Introduction:
Since the start of the 21st century, mass innovation within the biomedical field has allowed for the analysis of the smallest components found in the body to contribute to both research and medical applications. The macromolecules at the heart of this analysis include DNA, RNA, proteins, and even molecules associated with the body’s various metabolic processes. This has given rise to the fields of genomics, transcriptomics, proteomics, and metabolomics, respectively.
Genomics
Genomics covers the study of a person’s DNA and genes, aka their genome, how it is expressed, and any data that results from that expression. While related to the field of genetics, there is a distinct difference between the two, with that difference being that genetics focuses on individual genes. Genomics, on the other hand, focuses on the entirety of a person’s genome. This can be beneficial in healthcare since a significant portion of conditions, save for a small minority, result from interactions of several genes with the environment.
Presently, the field of genomics is used in medicine as a means to diagnose conditions that might otherwise be hard to diagnose due to a lack of signs, symptoms, or other abnormalities found in biochemical or histological evidence. As technology and collective knowledge continue to improve, genomics is beginning to see a shift from a diagnostic tool to one that can give insights into identifying inherited health risks on individual and population levels. It also shows promise in cancer treatment, as it provides a means to identify genetic mutations that can be used to develop more specific and effective treatment methods. [1]
Transcriptomics
Transcriptomics focuses on the entire collection of the many types of RNA in any given cell. RNA is the other prominent nucleic acid found within cells and is transcribed from DNA. Because of this, an RNA molecule is also referred to as a transcript. There are many types of transcripts, but the main type is messenger RNA (mRNA). This transcript type conveys the information stored by genes that ultimately code for proteins, and as a result, are also a way to measure gene expression.
The transcriptome, as in the collective of all transcripts within a cell, can differ between cell types. This results from varying levels of gene expression in different cells that serve different functions, despite all cells carrying the same collection of genes. Although not as widely used as genome-based diagnostic methods, transcriptomics can serve to supplement genomics with its ability to more accurately measure gene expression within a live being. One such example of this is being able to identify changes in the transcriptome that correlate with early breast cancer, where such tests already exist to help determine the benefit of chemotherapy with certain types of breast cancer. [2]
Proteomics
Proteins are the biomolecule of interest in the field of proteomics. Much like the two aforementioned ‘omics, proteomics focuses on all the expressed proteins that can be found in a cell at any given time. This collection of proteins is referred to as the proteome. Unlike the previously mentioned ‘omics, the way proteomics is studied is more complicated and can be approached in a variety of ways. These approaches are as follows: [3]
Expression proteomics: studies how much of a protein is expressed and how well formed it is; also compares differing expression levels between normal conditions and abnormal conditions (such as illness or in response to environmental factors).
Structural proteomics: studies where certain proteins are physically located within the cell and its organelles.
Functional proteomics: studies what functions any given protein has, what cellular processes it may be involved in, and any interactions it may have with other proteins.
Although proteomics is more complicated than both genomics and transcriptomics, it is capable of providing a more in-depth picture of what is happening in any cell at a given time. This is due to environmental stimuli impacting the level of expression of proteins, causing expression to change over time in response to different external factors. This trait of proteomic studies can help to diagnose and treat a variety of conditions, such as cancer, cardiovascular diseases, kidney diseases, and infectious diseases. In addition to this, it can allow for advancements in understanding stem cell and neurological developments, as well as in drug discovery and personalized medicine. [3]
Metabolomics
Although complementary to the other big ‘omics of molecular biology, metabolomics differs from genomics, transcriptomics, and proteomics in a major way. Rather than focusing on a single type of molecule that is produced within the cell, metabolomics focuses on the molecules that enter the body and the compounds that result after a metabolic process occurs. These molecules are referred to as metabolites and the collection of the metabolites within the body is referred to as the metabolome. Examples of metabolites can include anything from lipids, amino acids, and carbohydrates. [4,5]
Due to metabolomics analyzing how metabolites are processed within the body, this ‘omic is a more encompassing view of the molecular “phenotype.” Currently, metabolomics is being used, alongside primarily genomics, to identify differences in metabolites and metabolic processes in conditions such as obesity, diabetes, cancer, cardiovascular diseases, and neurodegenerative diseases. It is also currently being used to make headways in research focusing on human responses to both environmental factors and drugs. [5]
Conclusions
Each of the ‘omics fields mentioned above is utilized to help further understand different aspects of human health to varying degrees and has contributed to improvements in diagnosis and treatment. Limitations in understanding and improvement may be overcome when these methods are used in a complementary fashion to build a better understanding on any given disease or other natural phenomenon of the human body.
References:
Williams GA, Liede S, Fahy N, et al. Regulating the unknown: A guide to regulating genomics for health policy-makers [Internet]. Copenhagen (Denmark): European Observatory on Health Systems and Policies; 2020. (Policy Brief, No. 38.) Annex A: What is genomics? Definitions and applications. Available from: https://www.ncbi.nlm.nih.gov/books/NBK569502/
Tsakiroglou, M., Evans, A., & Pirmohamed, M. (2023). Leveraging transcriptomics for precision diagnosis: Lessons learned from cancer and sepsis. Frontiers in genetics, 14, 1100352. https://doi.org/10.3389/fgene.2023.1100352
Gobena S., Admassu B., Kinde M.Z., Gessese A.B. Proteomics and its current application in biomedical area: Concise review, The Scientific World Journal, 2024, 4454744, 13 pages, 2024. https://doi.org/10.1155/2024/4454744
Embl-Ebi. (n.d.). What is Metabolomics?. EMBL’s European Bioinformatics Institute. https://www.ebi.ac.uk/training/online/courses/metabolomics-introduction/what-is/
Gonzalez-Covarrubias, V., Martínez-Martínez, E., & Del Bosque-Plata, L. (2022). The Potential of Metabolomics in Biomedical Applications. Metabolites, 12(2), 194. https://doi.org/10.3390/metabo12020194
Embl-Ebi. (n.d.). What is Metabolomics?. EMBL’s European Bioinformatics Institute. https://www.ebi.ac.uk/training/online/courses/metabolomics-introduction/what-is/ [cover image]
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