Genetic research in the Hunter is helping prevent and reduce disease

This promising field of science has the potential to reduce needless human suffering and prevent disease.

Professor Rodney Scott is working on these lofty goals at the Hunter Medical Research Institute  [HMRI] and University of Newcastle.

“The aim is to provide the right diagnosis at the right time for the right person,” said Professor Scott, a co-founder of the Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine. 

“For the first time in the history of medicine, we’re at the forefront of doing that. The research aims to maximise the value of this approach to medical care.”

Professor Scott’s genetic research is examining diseases like bowel, breast and ovarian cancer, melanoma, multiple sclerosis and schizophrenia.

This research involves analysing genes to determine people’s risk of being afflicted with such diseases.

It’s also aimed at identifying people most likely to develop recurrent disease.

Such information can be used to prescribe measures to prevent and reduce the risk of disease.

And if a person begins to develop such a disease, this data can point the way to early treatment, boosting the prospects of survival and cure rates.

It’s a medical field known as “precision medicine” or “personalised medicine”.

The concept involves targeting specific treatments, medicines and therapies to individuals based on their genetic make-up.

Up until recently, the ability to identify the differences between people’s reaction to particular medications had been limited.

Science has now reached the point – in a field known as pharmacogenomics – where the expected response of individuals to specific drugs can be identified.

“In any given population, there are going to be responders, non-responders and adverse responders to drugs and treatments.”

He said precision medicine was “marching forward”, particularly with the progress of supercomputers.

“With the development of technologies and the ability to crunch large amounts of data, it’s becoming increasingly efficient,” he said. 

“The expectation is that within a few years, we will be able to do this efficiently and ensure better outcomes for patients diagnosed with cancer, or indeed, any other disease.”

Professor Scott said the alleviation of suffering was the aim, not immortality.

“I don’t think we’re ever going to get to a point where we’ll live forever,” he said.

“What you want to do is have a healthy, productive and full life.

“If we can be healthy until the day before we die, that’s a very good life to have.”

Professor Scott said there were people now who live a long, healthy life and die in their sleep.

“You’d like that to be emulated by everybody to relieve the sorts of suffering that a lot of people end up having to go through at later stages of their lives, whether they’re 40 or 100 years of age,” he said.

Professor Scott cautioned that genetic medicine was still in its “early days”.

“It’s important to recognise that a lot of the answers just aren’t there at this point in time,” he said.

He said some diseases were associated with specific genetic variations present from conception. 

Other genetic variations acquired later in life were also associated with diseases, mainly cancer.

“But there’s a lot of other common diseases where you cannot pinpoint a single cause,” he said. 

“Trying to identify the combination of events that result in disease – that’s the challenge we’re facing at the moment,” he said.

Further research was being done to try to make sense of this complexity, including questions about the nature of genetic variations.

Some variations are not linked to diseases and disorders, but others are.

The challenge is working out which ones to remove.

Despite the challenges of genetic medicine, Professor Scott believes it will have many uses which will benefit mankind.

“Our challenge is how to introduce this disruptive technology for the benefit of everyone who requires a healthcare service,” he said.

Writing recently on The Conversation website, Monash University’s Professor Catriona McLean imagined a near future in which “precision medicine has made a difference in the lives of millions of people around the world”. 

She envisaged the year 2030 to be a time when “precision medicine has vastly improved the ability to diagnose rare inherited diseases; to diagnose and treat cancers; and to aid in diagnosis and management of infectious diseases, dementia, heart disease and diabetes, among many others”.