What is a Phenome?

The phenome can be broadly described as the effects of our genes, our lifestyle and our environment and can be examined using biofluids and tissues. Healthcare can be informed by what we discover about the causes of disease by studying the phenome and relating this to available clinical and other data.

What is the National Phenome Centre?

The National Phenome Centre (NPC) offers a unique capability in targeted and exploratory high-throughput metabolic phenotyping and assay development, as well as a computational medicine capability for the provision of data, models and interpretation. The NPC provides, at scale, the ability to analyse both patient and population-based samples for biomarker discovery and validation, improved patient stratification through development of robust diagnostic and prognostic markers, and early identification of drug efficacy and safety and other responses to treatments.

It comprises state-of-the-art mass-spectrometry (MS), linked to Imperial’s world-class high-throughput Nuclear Magnetic Resonance (NMR) located within Biomolecular Medicine at South Kensington.

The NPC provides the means and infrastructure to advance the capability of the BRCs (and other researchers both academic and industry-based) -omics methodologies to the large-scale metabolic phenotyping of patient and epidemiological samples. These research principles are also finding important translational applications for monitoring complex patient journeys in the NHS Hospital Trust environment such that “patient journey phenotyping” is already a realistic prospect for improving patient care.

Who is involved?

The MRC and NIHR awarded a joint proposal by Imperial College London and King’s College London to establish an MRC-NIHR National Phenome Centre, delivering broad access to a world-class capability in metabolic phenotyping that benefits the whole UK translational medicine community.

The National Phenome Centre supports the needs of the whole UK research community. Professor Jeremy Nicholson, Head of the Department of Surgery and Cancer at Imperial College, is the lead Principal Investigator and recipient of the £10 million grant, taking the role of Director of the Centre.

In addition to the £10m grant, there have been significant contributions of staff, equipment and technical support from major instrument suppliers of both MS (The Waters Corporation) and NMR (Bruker Biospin GmbH). These companies are also working closely with the National Phenome Centre to develop the technology platforms and also with the Department in the establishment of a major training centre.

Who is the National Phenome Centre open to?

The NPC is open to the whole research community – academic or commercial. To ensure open and fair access to the Centre, access is awarded via an Access Committee, Chaired by Professor Stephen Holgate (University of Southampton) who is independent of the Centre, with representatives from the BRC/BRU Director’s Group, industry and other UK and EU-based academic institutions.

What types of sample can be analysed?

The NPC will only analyse human samples of urine, plasma and serum, which must be fit for purpose and must have at least minimum level of linked data. Bioinformatics support (local or through collaboration with Centre PI’s) must be in place prior to start of analyses.

Consent and ethics approval for the requested studies must also be in place and relevant documentation provided.

There are some restrictions on the types of samples we are able to analyse within the Centre. Where EDTA is used as an anti-coagulant, this has a significant adverse effect on the accuracy of results. Samples containing EDTA will, therefore, only be analysed in exceptional circumstances. The Centre is always happy to offer advice regarding sample collection and historic sample suitability for studies – please contact the Centre on phenomecentre@imperial.ac.uk [link] for further advice and information.

Unfortunately, the Centre is currently unable to accept samples from cohorts knowingly carrying the HIV infection.

What types of assays are available?

The NPC offers a range of assays, both to provide broad profiling capabilities and targeted analysis, and over time the number and range of analyses will gradually be expanded (please see Services for further information). For the first 12-18 months the Centre focused on metabonomic analysis using NMR and/or MS analysis of samples from epidemiology studies only. However, the Centre has now expanded its remit and is able to offer access to stratified medicine projects.

What volumes of samples are required?

The NPC’s sample volume requirement will vary depending upon the type and number of assays being undertaken. Each assay undertaken requires a dedicated volume of sample and so the more detailed information you require from your samples by undertaken more assays the higher the volume which will be required. For estimates of the volumes required for each of the assays available in the Centre, please see Services page.