Proteins in the blood can predict the risk of developing more than 60 diseases
The research results, which were published today in Nature Medicine, show that protein ‘signatures’, combinantions of a small number of 5-20 proteins, predict the risk of 67 different diseases. These include multiple myeloma, non-Hodgkin's lymphoma, motor neuron disease, pulmonary fibrosis and dilated cardiomyopathy.
Thousands of proteins can now be measured using just a small drop of blood and this new study shows how these provide important insights into the risk of developing disease in the future. Using data generated by the UK Biobank PharmaProteomics (UKB-PPP) project, the largest proteomics study to date, the team analyzed data from around 3,000 plasma proteins from a randomly selected group of over 40,000 blood samples linked to disease diagnoses from participants' electronic health records.
New possibilities for timely diagnoses
Using state-of-the-art analytical methods, the researchers were able to identify which 5 to 20 proteins in the blood are the most relevant for predicting certain diseases. The protein prediction models were able to show better predictive accuracy than conventional models based on standard clinical information such as blood count, cholesterol, kidney function and diabetes tests. This research opens up new prediction possibilities for a wide range of diseases, including rare diseases. Many can currently take months or years to be diagnosed. The research results offer new possibilities for prevention and earlier detection. The next step is validation of these proteins signatures in different populations, including different ethnic groups.
Prof. Claudia Langenberg, lead author of the study, says: “The measurement of proteins, for example troponin for the diagnosis of a heart attack, is standard clinical practice. It is a huge step that we can now identify new potential markers for screening and diagnosis from the thousands of proteins that circulate and can be measured in human blood.” Prof Langenberg heads the Computational Medicine group at the BIH and is Director of the Institute of Precision Medicine at Queen Mary University of London, UK. “What we now urgently need are tests that can measure disease-relevant proteins using assays that fulfil clinical standards and are affordable.”
First author Dr. Julia Carrasco Zanini Sanchez, former research student at GSK and the University of Cambridge and now a postdoctoral fellow at the Precision Healthcare University Research Institute (PHURI), says: “Several of our protein signatures performed similarly or even better than proteins that have already been tested for their potential as screening tests, such as prostate-specific antigen for prostate cancer. We are therefore optimistic about the potential value of our protein signatures for the early detection and ultimately prognosis improvement of many diseases, including serious diseases such as multiple myeloma and idiopathic pulmonary fibrosis. We have found so many promising examples that the next step is to select high priority diseases and evaluate their proteomic prediction in a clinical setting.”
Dr. Robert Scott, Vice President and Head of Human Genetics and Genomics at GSK and senior co-author of the study, says: “A key challenge in drug development is identifying patients who are most likely to benefit from new medicines. This work shows the promise of using large-scale proteomics technologies to identify individuals at high risk of a variety of diseases. It is consistent with our approach of using technology to deepen our understanding of human biology and disease. Further work will expand these insights and improve our understanding of how they can best be used to increase success rates and efficiency in drug discovery and development.”
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Konstanze Pflüger
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Phone: +49 (0)30 450 543 343
E-mail: konstanze.pflueger@bih-charite.de
