Multiomic blood correlates of genetic risk identify presymptomatic disease alterations

Dr. Hood likes to say that blood is a window into our personal wellness, and this study confirms the adage. Because we are focused on preventative medicine, we are interested in the dysregulation our biological networks exhibit as we transition from a state of health to that of disease. This dysregulation operates under the influence of genetic and environmental factors, and it can happen over the course of years, or even decades, before we finally begin to exhibit any clinical symptoms that alert us we are not well. 

In this study, we developed an approach using risk scores for over fifty diseases using multi-omic profiling and by testing the blood plasma from thousands of mostly healthy individuals. Not only were we able to detect changes in the blood based on these risk scores, but we found associations that could potentially inform therapeutic strategies. In short, this study concludes that the pre-symptomatic transition from health to disease is detectable in our blood. It also confirms that the future of medicine is predicting disease before it manifests, rather than treating disease after a diagnosis. 

Results roundup:

  • Your predisposition to some complex diseases be computed by looking at the genes—sometimes hundreds—that have been observed to contribute, which is summarized in your “polygenic risk score” 
  • We found that people at elevated genetic risk for 54 diseases have hundreds of detectable changes in blood protein and metabolite levels as well as clinical laboratory tests
  • These changes were present in people with the disease, suggesting the observed blood signatures may be useful in early diagnosis of these conditions

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