Metabolomics: What Is It and Why Does It Matter?
I love the study of medicine. It is ever-evolving, and the information is limitless. This means that if I want to remain a knowledgeable physician, I need to stay up-to-date on the literature and read. It also means that I must use my skills to determine what is worth learning about versus what is nonsense and quackery. Well, I found something that is worth learning about, so of course, I’ve decided to share it with all of you. I am referring to metabolomics, which is a relatively newer field in the study of medicine. It’s exciting and worth knowing about, so I am going to provide a brief introduction to all of you on the topic. Mainly, what is it, why does it matter, and what we need to know about it. Let’s get to it.
What Is Metabolomics?
In short, it is the study of how our body processes molecules. But there is obviously more to the story. In order to understand metabolomics, we must first understand metabolism. Many of us think of how we burn calories when discussing metabolism, but that is only part of the story. The cells in our bodies participate in complex biochemical processes in order to sustain life. Metabolism is the study of those biochemical processes. Metabolomics is the study of the molecules used in those processes.1
This study uses advanced analytical techniques and measuring techniques to identify the molecules, their association with disease, their activity in response to drugs or environmental exposures, associated biomarkers, and what role they play in the big picture of our individual biology.2-4 In other words, think of taking a molecular snapshot of all the chemical activity happening in your body at a given moment. These molecules, also known as metabolites, directly reflect the state of your health, providing a real-time readout of your body’s biochemical processes—making metabolomics a powerful tool for understanding health and disease.
Why Is Metabolomics Relevant?
Historically, we have leaned heavily into genomics. We thought if we could figure out the human genome, we could predict who would get certain diseases and gradually eliminate those diseases. Well, we finished sequencing the human genome in 2022 and guess what, we still have disease.5 We’ve learned there is more to disease than genetics.
Metabolomics takes things a step further because it captures the combined effects of your genes, environment, diet, lifestyle, and even medications on your health. While genomics tells us about genetic potential and proteomics about ongoing processes, metabolomics reveals what has actually happened or is happening in your body right now. This makes it especially valuable for:
Diagnosing disease earlier and more accurately
Discovering new biomarkers for disease
Determining treatment response to disease and medications
Personalizing medicine by tailoring therapies to an individual’s unique metabolic profile.
Current Applications of Metabolomics
Even though metabolomics is a newer field in medicine, it is already being used in different ways.
Screening and diagnosing inborn errors of metabolism.
There are a variety of genetic conditions that interfere with the breakdown of carbohydrates, proteins, and fats. Newborns are screened for these conditions. Metabolomics enables the detection of multiple abnormalities in a single test. This has been very valuable especially when diagnosing some of the rarer conditions.4,6
Biomarker discovery for early disease detection and prognosis.
Many diseases have specific metabolic fingerprints. Discovering those fingerprints allows us to diagnose these conditions earlier, risk stratify, and assess prognosis for those conditions such as cancer, heart disease, diabetes, and other conditions.7
Providing personalized medicine.
Metabolomics supports individualized treatment strategies when it comes to monitoring treatment response and detection of adverse drug effects.7-9
The Future Is Bright
Current areas of research in metabolomics as they relate to healthcare are rapidly advancing across several clinical domains:
Continued improvement of newborn screening
We can currently detect more than 50 different disorders. Ongoing research is expanding upon the number of detectable conditions.10
Asthma and chronic obstructive pulmonary disease (COPD)
Millions of people have asthma or COPD. Current studies are identifying metabolic signatures in blood, exhaled breath, and other biofluids that correlate with disease severity, lung function and response to therapy. The goal is to match patients to the most effective therapies based on their metabolic profile.11-13
Cancer
This is a very prolific area of metabolomic research. Researchers are uncovering metabolic signatures of different cancers that can predict disease risk, progression, and therapeutic response. They are also trying to find very early metabolic markers for different cancers.14,15
Nutrition
Researchers are determining how different foods, dietary patterns, and gut microbiome interactions impact health at the molecular level. Current research is focused on understanding the metabolic effects of specific nutrients and diets and then developing precision nutrition strategies tailored to an individual’s metabolic response.16-18
Stay Tuned
Metabolomics is transforming our understanding of health and disease. It offers unprecedented opportunities for early diagnosis, personalized treatment, and prevention. I honestly believe that metabolomics will play an increasingly central role in guiding healthcare decisions. I am very excited to keep a close eye on all the new research that comes from this field and will be sure to keep all of you posted as we learn more. I would love to hear your thoughts on this. Please share your thoughts and comments.
References
- Klassen A, Faccio AT, Canuto GA, et al. Metabolomics: Definitions and Significance in Systems Biology. Advances in Experimental Medicine and Biology. 2017;965:3-17. doi:10.1007/978-3-319-47656-8_1
- Johnson CH, Ivanisevic J, Siuzdak G. Metabolomics: Beyond Biomarkers and Towards Mechanisms. Nature Reviews Molecular Cell Biology. 2016;17(7):451-459. doi:10.1038/nrm.2016.25
- Wishart DS. Metabolomics for Investigating Physiological and Pathophysiological Processes. Physiological Reviews. 2019;99(4):1819-1875. doi:10.1152/physrev.00035.2018
- Mietus-Snyder M, Perak AM, Cheng S, et al. Next Generation, Modifiable Cardiometabolic Biomarkers: Mitochondrial Adaptation and Metabolic Resilience: A Scientific Statement From the American Heart Association. Circulation. 2023;148(22):1827-1845. doi:10.1161/CIR.0000000000001185
- Nurk S, Koren S, Rhie A, et al. The complete sequence of a human genome. Science. 2022;376(6588):44-53.
- Odom JD, Sutton VR. Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management. Clinical Chemistry. 2021;67(12):1606-1617. doi:10.1093/clinchem/hvab184
- Mediani A, Baharum SN. Metabolomics: Challenges and Opportunities in Systems Biology Studies. Methods in Molecular Biology (Clifton, NJ). 2024:77-90.
- Jacob M, Lopata AL, Dasouki M, Abdel Rahman AM. Metabolomics Toward Personalized Medicine. Mass Spectrometry Reviews. 2019;38(3):221-238. doi:10.1002/mas.21548
- Cacciatore S, Loda M. Innovation in Metabolomics to Improve Personalized Healthcare. Annals of the New York Academy of Sciences. 2015;1346(1):57-62. doi:10.1111/nyas.12775
- Grooms AJ, Burris BJ, Badu‐Tawiah AK. Mass spectrometry for metabolomics analysis: Applications in neonatal and cancer screening. Mass spectrometry reviews. 2024;43(4):683-712.
- Moitra S, Bandyopadhyay A, Lacy P. Metabolomics of Respiratory Diseases. Handbook of Experimental Pharmacology. 2023;277:339-365. doi:10.1007/164_2022_614
- Dasgupta S, Ghosh N, Bhattacharyya P, Roy Chowdhury S, Chaudhury K. Metabolomics of Asthma, COPD, and Asthma-Copd Overlap: An Overview. Critical Reviews in Clinical Laboratory Sciences. 2023;60(2):153-170. doi:10.1080/10408363.2022.2140329
- Kelly RS, Mendez KM, Huang M, et al. Metabo-Endotypes of Asthma Reveal Differences in Lung Function: Discovery and Validation in Two TOPMed Cohorts. American Journal of Respiratory and Critical Care Medicine. 2022;205(3):288-299. doi:10.1164/rccm.202105-1268OC
- Vo D-K, Trinh KTL. Emerging Biomarkers in Metabolomics: Advancements in Precision Health and Disease Diagnosis. International Journal of Molecular Sciences. 2024;25(23):13190.
- Beger RD, Dunn W, Schmidt MA, et al. Metabolomics enables precision medicine:“a white paper, community perspective”. Metabolomics. 2016;12:1-15.
- Kortesniemi M, Noerman S, Kårlund A, et al. Nutritional Metabolomics: Recent Developments and Future Needs. Current Opinion in Chemical Biology. 2023;77:102400. doi:10.1016/j.cbpa.2023.102400
- Shibutami E, Takebayashi T. A Scoping Review of the Application of Metabolomics in Nutrition Research: The Literature Survey 2000-2019. Nutrients. 2021;13(11):3760. doi:10.3390/nu13113760
- Zhang J, Sun M, Elmaidomy AH, et al. Emerging Trends and Applications of Metabolomics in Food Science and Nutrition. Food & Function. 2023;14(20):9050-9082. doi:10.1039/d3fo01770b