic legacy?
To have established the London 2012 Anti-Doping Science Centre on the site of the usual drug-testing centre at King’s we would have had to empty the building — that’s why we ended up with the facility atHarlow. An enormous amount of time and effort went into establishing the facility, and it seemed to me that it would have been an incredible waste of time, talent and machinery to have simply walked away from it when the Olympics was over.
It’s great that the MRC and NIHR were able to move quickly and make sure the centre didn’t gather dust. It’s fantastic to know that a lot of the blood, sweat and tears that went into it is going to be used to benefit UK medical research.