TRANSCRIPT
"I was very much on death door during my cancer treatment when I was at a very rare cancer. And there was no playbook, there was nothing to treat it with. So it got to the point where, well, this isn't working, so what can we do or what treatments can we find? And that led us to finding precision targeted oncology through DNA sequencing."
That's Matthew Webster, a 34-year-old engineer from Newcastle, who has had his life changed due to targeted cancer treatments.
Mr Webster was diagnosed with a rare cancer called Angiomatoid Fibrous Histiocytoma at the age of 24.
These rare cancers make up one in five cancer deaths in Australia.
He went through surgery, chemotherapy and other conventional treatments before he learned of the field of personalised or precision medicine, which uses an understanding of a person's DNA and genome to tailor treatments.
Mr Webster initially travelled to Germany for the treatment which was not available in Australia, but he was then able to access treatment back home through Professor David Thomas who founded the not-for-profit genomics organisation Omico.
He says the early results were astounding.
"I had palpable tumours beneath the skin, so it feels like a golf ball kind of hiding underneath the skin is what you can feel like. And within two weeks of that first treatment, you just couldn't feel the tumor anymore. And that's remarkable just to know that how dangerous and scary cancer is, and then you have something disappear within two weeks is just incredible."
Professor David Thomas now serves as Omico's chief science and strategy officer, while working as the director of the Centre of Molecular Oncology at the University of New South Wales.
He says his organisation's groundbreaking work has been focused at offering genomic profiling to those with advanced and incurable stages of cancer, with the aim of figuring out targeted therapies.
"The objectives of Omico are to create a national infrastructure that enables Australian cancer patients access to genomic technologies. We have offered these technologies as part of our research initiatives to more than 15,000 Australians with advanced cancers, cancers that are incurable. And we've put more than one in 10 of those patients onto targeted therapies as a consequence."
He says the science is advancing rapidly - which has improved survival rates for Australians with rare and more aggressive forms of cancer.
"When we do our screening today about a little over one in three of the cancer patients that we screen, we identify a target that could double their survival. So that gives you an idea about the potential impact 20 years ago that these treatments weren't available at all. And even five years ago, I was quoting a one in 20 chance of getting a benefit. I think we're seeing this field move forward very fast."
Matthew Webster says his life has been completely changed due to the treatment.
"My last treatment was in 2017, I'm on routine scanning now, and ever since that routine scanning since 2017, nothing has come back. I've had no more medical treatments. My first baby is going to be due to be born this month. So in terms of the turnaround in lifestyle, as I said, I was on death's door; and I've come back to working full-time. It's the story that you want everybody to have."
Professor David Thomas advises cancer patients interested in the treatment to ask their doctor about access to genomic profiling, which remains an emerging technology in Australia.
"Genomic profiling - or molecular profiling of cancers - is really fundamental to finding which patients are likely to benefit from these emerging therapies. So ask your doctor about getting access to genomic profiling of your cancer, if you're in that situation. And also ask about clinical trials and new therapies. I think the future is very bright for cancer and we'll see even more advances in the coming years."
Meanwhile, new research into our DNA has revealed potential connections between a variety of cancers that could pave the way for therapies targeting all forms of the disease, of which there are more than 200 types.
A new report from the Garvan Institute of Medical Research in Sydney has found that an area of the human genome that was previously known as 'junk' D-N-A may provide answers to the drivers behind cancer.
Dr Amanda Khoury is a postdoctoral researcher at the Garvan Institute; and a co-author of the new study (published in the journal Nucleic Acids Research).
She says there are parts of our D-N-A called binding sites that can be disrupted by cancer.
"We are looking at a part of the genome that's previously been difficult to sort of know the function of. So only two per cent of our genome produces protein coding in genes, and the rest of it is non-coding, so the function of it is a bit mysterious. What we found here is these binding sites for a protein called CTCF, which show a mutational pattern in cancer that seems to be shared across multiple different cancer types."
The pattern the team has identified may contribute to the formation and progression of at least 12 different cancers, including prostate, breast and colorectal.
The driving forces behind cancer, which is the breakdown of healthy cell processes, have long been a mystery for many forms of the disease.
Dr Khoury says their new research gives insight into how the DNA changes unfold.
"The binding sites in the human genome, they are normally bound to allow that healthy structure to be made. So what we're finding is that in cancer, those sites are mutated, which means the protein can't bind and therefore that 3D structure becomes disrupted. It's uncovering a new pathway that has previously not been looked at."
The researchers are hopeful that the research may lead to the development of new therapies that can target universal features of all these forms of cancer.
Dr Khoury says it's still early days for their research, but she is looking forward to what comes next.
"It's still very early days. This is a really interesting observation to make, but it will take decades before we can actually exploit this because we need to now go into the lab, do the experiments to show, when these mutations happen, how do they actually promote cancer growth? Yeah, it's just the excitement of finding a new pathway."
