What if we could understand and then treat diseases on an individualized level, in a way that was tuned to a person’s individual biology? Not in a futuristic, ‘wave a high-tech scanner across a person’s body’ way, but in a legitimate ’I can run a lab test and know the best action to take’ way. This is the promise of Precision Medicine, to deliver the right treatment to the right patient, at the right time, predicting more accurately which treatments will work for certain groups of patients, in contrast to the pervasive one-size-fits-all approach. More specifically, if we could provide a comprehensive report at the molecular level of an individual (based on genome, proteome, or metabolome profiles), a physician could be much better informed to make optimal treatment decisions. And if we could track these profiles over time, a person could adjust their lifestyle to focus on long-term wellness.
Delivering on this desire to provide wellness testing and individualized therapies requires a shift in the way translational research is performed. Researchers must go beyond just comparing healthy and diseased subjects to find potential biomarkers of disease or treatment success, but must study very large cohorts of subjects such that they can better understand the underlying biology, stratifying results to reflect the high biological variation in humans. For instance, consider a drug that shows promise for treating a disease. We need to understand how that drug acts in the body and which enzymes target that drug to either convert it to its active form or break it down to get rid of it from the body. If we could check an individual’s genetic makeup to confirm that they have adequate levels of the right enzymes to activate the drug (rather than breaking it down too quickly), treatment could ultimately be tuned to ensure that the individual is getting the benefit of that specific drug. This is where medicine becomes personalized, instead of a one-size-fits-all approach.
In the life sciences, Precision Medicine is growing. The Precision Medicine Initiative, launched by United States President Barack Obama in 2015, earmarked increased funding for scientists to set-up large cohort studies, industrializing omics research at the scale needed to deliver the data and statistics required to make precision medicine a reality. Picture heavy duty genetic analyzers or mass spectrometers lined up in a lab! The comprehensive and reproducible results scientists can generate across these large sample cohorts then allow subsequent connections between the omics datasets, the clinical information, and a person’s phenotype.
Discoveries with this level of biological understanding have helped to the charge towards developing more powerful cancer treatments. For example, not all breast cancers are the same. One in five is due to a mutation in the HER2 gene, which causes overexpression of this protein promoting cancer cell growth. Because this specific mutation can be detected with a lab test, therapies can be targeted to this type of cancer, improving survival rates. By finding the differences in the genes, proteins, metabolites, and lipids that are specifically causing the disease in the population subsets, we accelerate our capability to improve diagnosis and track treatment of the disease.
SCIEX users and partners are involved in this ground-breaking research right now. By applying our industrialized omics solutions to these large cohort studies, they hope to better understand the biology and find potential biomarkers. It is a long, challenging process—from pinpointing the right proteins/metabolites that signal specific conditions, to validating that these hold up under large scale rigorous testing, the research is vast and extensive.
At SCIEX, we’re proud to be collaborating with researchers involved in Precision Medicine efforts. As our partners and collaboration are thinking about advancing the science, we’re thinking about advancing the technology to enable their research – “Where can we improve, what are the needs, and what more can we do?” Just as mass spectrometry has evolved with continued innovation, so too will Precision Medicine, as the path is only beginning.