Phenomics
Published by
Australian Academy
of Science
KEY TEXT
Biology meets industry – genomics, proteomics, phenomics
This topic is sponsored by the Australian Proteome Analysis Facility and the Australian Phenomics Facility.
The entry of information technology and robotics into the biology laboratory is opening the door to new ways of studying cell biology – the 'omics.
You will get more from this topic if you have mastered the basics of DNA and genes – these links will take you to an annotated list of sites with helpful background information.
'Omics is a general term used to describe a rapidly growing family of biological sciences – the most famous member of which is genomics. Genomics is the study of a genome (the total genetic material of an individual or species), rather than the study of an individual gene. For most of the last decade, genomics, and especially the Human Genome Project, have never been far from the headlines. However, even before the announcement in February 2001 that the sequencing of the human genome had been completed, the principles and technologies which had enabled this impressive achievement were being turned to the study of other areas of cell biology.
What are the 'omics?
Related site: Brush up on your 'omics'
Short article describing some common 'omics'.
(American Chemical Society)
In biology, the suffix -omics generally refers to the study of a complete group or system of biomolecules. Just as genomics is the study of an organism's genome, proteomics is the study of an organism's entire complement of proteins. Phenomics is the name given to the science which attempts to integrate the information provided by all these areas of study into a holistic picture of the complete organism – its phenotype. As researchers focus on more and different groups of molecules, more 'omics will become part of the biological language.Industry enters the lab
The emergence of the 'omics has been made possible by advances in information technology and robotics. These technological improvements have allowed researchers to automate processes which previously had to be carried out by hand on the laboratory bench. Rather than studying one gene or protein at a time, this high-speed assembly-line approach permits huge amounts of data to be collected and stored in databases, to be analysed later. For example, the mapping of the human genome means we now have the DNA sequence of every human gene – however, we don't yet know what each gene does. It's analogous to having a map without all the place names on it. Now the race is on to uncover which proteins each gene codes for and what these proteins all do.
Proteomics – the next big thing
While the genome may be the blueprint for an organism, proteins are the structural and functional molecules required by virtually all life processes. Therefore, to truly understand how an organism functions we need to understand more than just its genome – we need to understand the proteome and all the other 'omes' as well. For this reason, proteomics is one of the fastest-growing areas of biological research now that the human genome has been mapped. However, unveiling the proteome is not as straightforward as it might appear. Some of the challenges faced by proteome researchers are outlined in Box 1: Unveiling the proteome.
Australia has a strong history in proteomics research – Australians pioneered the science, and the term itself was even coined by researchers at Macquarie University in Sydney. While researchers in many other countries were focused on the genome, a number of Australian groups were concentrating on the fledgling science of the proteome.
A new frontier in medicine
Understanding what all the proteins in the body are and precisely what they do will give researchers a powerful new tool for diagnosis and treatment of disease. Many diseases are a result of defective genes, which create defective proteins (or no protein at all) that go on to cause problems for the organism. By being able to pinpoint the source of the disease, new treatments can be designed which precisely address the cause. For instance, treatments might be designed to specifically target the area of an abnormal protein which is causing dysfunction. Or, where insufficient production of an essential protein is the cause, artificially produced versions of the identified protein might be used to treat the illness – just as the protein insulin is used to treat diabetes.
Australian innovations in the field are already being utilised in pharmaceuticals and agricultural products – the anti-arthritis drug Remicade, for example, is based on a specific antibody patented by the Australian company Peptech (Box 2: Case study – Remicade and Glivec).
The 'omics also raise the prospect of personalised or targeted medicine – where the specific markers which distinguish an individual's disease can be identified and a treatment created to correct it. Because of the focused nature of this approach, adverse side effects can be reduced and treatment effectiveness improved. An example of this kind of targeted medicine is the anti-cancer drug Glivec (Box 2: Case study – Remicade and Glivec).
Another aspect of personalised medicine is the potential to identify the specific gene variations a patient carries and using the knowledge to prescribe drugs known to be safe and effective for someone with their genotype. Currently, adverse drug responses occur in a significant proportion of patients, and determining the most effective pharmaceutical for an individual involves a lot of trial and error. This same technology could be used to predict a person's risk of suffering from diseases with a genetic component, such as heart disease or cancer, in a much more precise way than current predictive methods.
Ethical ramifications and other problems
Despite all the potential benefits, there are also some serious social issues that will emerge as a result of this new technology. For example, the ability to accurately predict a person's individual risk of disease with an easy genetic test raises the prospect of health insurance companies insisting on such tests before issuing a policy – and even refusing to cover those who have a heightened genetic risk for say, heart disease or breast cancer.
Another problem is that personalised medicine and targeted drug treatments are currently very expensive. Many patients will be unable to afford such treatments on their own, and governments are already faced with difficult choices about which life-saving or life-improving drugs they can afford to subsidise.
With many more such treatments on the horizon – and with a Pharmaceutical Benefits Scheme that is costing Australia nearly $5 billion dollars a year – the issue of which new treatments the government can afford to subsidise will only grow in importance.
Boxes
2. Case study – Remicade and Glivec
Related Nova topic:
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Posted July 2004.