Beyond the Genome

Besides your genes, what else affects your health? Here, we guide you through ‘omics approaches for investigating disease and advancing precision medicine.

Previously, we saw how your DNA can impact health and disease. As important as it is, genomics alone won’t capture the full picture of all the events happening inside your body. Indeed, understanding your DNA is just the start; what happens next when DNA is transcribed into RNA, made into proteins and starts acting on levels of key molecules in the body is just as important. The study of all these different components is the work of ‘omics research.

Transcriptomics: All about RNA

The full genome has six billion DNA base pairs, but only about 80% of that is copied into RNA, the ‘working copy’ of genetic information stored in the genome. About 3% of that RNA is then further converted (translated) into proteins—more on them later. The remaining 97% of the transcriptome is called non-coding RNA. While they don’t result in proteins, non-coding RNA nonetheless plays an important role in switching genes on and off.

Proteomics: Information in Action

With proteins as with life, timing and location are everything. The right protein produced in the wrong part of the body can sometimes have disastrous effects, including cancer. To orchestrate the millions of proteins in a single cell, proteins can be modified or activated by attaching and removing sugars or chemical groups known as phosphates. Proteomics is the study of the when, where and how proteins are produced, modified and localised, as well as how they interact with each other.

Metabolomics: Counting Calories, and More!

As patients with diabetes know, keeping the level of glucose in your blood steady can make the difference between life and death. But glucose is just one of many metabolites, small molecules produced and used by your body. The metabolome—the sum total of all the metabolites in a cell, tissue, organ or bodily fluid—gives a snapshot of a person’s health and can be influenced by external cues like lifestyle factors, age and ethnicity.

‘Omics and Precision Medicine

Complex diseases like cancer are rarely traced back to a single mutation, but arise from multiple alterations in DNA, RNA, proteins and metabolites. With ‘omics approaches, precision medicine tackles health from these distinct yet interacting layers. This way, scientists target the right components in developing effective diagnostic tools and treatments against diseases.