From a National Human Genome Project to Early Screening

How Can Australia Lead the Way in the Fast Growing Field of Genomics?

By Benjamin Musrie, Medical Researcher. Sydney, Australia.

Source: Illustration by Henris Kas, included with permission

You’ve most likely heard the term ‘genetics’, but what about ‘genomics’? Maybe you use them interchangeably. While this is common, these terms are not synonyms. Both study genetic material and both are derived from the Greek work gen, but the similarities largely end there. Genetics is the study of heredity, or how the characteristics of living organisms are transmitted from one generation to the next. It focuses on single genes that have a known function. Genomics, on the other hand, studies the entirety of an organism’s genes — some with functions and others without — known as the genome.
A complete human genome contains three billion base pairs of DNA that include all the information needed to build and maintain an organism throughout its life. Uncovering the genome provides crucial insights into how our bodies work and what happens when we get sick.

Genomics has become one of the quickest growing areas of biomedical research as researchers have realised the value of studying the human genome, especially in relation to disease. It is widely understood that almost every human ailment has some sort of genetic basis. Until recently, researchers only considered the study of genes in cases of birth defects and a limited set of other diseases such as sickle cell disease and fragile X syndrome — diseases caused by a mutation in a single gene found on chromosome 11 and X, respectively. However, we are now beginning to understand that a variety of intricate and complex diseases such as cancer, diabetes, and cardiovascular disease, which are the most prevalent health problems in the world, may be better understood, prevented, and treated via genomics.

This was the reasoning behind the Human Genome Project (HGP). The HGP was an international scientific research project with the goal to map the entire human genome. The project was one of the greatest feats in scientific history, costing approximately $3 billion USD. Beginning in October 1990 and completed in April 2003, the HGP gave us the ability, for the first time, to read nature’s complete genetic blueprint for…