Genes and lifestyle both factor in phenome facility

The MRC-NIHR Phenome Centre, opened on 5 June, is the world’s first large-scale national phenomics facility. It will help scientists and doctors better understand how the interaction between a person’s genes and the environment (phenomics) affects that person’s susceptibility to various diseases, such as heart disease, cancer, autism, diabetes, Alzheimer’s and other health conditions.

The centre is a collaboration between Imperial College London (where it is based), King’s College London and analytical technology companies Waters Corporation and Bruker Biospin. It is funded by the Medical Research Council (MRC) and the National Institute for Health Research (NIHR). Its director is Professor Jeremy Nicholson.

The facility will analyse phenomes by examining around 100,000 blood and urine samples every year. A phenome describes a person’s internal chemistry, including all the molecules that are a result of their genetics and lifestyle. Research says phenomes are constantly changing, often in response to environmental influences such as chemical exposure, food, exercise, stress, vaccinations and more.

Environmental factors have significant effects on a person’s tendency to specific diseases and conditions; phenome analysis will help doctors determine what causes some people to have certain diseases and suggest ways to tailor treatments. It will go beyond genomics research, which can’t account for environmental factors.

Professor Nicholson said the study of 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.”

The centre uses millions of pounds worth of nuclear magnetic resonance and mass spectrometry technology to give accurate readings of the chemical make-up of people’s blood and urine. The equipment measures the chemicals (eg, fats, sugars, vitamins and hormones) produced by our bodies as well as those that come from our food, drink, medicines and air. 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 of 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 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. In that period, the centre will also test the thousands of samples already stored by researchers working at the NIHR’s Biomedical Research Centres and Units - collaborations between leading NHS hospitals and universities that focus on ensuring patients benefit from the most promising medical research.

Equipment donated by Waters and Bruker allows for the inclusion of a state-of-the-art international training facility. This will enable students, scientists and doctors from around the world to gain hands-on experience in using analytical technology to study human phenomes.

Art Caputo, President of the Waters Division at Waters Corporation, said the company was proud to be part of the research centre, saying it will be “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”. He hopes the future will see affiliated centres around the world.

The centre also has the support of British Prime Minister David Cameron, who called it “an impressive example of collaboration between top-class research, the NHS and industry… and it will lead the world in the development of precision medicine”.