Overview 

Omics encompasses several technologies used to study different structural and functional components. It can be used to study biological molecules such as DNA and proteins to investigate microbial populations within an organism, and how people react to environmental factors at a biological level. It is a rapidly evolving field with many advances in omics technologies in recent years. Multiple omics technologies are being introduced within healthcare systems to understand diseases, guide drug development, improve the detection of diseases, and inform potential treatment options.

What are omics?

The rapid evolution of technology has led to advancements in the field of Omics. Current advances in integrating sets of data and artificial intelligence (AI) applications, such as machine learning, lead to fast and efficient ways of collecting, processing, and integrating large amounts of health-related information.¹ Machine learning can be used to ‘’learn’’ from big sets of health-related data to help identify patterns and associations within the data, which scientists and healthcare professionals might not be able to identify otherwise.¹

Omic technologies produce large amounts of biological data which are analyzed to understand and diagnose diseases and inform suitable treatment options.²

Types of omics

Omics technologies are called ‘omics’ because they all have the same suffix. There are several different types of Omics:³

• Genomics – genomics is study of genomes (genes in the body).  Genes are made up of DNA and DNA is made up of a specific nucleic acid sequence. This sequence can be determined by genomics technologies and used to study the variations of genes between individuals and mutations within their genomes. There are around 20000 protein-coding genes in the human body. This means that specific genes can be ‘’read’’ by specialized molecules and be used to build proteins, which are needed for normal functions of the body. If DNA is mutated, it can lead to severe disorders and diseases, such as cancer and cystic fibrosis
• Transcriptomics – transcriptomics is the study of all the ribonucleic acid (RNA) present in the body. Before DNA can be translated into a protein, to be turned into an intermediate molecule through transcription. During the transcription, the DNA sequence of a specific gene gets copied into a sequence of a molecule called messenger RNA, which can then be translated into a protein. There are other RNA types: transfer RNA, which is also involved in protein production, and ribosomal RNA and non-protein coding RNA, which are involved in cellular functions. Similar to genomics, RNA sequence can be determined through transcriptomics technologies. Studying RNA can tell in which parts of the body the gene is active or not, and can be used to determine the quantity of gene activity, otherwise known as gene expression. While almost all the cells in your body have the same genes, they have different gene expression patterns. Gene expression can also increase or decrease because of certain diseases
• Proteomics – proteomics is the study of proteins that make up the body (or cells, tissues, organs). Protein levels relate to the amount of mRNA made for that protein, however, they are also affected by other factors. After the protein is produced, it undergoes changes, post-translational modifications (PTMs). PTMs can change the structure of the protein, which then changes its function.⁴ Proteomics can be used to study where the protein is expressed, the amount of that protein, how that protein is modified, and estimate how fast proteins are produced and degraded.
• Metabolomics – metabolomics is used to study metabolites present in the body or its compartments, such as cells, fluids, or organs. Metabolites are small molecules created or used during metabolism, where your body breaks down food, drugs, chemicals, or tissue. Metabolites include nucleotides, carbohydrates, amino acids, and fatty acids. Determining changes in metabolites can be used to diagnose certain diseases, predict how the disease will progress, and understand how some diseases develop.⁵
• Epigenomics – epigenome consists of chemical compounds and proteins that can attach themselves to DNA, also known as a ‘’mark’’ on DNA. Epigenetic marks can turn on or off the genes in particular cells, affecting gene expression. When a cell divides, the daughter cells may have the same epigenetic marks. Epigenetic marks can also be passed on from a parent to a child. Cells in the body have different specific functions as they are a part of different tissues and organs. Because of this, only genes that are needed for that particular cell to function are expressed. Epigenome helps regulate this specific gene expression. Abnormal epigenetic marks can lead to activation or inactivation of genes involved in certain diseases, such as cancer, autoimmune disorders, and neurological disorders.⁶
• Microbiomics – the microbiome is the community of trillions of microorganisms in your body, that include bacteria, fungi, parasites, and viruses. The microbiome interacts with your body, and this interaction can:
  • Be beneficial for you, such as by helping you produce essential vitamins
  • Harm you, for instance, increase your risk of developing certain cancers
  • Be neutral, neither harm you nor benefit you

Investigating changes in the microbiome helps to understand of diseases as well as the risk of developing them.

• Interactomics – interactomics is a study of interactions between biological molecules as well as the consequences of those interactions. Several types of interactions can be studied, including protein-protein, protein-metabolite, RNA-protein, DNA-protein, RNA-RNA, and DNA-RNA interactions. Studying these interactions can further increase our understanding of how our bodies work and how diseases develop and progress, and can help with identifying potential drug targets in diseases.

Applications of omics technologies in medicine

The rapid advances of omics technologies have positioned it to the revolution that current medicine needs. Omics technologies can be used in several different ways to improve current healthcare systems, such as in diagnostics, prognostics, and personalised medicine.

Improved diagnosis of diseases

Omics technologies, such as proteomics, can be used to identify and measure certain biomarkers, which are measurable biological markers used to diagnose, monitor, and predict disease risk. It can be used to diagnose multiple diseases, such as diabetes mellitus and cancer. For instance, several biomarkers can be used to aid in the diagnosis of endometrial cancer, such as CALML3, TXN, FABP5, C1RL, MMP9, ECM1, S100A7, and CF1.⁷

Additionally, omics technologies, such as genomics, can be used to diagnose rare diseases, such as Mendelian diseases, and rare inherited genetic diseases with a single gene mutation. Genome sequencing can successfully reveal the causative mutations of these diseases in around 25–50% of cases.²

Predicting prognosis in patients

Omics technologies can be used to identify and measure predictive biomarkers too. These biomarkers can predict how the disease will progress and how well the patient might react to a treatment.⁸

Moreover, omics technologies can be used to analyse expression levels of certain genes in cancer to help classify cancers into specific subtypes and predict patients’ prognosis as well as the benefits of potential therapies.⁹

Personalised medicine

Omics technologies can be used to identify mutations, and gene and protein expression changes that can guide the selection of appropriate treatment. Investigating mutations of epidermal growth factor receptors in non-small-cell lung cancers can help with choosing the right immunotherapy.¹ Furthermore, pharmacogenomics can be used to study how variations of genes might affect your responsiveness to drugs and what kind of adverse drug reactions you might have. This way the most effective and safe treatment can be chosen based on the patient’s genes, expression patterns, and function.¹⁰

Challenges and ethical considerations

While omics technologies are promising, there have been some setbacks in implementing these technologies. Firstly, clinicians might be reluctant to use omics in clinical settings because they are unfamiliar with it and it might seem like a costly option.¹ On top of that, there are some potential ethical issues surrounding informed consent for testing and how large sets of data for each individual will be managed and stored.¹

Summary

Omics technologies are rapidly advancing and they are being integrated in medicine. There are several types of omics, which can be used to study gene variation, expression levels, protein changes, and microbiome composition to help assess an individual’s health status as well as their risk to develop a certain disease. Omics technologies are used by healthcare professionals in the diagnosis, prediction, progression of the disease and response to the treatment. Omics technologies have a lot of promise, however, there are certain challenges that it needs to overcome, such as how to store and manage large amounts of data, before they can realise their full potential.