How the 'world's largest cancer platform' could lead to better outcomes for patients

ITV News Science Editor Deborah Cohen explains what the platform is - and how it could help people in the future

When Kate Grafton was diagnosed with incurable breast cancer aged 35 she was told she had around 18 months to live. “At the time of my diagnosis of breast cancer, my cancer had already spread to my bones. My liver, my lungs, and my brain, which was a really devastating diagnosis at the time,” she told ITV News. “A nurse told me to write my will, to make a bucket list, to leave work and to enjoy the short amount of time that I had left.” That was 10 years ago.

Kate Grafton: 'I now have a list of drugs that will work for me in the future'

At the time of her diagnosis, there were few treatments available for her particular kind of cancer.

So when her oncologist said she could join a project to have her complete set of DNA (called a genome) examined she thought it might not help her but would help others. “It would certainly help other women and other patients with cancer to have better drugs to have more choice to have hope for their life. It was exciting,” she said.

Since volunteering, her genetic data has already been put to good use and used to develop a test. “We now do a really simple blood test where we can see whether the chemotherapy that you might go on is going to work for you, but also whether you're going to get really nasty side effects or not.

"And that's really important because chemotherapy is hard on the body. It can lead to some really distressing side effects,” she said. And despite her initial doubts about the direct benefit to herself, Kate said she also has a list of drugs that might work for her in the future. “When my chemotherapy stops working - and it will stop working at some point, I'm under no illusions that it won't - I have maybe four other options that I can have because of my genetic coding saying that these drugs will work for me,” she says. Kate had her genome analysed by scientists working for Genomics England, a project to sequence and study the role our genes play in health and disease.

Sue Hill, England's chief scientific officer, said the insights will lead to targeted treatment

Our genome is a molecular set of instructions which determines everything about who we are. It is written in a chemical code called DNA. In cancer, tumour cells have developed a different genome to the healthy cells, so comparing the two might give insights into what’s happened. On Wednesday, Genomics England launched what it described as the “world’s largest cancer platform”.

It will contain large sets of health data from different specialties in medicine - such as genomics, pathology and radiology (like MRI scans - that scientists will be able to analyse at scale to identify new features of cancer.

This may help to identify risks; more targeted current treatments; potential for access to appropriate clinical trials; and more accurate prognosis.

A genome is a molecular set of instructions which determines everything about who we are.

Prof Dame Sue Hill, chief scientific officer for England and the senior responsible officer for NHS Genomics, told ITV News that insights gained from patients in the NHS will be fed back into the NHS.

“It means that individuals when they've got cancer or rare disease they can have more targeted treatment, and that targeted treatment usually will lead to a better outcome. But importantly, for the NHS, it's moving us towards preventive or preemptive healthcare,” she said.

But as is often the case with medicine, there’s some concern that what is new and exciting might trump essential routine practice and care. While the prospect of having simple genomic tests at hand is something many scientists are excited about, testing needs to be accurate.

It needs well qualified people to analyse the tests; support those with diagnoses; and provide treatment if, of course, it’s available. And this all requires funding.

It's important the initiative does not disrupt the NHS' other cancer services, Professor Frances Flinter says

Professor Frances Flinter, a clinical geneticist and member of the Nuffield Council of Bioethics said the initiative is really exciting. But says there are broader considerations. She said: "It's important that patients who enroll in this understand that the information generated from sequencing a genome could have additional implications to them in terms of identifying risk of other tumours elsewhere in their body, and could also have implications for their relatives who may be found to be at risk.

"But as long as the infrastructure is in place to deal with all those issues, then I think this is a really exciting project,” she adds. We’ll undoubtedly hear more about genomic medicine in years to come. It’s already benefited Kate and may well help many more. But it will need careful handling.