The study of genomics is ultimately the study of ourselves
Our genome is a complete set of our genetic material, a copy of which is nestled in each cell in our body. Professor Naomi Wray shares how every aspect of us – from our height, to our eye colour, to our propensity for heart disease, even our choice of mate – is influenced to some degree by this microscopic material.
Our billion-year story
Our genome not only gives us insight into how we can have a better future, it also contains the story of our past. In every cell in our body is a copy of the history of our species, stretching back billions of years to the very first single – cell organism from which we are descended. By comparing genomes across different species, researchers can see where humans fit into the tree of life, uncover how we are related to other species and decipher the genetic changes that led to new branches on the tree, such as the evolution of mammals.
The blueprint of life
DNA serves as an instruction manual for how to build and operate a human and drives the changes that take us from a helpless baby to a fully-grown adult capable of scaling mountains, or developing complex algorithms to analyse our DNA. A key fundamental question we can address by studying genomics is why some people succumb to disease and others don’t. By comparing the differences between people, we can pinpoint the genetic variations associated with traits, which provides a strong starting point for more research.
All diseases involve genetics
Genetic factors contribute to 19 of the top 20 causes of death in Australia. The ostensible exception is death by accident, but even this can be debated, as your genes influence your personality, which can increase an individual’s likelihood of risk-taking behaviour that may lead to an accident. All the others – including heart disease, dementia, cancers, diabetes – have a clear genetic component. Genetics also plays a role in infectious diseases, as was apparent during the COVID–19 pandemic, and the diseases and disorders that reduce the length of your life, such as psychiatric and neurological disorders. This means there is a lottery amongst children on who will be affected by a disease and who will not.
Clues to a better future
One of the ultimate goals of genomics is to contribute to the development of personalised or precision medicine, where prediction, prevention and treatment of disease are based on an individual’s genome. DNA data allows a more accurate prediction of who is likely to get a disease, meaning people can be triaged into screening programs and raise the odds of preventing the onset of disease, which is better for both individuals and society as a whole.
Genetic research also allows us to answer questions such as why does a disease progress slowly in some people, and more quickly in others. Why do some people respond to treatment and others do not? Many promising drugs have failed in clinical trials because variable responses are reported between individuals. Can we use genetic information to work out which people are likely to respond to a particular medicine and make treatment decisions accordingly?
Who wouldn’t be fascinated by these tiny molecules that have shaped us and our world?
