Nature or Nurture –Mysteries Unravelling

A new research facility which has put the UK at the forefront of a revolution in health and medical research opened in London during June. The MRC-NIHR Phenome Centre, which has the capacity to examine around 100,000 blood and urine samples every year, will analyse phenomes – the biological results of people’s genes and environment – to help determine the causes of disease and indicate how treatments can be tailored for individual patients.

A collaboration between Imperial College London, King’s College London and analytical technology companies the Waters Corporation and Bruker Biospin,  the facility is funded by the Medical Research Council (MRC) and the National Institute for Health Research (NIHR). The Phenome Centre is based at Imperial where director Professor Jeremy Nicholson, is head of the Department of Surgery and Cancer.

Professor Nicholson said: "The sequencing of the human genome generated a lot of excitement among scientists and the public, but studying our genes has revealed less than we had hoped about common diseases such as cancer, diabetes and heart disease. By studying the phenome we can examine the effects of our genes, our lifestyle and our environment. What we discover about the causes of disease can be used to inform healthcare.”

Nuclear magnetic resonance and mass spectrometry technology are used to accurately determine chemicals, such as fats, sugars, vitamins and hormones, produced by our bodies as well as those that come from our food, drink and medicines, and the air we breathe. It can even detect the different types of bacteria naturally occurring in the gut, which can influence our health.

"This technology is already in use in medical research but only on a small-scale. With the creation of this new facility, it will now be possible to get a complete and accurate biological read-out of thousands of individuals," said Professor Frank Kelly, Co-Investigator at the Centre and Director of Analytical and Environmental Sciences Division at King’s College London.

"The ability to study the phenome on an industrial scale means we can pick apart the complex circumstances, genetic and environmental, that cause conditions like cancer, diabetes and heart disease."

Professor Paul Elliott, Co-Investigator at the Centre and Head of the Department of Epidemiology and Biostatistics at Imperial, said: "The MRC-NIHR Phenome Centre offers an unprecedented opportunity to apply nuclear magnetic resonance and mass spectrometry on a large scale to unlock information on genes, environment and lifestyle contained in stored blood and urine samples from thousands of people whose long-term health is being monitored."

Professor Nicholson added: "It will also allow us to see how individual patients respond to different treatments over time. For example, we could quickly discern whether a cancer patient is responding to chemotherapy and if not, switch to a different treatment, without wasting valuable time. And the data we gather will mean that, ultimately, we will be able to predict which treatments will work for which patients, based on their phenome.”

The centre has secured funding of £10 million from the MRC and NIHR for its first five years.

Chief Medical Officer, Professor Dame Sally Davies said: "The unprecedented capacity of the centre will allow health researchers a brand new window into how our genes interact with the environment, catalysing advances in diagnosis, treatment and personalised healthcare. This globally unique facility will also facilitate collaborative research with the life sciences industry and therefore has the potential to contribute to the nation’s growth. It’s a win-win situation for us all."

Thanks to donations of additional equipment from Waters and Bruker, the centre will also include an international training facility, enabling students, scientists and doctors from around the world to gain hands-on experience of using analytical technology to study the human phenome.

Art Caputo, President of the Waters Division at Waters Corporation, said: "Waters is proud to be part of this first-of-a-kind research centre and the opportunity to work with such distinguished partners. Our mission at Waters is to advance science to constantly push the boundaries of what’s possible. We fully expect this centre will do just that, multiplying our understanding of disease, setting the standard for this field of research and continually helping us to improve the health of populations around the world. There are no limits to the breakthroughs in health we might see as a result of work here at the NIHR-MRC Phenome Centre and hopefully in the near future in affiliated centres across the world, too."

Dr Manfred Spraul, Director of Applied NMR Business Development at Bruker BioSpin GmbH, said: "We are pleased that Bruker’s cutting-edge NMR solutions can provide the fully automatic analysis capabilities required to help drive the centre’s huge screening programme. Establishing a high throughput system was the first step in bringing NMR inside a healthcare environment, providing large scale epidemiology screening at the same time. Now we are very excited to see our technology impacting the wider field, enabling the personalised phenotyping that will help provide ever more accurate diagnoses and drive new drug development and targeted treatment.”