The research team, who measured thousands of proteins in a drop of blood, report the ability of protein ’signatures’ to predict the onset of 67 diseases including multiple myeloma, non-Hodgkin lymphoma, motor neurone disease, pulmonary fibrosis, and dilated cardiomyopathy.
The research, published today in Nature Medicine , was carried out as part of international research partnership between UCL, GSK, Queen Mary University of London, Cambridge University and the Berlin Institute of Health at Charité Universitätsmedizin, Germany.
The researchers used data from the UK Biobank Pharma Proteomics Project (UKB-PPP), the largest proteomics study to date with measurements for approximately 3,000 plasma proteins from a randomly selected set of over 40,000 UK Biobank participants. The protein data is linked to the participants’ electronic health records.
The authors used advanced analytical techniques to pinpoint, for each disease, between the five and 20 proteins most important for prediction.
The protein prediction models out-performed models based on standard, clinically recorded information. Prediction based on blood cell counts, cholesterol, kidney function and diabetes tests (glycated haemoglobin) performed less well than the protein prediction models for most examples.
The patient benefits of measuring and discussing the risk of future heart attack and stroke (’cardiovascular risk scores’) are well established. This research opens up new prediction possibilities for a wide range of diseases, including rarer conditions. Many of these can currently take months and years to diagnose, and this research offers wholly new opportunities for timely diagnoses.
These findings require validation in different populations including people with and without symptoms and signs of diseases and in different ethnic groups.
Co-author Professor Spiros Denaxas, from the UCL Institute of Health Informatics, said: "Identifying individuals at high risk of disease through novel markers is one of the cornerstones of medicine. Current efforts tend to focus on single (or a handful) of diseases at a time due to limited data availability.
"Our study exemplifies how the usage of electronic data collected during clinical care can enable scientists to study hundreds of diseases at the same time and uncover novel predictive signatures."
Lead author Professor Claudia Langenberg, from Queen Mary University of London and the Berlin Institute of Health at Charité Universitätsmedizin, said: "Measuring one protein for a specific reason, such as troponin to diagnose a heart attack, is standard clinical practice. We are extremely excited about the opportunity to identify new markers for screening and diagnosis from the thousands of proteins circulating and now measurable in human blood.
"What we urgently need are proteomic studies of different populations to validate our findings, and effective tests that can measure disease relevant proteins according to clinical standards with affordable methods."
First author Julia Carrasco Zanini Sanchez , research student at GSK and the University of Cambridge at the time and now postdoctoral researcher at Queen Mary University of London, said: "Several of our protein signatures performed similar or even better than proteins already trialled for their potential as screening tests, such a prostate specific antigen for prostate cancer.
"W e are therefore extremely excited about the opportunities that our protein signatures may have for earlier detection and ultimately improved prognosis for many diseases, including severe conditions such as multiple myeloma and idiopathic pulmonary fibrosis.
"We identified so many promising examples, the next step is to select high priority diseases and evaluate their proteomic prediction in a clinical setting."
Mark Greaves
m.greaves [at] ucl.ac.uk+44 (0)20 3108 9485
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