Brain cancer patient's tumour growth halted after immunotherapy identified by molecular testing

When Emma Sinclair was diagnosed with stage-three brain cancer in 2020, she was told she had between five and 15 years to live.

Traditional treatments, like chemotherapy and radiation, had little to no effect on her tumour, called pilocytic astrocytoma Grade3, so doctors went looking for a "needle in a haystack" to see if they could outsmart the 37-year-old's cancer.

They found what they were searching for.

"They were looking for a particular protein ... which they were trying to inhibit so that the immune system could then start attacking the tumour," Emma's mother, Toni Edwards said.

Emma, who lives at Forbes in central western New South Wales, has been on intravenous immunotherapy for more than a year, which she has accessed through a clinical trial.

Toni Edwards and her daughter, Emma Sinclair, whose brain tumour did not respond to chemotherapy and radiation. (Supplied: Emma Sinclair)

"It's a relief [but] I keep expecting the worst to happen," Emma said.

"We didn't expect miracles ... but to stop it growing has been such a relief because it's been over 12 months that she hasn't got any worse," Toni said.

Rob Zielinski, who is head of oncology and clinical trials at Orange Health Service said Emma was one of his success stories.

"She's doing sensationally well and her cancer hasn't progressed," Dr Zielinski said.

"(I) always just try and temper it and you don't make it sound like you found the cure, but it's always a very warm feeling that you've found something that's going to change that person's life in a meaningful manner by buying them significant time."

Tumour halted

The breakthrough for Emma came after undergoing what is known as Comprehensive Genomic Profiling (CGP).

CGP involves testing a patient's biopsy at a molecular level, known as genomic profiling, to try to identify what is 'driving' their cancer.

If this particular mutation is discovered, clinicians can then try to pinpoint a specific drug or clinical trial that targets that cancer.

In 2018, not-for-profit organisation Omico, was established to create a national oncology screening program offering free genomic profiling.

It was founded by director of the Centre of Molecular Oncology at the University of New South Wales, David Thomas.

"With this information about what makes a cancer tick, companies have been able to develop drugs which are very specific to the changes inside cancer cells," Professor Thomas said.

"What that means is that those treatments work on the cancer but they tend to have, in general, fewer side effects."

Tests identify treatment

When a doctor refers a patient to Omico, the sample of the original biopsy is sent to a laboratory for genomic testing and the results are examined by a team of medical oncologists, pathologists and bioinformatics to work out what treatments may be available.

Rob Zielinski would like to see this testing become "embedded into cancer care in Australia". (Supplied: Dr Rob Zielinski)

"In 85 per cent of the occasions that we get a test like that, we are able to make a recommendation for a treatment," Professor Thomas said.

He said the genomic testing had extended the life of some patients with a notoriously challenging type of cancer.

Professor David Thomas founded precision oncology not-for-profit, Omico. (Supplied: Professor David Thomas)

"In our program of patients with pancreatic cancer, typically most of them will have passed away within 14 months if they don't receive a match therapy, but the group that received a match therapy, one in five of them are alive past five years."

Omico's program has mostly targeted patients with incurable or less survivable cancers, but Professor Thomas said they were only screening around one-third of those who needed the test.

He said he would like to see it become a standard part of Australia's cancer care.

"Cancer, which we've lived with forever as an ancient curse on mankind, is at a cusp where science could do for cancer what science did for HIV and COVID," Professor Thomas said.

Improving access

The majority of Omico's patients, who are recommended for a type of treatment, access these medications through clinical trials.

Dr Zielinski said Omico's work meant rural and regional patients could access these types of treatments, but more work was needed to ensure clinical trials could be run outside of the capital cities.

"I've got stacks of rural patients who are either too symptomatic, too much pain, too elderly to travel back and forth [to cities to access the] trials," he said.

"The tragedy of this program is, if we find what I think is going to really extend your life and you just can't get on to it, it's too difficult, the logistics are too hard."

Professor David Thomas says the testing can help extend the lives of people with the most challenging types of cancer to treat. (Supplied: Professor David Thomas )

Professor Thomas said Omico was working with the federal government to discuss how to embed the testing into cancer care.

In March, the federal Health Minister Mark Butler announced $30.8 million for Omico's program, but Professor Thomas said more funding was needed.

"I would like to see this available for all cancer patients, certainly all incurable cancer patients as an urgent matter, because we now have the drugs which can extend people's lives," he said.

In a statement, Minister Butler said Australia was at the "precipice of transforming the potential of genomics into concrete improvements" in cancer care.

"The government is also establishing Genomics Australia to provide leadership, coordination and expertise so all Australians can reap the benefits of cutting-edge genomic research and technologies," he said.

"One of Genomics Australia's first priorities will be to improve access to personalised cancer care. Its focus will be on turning significant breakthroughs in genomic research into the everyday care that patients receive."

Written by: Joanna Woodburn, ABC News.