With a glint of nostalgia in his eye, Professor Scott laments the early days of genomic sequencing.
“It was laborious, it was time-consuming – nothing was automated, but it was very fulfilling when you found a genetic change that could be used to help someone.” Professor Scott said.
“Nowadays, it’s very much more automated and comes much, much quicker. The level of anticipation is no longer there due to the increased frequency in the identification of genetic change .”
Having developed a facility to test for genetic predispositions to breast and bowel cancer in Switzerland, Professor Scott came to Newcastle in 1997 to get a similar program off the ground.
While Newcastle wasn’t on his radar as a medical research hotspot, Professor Scott knew another colleague from London who was moving to the area at a similar time.
“I thought if the two of us came here we could probably knock this state into shape with respect to inherited predispositions to breast cancer and bowel cancer,” he said.
“I was around before HMRI came to fruition.
Professor Rodney Scott doing genomic sequencing in 1998 and using the NovaSeq6000 in 2023.
“I was actually offered the directorship of it right at the beginning and I turned it down because I thought I hadn’t been here long enough and I wanted to do a bit more research first.”
Throughout the 1990s, the field of genomics was undergoing one of the most significant scientific feats in human history - the Human Genome Project. By 2003, scientists in the United States had produced a genome sequence of one person, which accounted for 90% of the entire human genome.
Professor Scott said this development was game-changing.
“We didn’t know how many genes were going to be encoded in the genome,” he said.
“We didn’t realize that less than 2% of the human genome codes for the proteins that make us. We still don’t know what the majority of the remaining 98% does.”
Despite his appreciation for the early days, Professor Scott praises the positive impact technological advancements have had in his field.
Since HMRI started in 1998, genomic sequencing technologies have advanced at a breakneck pace and allowed for much more widespread testing. Being a member of HMRI was significant as it allowed genomic research to remain at the forefront of technology and delivering back to the community.
“Using the older technologies, we could screen about 300 people a year,” Professor Scott said.
“When Next-Gen sequencing first came along, we could screen 3000 to 6000 people a year. As of a couple of years ago we could, if we had the sample throughput, raise this to 20 to 30,000 people per year.
“The overall cost of screening has dropped significantly. Suddenly, instead of doing 300 a year at $2000 each, you can now screen 3000 people for the same amount of money.”
This broad scope of cost-effective testing means there is a change occurring in cancer screening. Rather than focusing on individuals with a family history of cancer, such as breast cancer, Professor Scott says screening is starting to look at individuals who may not know they are at risk.
“It turns out, there are quite a few women out there who don’t have a family history of breast cancer but they carry genetic variants in these genes,” he said.
“If you can test for these genetic changes you can actually offer them better therapy. So the patients’ disease is managed much more effectively or, for want of a better term, is considered cured and that’s highly significant.”
The jewel in Professor Scott’s genomic sequencing crown these days is the roughly $1.5 million NovaSeq6000.
“It looks like a giant washing machine and in one way you could say that it is. It’s loaded up with fluidics and electronic detectors.”
One of, if not THE first of its kind in Australia, Professor Scott says the machine is part of a broader move away from thinking about cancer in terms of its site of origin rather the molecular characteristics.
“What we are looking at now is a paradigm shift, where we are moving away from the site of origin and focusing much more on the molecular features of that tumour,” he said.
“This means that new therapies aren’t necessarily going to be specific to a tumour type but all tumour types that carry that mutational picture.
“This opens up the door for better, more targeted treatments.”
As well as his role with the University of Newcastle, Professor Scott is Director of Molecular Medicine and Pathology with the Hunter New England Local Health District. By holding these two roles, he has been able to bring together research and health impacts.
This, he says, is HMRI’s primary function.
Professor Rodney Scott and his $1.5 million “washing machine”.
“We are lucky here that we have pockets of expertise that are not easily recapitulated elsewhere. That gives us an edge due to the focus it creates,” he said.
“HMRI can make a huge difference by ensuring research is not just tagged onto something. It should be integral to health care. And HMRI has achieved this thanks to its structure and position within the research and healthcare environments.
“One thing you really notice about Australian research and healthcare vision is that it has been fractured for too long. HMRI, being located where it is, has actually helped, in no insignificant way, to heal that fracture.
