Omics sciences: redefining health

October 29, 2024

In recent years the term '–omics' has been gaining popularity in scientific and medical circles. The omics sciences, a category that includes genomics, proteomics, transcriptomics, metabolomics... among others, represent a comprehensive approach to the study of biological components within a complex biological system such as, for example, a person.

Among all of them, genomic science stands out as one of the most revolutionary areas, laying the groundwork for major medical advances in the world of precision medicine that, assisted by the processing of large amounts of data and AI, improves the ability to prevent, detect and treat diseases in a personalized way, based on the individual genetic characteristics of each person.

What are the omics sciences?

The concept of omics derives from the suffix '-oma', which refers to the complete set of biological components of a specific system. For example, the 'genome' refers to the complete set of genes of an organism, while the 'proteome' refers to all the proteins expressed ('made') by the cells or tissues of an organism.

The omics sciences, therefore, are the study of these assemblies as a whole, rather than examining each component (a gene, a protein...) in isolation.

All these sciences have in common an integrative and systemic approach, seeking to understand not only the individual parts of an organism, but how they all interact to influence its health and development. This holistic approach is fundamental to modern medicine, as it allows for a more precise and detailed understanding of the biological mechanisms that affect people's health.

Genomics: the heart of the omics sciences

Of all the omics sciences, genomics is perhaps the best known and most fundamental. It focuses on the study of DNA, the genetic material that contains all the necessary information for the development, functioning and reproduction of living beings. It could be said that DNA is the cell's instruction manual. Our genome is all that DNA, including all its genes (which are nothing more than functional units of DNA).

What is genomics?

Genomics encompasses the study of the structure, function, evolution and mapping of the genome. The terms 'genetics' and 'genomics' are often confused, but have important differences:

Genetics is the study of individual genes and how they are inherited from generation to generation, focusing on how specific traits (such as eye color, or predisposition to a disease) are passed down through families.
Genomics refers to the study of the entire genome and its interaction with the environment. Whereas traditional genetics usually studies one or a few genes at a time, genomics allows scientists to study all the genes of an organism simultaneously, along with their interactions.

✅ The key tool in genomics is DNA sequencing, a process that makes it possible to determine the exact order of nucleotides (the basic units of DNA) in an organism's genome. Early sequencing technologies, such as the Sanger method, were slow and expensive, but advances in recent decades have led to the development of next-generation sequencing (NGS) technologies, which are much faster and more efficient..

Other omics sciences and their relationship to precision medicine

While genomics is the best known and most applied omics science, the other omics disciplines also play a crucial role in precision medicine. The combination of different omics approaches allows for a comprehensive view of the organism, which can reveal complex interactions that are not evident when studying only one layer of information.

Proteomics

Proteomics is the study of the complete set of proteins expressed by a genome, and is essential for understanding biological function in the context of health and disease. Although genes provide the instructions for creating proteins, it is proteins that carry out most cellular functions.

Proteomics can help identify biomarkers of disease, i.e., proteins that change in quantity or structure in response to a disease, in precision medicine. These biomarkers can be used for early diagnosis, treatment monitoring or even as therapeutic targets.

✅ It has been identified, for example, that certain levels of specific proteins can predict the progression of neurodegenerative diseases such as Alzheimer's or Parkinson's, allowing earlier and more personalized intervention.

Transcriptomics

Transcriptomics focuses on the study of RNA, the molecule that transcribes DNA information for use in protein synthesis. Let's say it transcribes that instruction manual that is DNA into tools that can be used to build the protein in question.

Analysis of RNA transcripts can provide dynamic insight into how genes are expressed (i.e. 'turned on') in different contexts, such as the development of a disease or response to a treatment.

✅ In the field of oncology, for example, transcriptomics has made it possible to identify specific genetic signatures that can predict which patients will respond best to certain treatments. This can help physicians avoid ineffective or unnecessary treatments and direct patients to the most appropriate therapies.

Epigenómica

Epigenomics deals with changes in gene expression ('activation' of some genes or others) that are not caused by alterations in the DNA sequence, but by chemical modifications in the DNA or in the associated proteins, such as DNA methylation. These epigenetic modifications can be influenced by environmental factors, such as diet, stress, exposure to toxins, ...

In precision medicine, epigenomics enables a deeper understanding of how the environment interacts with the genome to influence health.

✅ Epigenetic studies, for example, have identified DNA methylation patterns that can predict response to certain drugs or the risk of developing cancer.

The future of omics and precision medicine

The future of omics and precision medicine is extremely promising. Due to the rapid evolution of sequencing and data analysis technologies, it will soon be possible to integrate multiple layers of omics information into a single clinical analysis, providing physicians with a complete picture of a patient's health status.

The development of artificial intelligence and machine learning tools is also making it possible to analyze the vast datasets generated by the omics sciences in a way that supports the clinician's decision making. They will make it possible to identify complex patterns that would be impossible to detect using traditional methods, which will lead to even more precise personalization of medical treatments.