DNA blood test could benefit thousands of patients

When his health deteriorated last winter, Phillip Marks doubted he would ever play another round of golf, let alone see his 62nd birthday.

“They all thought I was going to kick the bucket, but I won the sweepstake down the golf club.”

Mr Marks, from Penarth, Vale of Glamorgan, is one of thousands of people with lung cancer who is likely to benefit from a new diagnostic blood test being rolled out across Wales.

The test checks for cancer DNA which means a quicker diagnosis and better treatment options for patients.

Lung cancer is often diagnosed in the latter stages and is the leading cause of cancer deaths in the UK and is also more prevalent in disadvantaged communities.

About 1,900 people in Wales die from the disease every year.

“I couldn’t eat, I said to my partner ‘take me to hospital otherwise I’m not going to be here next week’, that’s how bad I felt,” said Mr Marks.

Mr Marks had already been told he had incurable lung cancer but doctors were struggling to find out its exact type and decide on the best form of treatment.

That was until the results of the new blood test came through and showed he might respond well to two tablets.

Mr Marks said there was an immediate difference.

“From not being able to eat half a plate of pasta, I woke up on Sunday morning and my partner asked me what I wanted to do, and I said to her ‘how about a carvery?’ She just burst into tears.

“I’ve had six months of what I can sunshine and roses with my son, granddaughter, mum, dad, brothers and sisters,” he said.

Usually doctors try to find out more about someone’s condition by extracting tumour cells from the body.

But these biopsies can be very invasive and doctors may also struggle to get a sample.

As cancer cells grow and multiply they shed tiny fragments of their DNA into the bloodstream.

The “liquid biopsy” is a simple blood test that looks for these.

Samples are analysed to build a picture of the cancer’s genetic code which can help determine the best course of treatment.

It can also be used to monitor how well treatment is working.

“It’s not only important to know whether or not there’s actually cancer there and what stage it is, it’s important to know what biomarker this cancer has because there could initially be more than 10 treatment options,” said Dr Magdelena Meissner, chief investigator of the QuicDNA study.

“This [test] means as soon as someone is diagnosed they can start treatment with a targeted therapy.”

Craig Maxwell’s fundraising efforts have helped to rollout the test.

Shortly before his 40th birthday, doctors found a tumour in his lung but as it was so low down they struggled to get a sample.

It took almost three months for Mr Maxwell, from Penarth, to find out he had inoperable stage 4 non-smoking lung and bone cancer.

“We had to wait 78 days for diagnosis and you’ve got limited time left…

“If somebody said to me ‘here’s 50 days back to spend with my family’ – I would give anything for those 50 days back,” said Mr Maxwell.

Determined to help others, the former commercial director of rugby for the Six Nations and Welsh Rugby Union asked experts what could be done to help speed up diagnosis and that was when he learnt about the QuicDNA project.

Some money had already been raised for the project which is run by the Life Sciences Wales Hub as well as other health and industry partners, but a further £300,000 was needed to get it off the ground.

Mr Maxwell said: “I was making videos for my children, for their birthdays and weddings – all that stuff I will miss, but was thinking in the time I’ve got this is not enough.”

He managed to raise the money needed, surpassing the target by raising almost £1.5m

“All I’ve done is run, cycle and climb mountains.

“But if that means that somebody like me walked into the hospital tomorrow and there was a test that could help them, and if I’ve been a small part of that, that would be the proudest thing I’ve ever achieved.”

The extra funding will help experts explore how liquid biopsies might be used to detect and screen for other cancers.

But experts warn huge challenges remain.

Cancer survival rates in Wales and across the UK lag behind many developed countries.

Prof Tom Crosby, clinic director of cancer in Wales said: “Patients are waiting too long from the point of time when they are told they may have cancer to actually starting their first treatment.

“The demand is outstripping the capacity we have that’s mostly about the workforce and the machines… and we need more of those, but we also need to do more with what we have.”

Prof Crosby added that the new test was a positive step that could help Wales “get ahead of the game” and offer hope to many.