Chiara Braconi, an oncologist from Glasgow, was frustrated that her patients who were suffering an aggressive form of liver cancer could not secure the level of genetic screening available in the rest of the UK and most of Europe.
So she found an alternative way of getting them tested: by having them sign up to a research trial. As part of the trial, which was investigating cholangiocarcinoma, the increasingly common bile duct disease, patients’ tumours were genetically tested and the results were then used to match them up to the latest drugs available in Scotland.
“This is not something that is sustainable,” Braconi said. “We can’t just use research funds for providing a service. It really highlights the heterogeneity of access, because, you know, my west Scotland cancer patients, they had access, but if you move in to Edinburgh, you don’t get that. Or if you go in to Aberdeen, you don’t get that. So, I mean, this is not something that is sustainable and should really be changed.”
About 200 cases of cholangiocarcinoma are diagnosed in Scotland annually and the survival rates are among the worst for any form of cancer: most patients die within a year. However, full molecular screening of patients can match 40 per cent with new drug treatments that have been shown to extend lives by six months more than standard chemotherapy.
Braconi said there were patients who had lived ten months longer and she had one still thriving after a year. “We already have proven evidence that those drugs could make their [a patient’s] life better,” she said, adding that unless they paid for private tests, patients in other parts of Scotland would “miss out on potentially life-extending drugs”.
Benjamin Carey, 56, a tourism consultant who lives in Edinburgh, was diagnosed in 2023 but not offered a genetic test. He has since attended events for sufferers around the world.
He said: “At one international conference in North America earlier this year, I was particularly struck that I was the only patient — out of more than 50 — that didn’t have access to genomic testing. I know that there is often a bit of a postcode lottery in the UK, but I was shocked that Scottish patients were so disadvantaged compared to cholangiocarcinoma patients in so many other countries with advanced healthcare systems.
“Whilst NHS England tests cholangiocarcinoma patients for dozens of targetable mutations, NHS Scotland only tests for two, one of which is being funded by a pharmaceutical company. Without access to testing, cholangiocarcinoma patients in Scotland are missing out on effective treatments and are dying prematurely.”
He noted that Ben Macpherson, an SNP MSP, had been raising the matter for more than a year without success. Carey said: “The reply has always been that this will be addressed ‘as soon as possible’. In the past year, half of Scottish patients with a cholangiocarcinoma diagnosis will have died. How much longer must we wait?”
Ben Macpherson and Carey
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Paul Howard, head of policy at the charity AMMF, which supports cholangiocarcinoma patients, said Braconi had helped sufferers access treatments that could give them more time with their loved ones but that it was heartbreaking that others with the same diagnosis were missing out.
Howard said: “Professor Braconi has helped many cholangiocarcinoma patients in the west of Scotland access the tests and targeted treatments that have the potential to extend life and give more time with loved ones.
“However, this trial will soon close and patients in the rest of Scotland have not had the same opportunities. Some people with cholangiocarcinoma in Scotland pay privately for molecular profiling tests, but should that be unaffordable they may miss an opportunity to receive new treatments which can be better tolerated and could extend their lives.
“This cancer is increasingly being diagnosed in people in their thirties, fourties and fifties who may have children and extensive future plans. Extra time is so precious, and it is heart-breaking to hear about people missing this due to insufficient funds or information when these tests are provided routinely outside Scotland.”
A Scottish government spokesman said: “While some genomic testing for cholangiocarcinoma is currently available through the Scottish test directory, we acknowledge the need to expand testing further. We are working with NHS National Service Division and the NHS laboratory service to implement expansion as soon as possible.”