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Genetic testing: NHS ‘must back revolution’

BBCGenetic testing: NHS ‘must back revolution’

By James Gallagher, Health and science reporter, BBC News Jan 2012

Genetic code The cost of working out a patient’s genetic code is falling

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Putting genetic testing at the heart of the NHS could herald a “revolution” in diagnosing, treating and preventing disease, according to the government’s genetics adviser.

Prof Sir John Bell has been presenting a report on how the NHS should prepare for advances in the field.

He said missing out would come at a high cost to patients.

Health Secretary Andrew Lansley has announced plans to speed up the introduction of genetic cancer tests.

One of the problems with modern medicine is that some of the definitions of disease are too broad.

Prof Bell told the BBC: “Breast cancer has always been defined because it is a tumour in the breast.

“But if you look at the molecular detail of those cancers, some are much more similar to ovarian cancers than they are to other breast cancers, in molecular terms and in terms of their response to therapy.”

Target treatment

Cancer drugs are generally effective in fewer than one in three patients who take them, the report says.

“Innovation in any setting has to deliver a much better product or lower cost, or both, and I think genetics may be one of the things that does both”

Prof Sir John Bell Chair of Human Genomics Strategy Group

The theory is that by looking at which genes are active inside a tumour, it will be possible to pick the correct treatment.

This is already happening in some cases. Bowel cancer patients with the defective gene K-RAS do not respond to some drugs, while the breast cancer drug herceptin works only if patients have a specific mutation, HER2.

One of the driving forces behind genetics in medicine is the plummeting cost of working out a patient’s genetic code. To sequence one patient’s genome once cost millions of pounds but it now costs thousands, and Prof Bell argues that in the future, the “cost could be essentially nothing”.

Prof Bell has previously accused the NHS of being “completely unprepared” for advances in the field of genetics. He has called for ministers to develop a strategy which would see the NHS adopting genetic tools, and training current and new staff in genetics.

He also wants a national centre which could store genetic information about patients who were sequenced. It would allow doctors to compare mutations in the genetic code with other patients who had the same mutation, to help plan treatment.

“We want to make sure that all patients can benefit from these tests”

Andrew Lansley Health Secretary

Prof Bell acknowledged that reforming the healthcare system to take greater account of genetics would require investment, but he added: “Innovation in any setting has to deliver a much better product or lower cost, or both, and I think genetics may be one of the things that does both.”

More testing

The government has yet to formally respond to the recommendations. However, Mr Lansley has announced plans to develop a new way of introducing and funding genetic tests for cancer.

“We want to make sure that all patients can benefit from these tests – as soon as the tests are recommended by NICE (the National Institute for Health and Clinical Excellence),” he said.

He compared the genetic code to a treasure map, saying the Xs were starting to appear, and that the promise of the field was “immense”.

The chief medical officer for England, Prof Dame Sally Davies, said genetics was “terrifically exciting” and would have an “increasingly important role” in areas such as cancer screening.

However, she said she was “quite worried” about some of the consequences, such the possibility that telling patients they had a low risk of developing lung cancer would give them a licence to smoke.


UK Sequencing project will map DNA of up to 100,000 patients


CRUK LogoSequencing project will map DNA of up to 100,000 patients


Monday 10 December 2012 – from Cancer Research UK

The genetic data could help researchers develop drugs and tests which could help save thousands of lives

A new £100m project will map the DNA of up to 100,000 patients with cancer and other rare diseases.

The large-scale mapping initiative will take place in England over the next three to five years and is intended to lay the foundations for a revolution in NHS treatment.

The genetic data will help researchers to develop new drugs and tests that could help save thousands of lives.

Britain should “push the boundaries” and become the first country to introduce genetic sequencing to its mainstream health service, according to the prime minister David Cameron.

He said: “Britain has often led the world in scientific breakthroughs and medical innovations, from the first CT scan and test-tube baby through to decoding DNA. By unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs and above all better care.We are turning an important scientific breakthrough into a potentially life-saving reality for NHS patients across the country.”

He added: “If we get this right, we could transform how we diagnose and treat our most complex diseases not only here but across the world, while enabling our best scientists to discover the next wonder drug or breakthrough technology.”

Dr Harpal Kumar, Cancer Research UK’s chief executive, welcomed the plans: “This work will uncover a wealth of new information which doctors and scientists will use to learn more about the biology of the disease and to develop new ways to prevent, diagnose and effectively treat cancer.

“We’re very excited about personalised medicine – some targeted treatments, such as imatinib, a drug for chronic myeloid leukaemia are already helping to treat patients more effectively – and we’re working hard, with many others – to develop new treatments, and to ensure the NHS can effectively deliver a more personalised cancer treatment service.”

He added: “We hope that this vital investment, together with other measures, such as continued support to diagnose cancers earlier, when treatment is more likely to be successful, will be an important step towards saving more lives from cancer, sooner.

“But, it will be some time before everyone with the disease will be able to have treatment based on the genetic make-up of their cancer.”

The NHS already analyses single genes in cancer tests to determine the chances of particular patients having side-effects from treatment.

Professor Dame Sally Davies, the government’s chief medical officer, explained: “At the moment, these tests focus on diseases caused by changes in a single gene.

“This funding opens up the possibility of being able to look at the three billion DNA pieces in each of us so we can get a greater understanding of the complex relationship between our genes and lifestyle.”

The £100m earmarked from the project, which stems from existing NHS budgets, will be spent on training genetic scientists, mapping patients’s DNA, and creating systems for handling the information.

The Human Genome Project, which made an initial ‘rough draft’ of the human genetic sequence in 2011, cost approximately £500m.

But technological advances have cut costs dramatically, meaning the procedure can now be performed for under £1,000 per person, and officials believe the new £100m DNA mapping investment could reduce prices further still.

All patients will be asked for permission before their DNA is sequenced, with all subsequent data anonymised before it is stored.

Alongside the DNA mapping announcement, the government also allocated £100m of new science funding in the Autumn Statement to the life sciences sector.

The money will help build research capabilities for synthetic biology, facilities for manufacturing cell and biological medicines such as antibodies and vaccines.

Science minister David Willetts said: “Life sciences is one of the most truly international sectors – so if we are to continue to be a world player and compete in the global race we must do everything we can to support it.

“In the past year, our initiatives have attracted more than £1 billion of private sector investment to the UK. We can see clear evidence the UK is succeeding in creating the right environment to attract global investment to our shores and continue to be world leader in life sciences.”


Bowel screening – it’s working, but we could do even better

Yesterday, we saw more evidence that the UK’s bowel cancer screening programme is working.

According to new data from the North-East of England, published in the British Journal of Cancer, patients whose disease was spotted via screening had a better chance of beating their disease than those diagnosed after developing symptoms.

This is great news, and shows that bowel screening can make a real difference.

It comes after a Scottish study last year found that bowel cancer death rates were cut by 27 per cent among those who had attended screening compared with those who did not.

But at Cancer Research UK, we’re not ones to rest on our laurels. Although the programme spotted some cancers, it missed others.

We can do even better. And we’ve had our thinking caps on to work out what Governments need to do to make the UK nations’ bowel cancer screening programmes even more comprehensive, and save even more lives.

An overview of the status quo

The bowel cancer screening test offered in the UK uses a test called the faecal occult blood test, or FOBT. It’s done at home, and involves posting a series of stool samples off for testing. The test looks for the presence of traces of blood in the stools – which can be a sign of bowel cancer.

The test is offered every two years. But in terms of who is eligible, the devolved nations of the UK all operate slightly different screening programmes.

  • England and Wales offer screening to people aged between 60 and 74.
  • Northern Ireland screens people between 60 and 69, but plans to extend this to 70-year-olds by 2015.
  • Scotland screens people between 50 and 74.

But across all four nations, only about half of those invited to participate actually do so.

Improving the existing test


We would like to see more people participate in the programme. This means more encouragement from GPs, from awareness campaigns and from peer-groups. We need people to know about the programme, and its benefits. Given how effective we now know bowel screening is, and that bowel cancer is among the most common cancers, even a small increase in uptake could make a big difference.

Improved testing method

Researchers have invented a newer, better, simpler version of the screening test. It’s called ‘faecal immunochemical testing’, or FIT, and it doesn’t just detect whether blood is present or not, it detects the amount of blood present. This makes it more sensitive, and requires people to take fewer samples. Evidence suggests that it will also detect more cancers and pre-cancerous growths than FOBT.

It’s unlikely to be more expensive than FOBT, and evidence is emerging to suggest that introducing the FIT test will improve uptake.

So we want the UK’s governments to begin planning for a switch-over from FOBT to FIT right away.

Introducing a new test: flexi-scope

In April 2010, a landmark trial, which we helped fund, showed that a single bowel screen using a tiny camera on a flexible tube (called a flexi-scope) could both prevent and detect bowel cancer. The test not only spots cancers, it can detect and remove pre-cancerous polyps.

In October that year, Prime Minister David Cameron announced that the test would be incorporated into the NHS’s bowel screening programme in England. This would then be followed by stool testing from age 60. This could make a huge difference to bowel cancer rates in the UK.

But 18 months later, we’re still waiting for clarification over where, when and how the programme will be rolled out. So we want to see two things:

Investment in training and capacity

This is absolutely crucial – not just for flexi-scope, but for the whole screening programme, and for spotting bowel cancer early. We’ve heard from experts in the field that the UK’s endoscopy services aren’t what they could be. But the recent Be Clear On Cancer  awareness campaign increased the demand for endoscopies, as more people were referred by their GP with symptoms.

If the NHS is to properly implement flexi-scope screening as well, it needs to make sure it has a world-class endoscopy service – which means more trained and equipped endoscopists.

This is particularly true in England. Last year, the Westminster government earmarked an extra £450m, to be spent over four years, in part to improve endoscopy in the English NHS. But a recent survey by GP Magazine showed that only just over half of local health authorities were actively spending this cash. This needs to change.

Plan for roll-out

We want the Westminster government to update plans for rolling out flexi-scope in the NHS in England and to ensure everything is in place so that they can move forward with implementation. And while high quality roll-out is the top priority, we need to see the detailed plans for how things will be kept moving.

In Scotland, Wales and Northern Ireland, we want the governments to start planning for and piloting flexi-scope. Currently, flexi-scope is proposed to be carried out at age 55.  In Scotland, where screening begins at 50, the government will need to work out how to incorporate flexi-scope into their existing screening programme.

We want to stress – the  existing bowel screening programmes are a success, and we would like to urge people to take part when invited. But we can’t be complacent. As more evidence emerges, we will continue to pressure our politicians to make sure the UK public are getting the very best bowel screening.



  • Gill, M.D., Bramble, M.G., Rees, C.J., Lee, T.J.W., Bradburn, D.M. & Mills, S.J. (2012). Comparison of screen-detected and interval colorectal cancers in the Bowel Cancer Screening Programme, British Journal of Cancer, 107 (3) 421. DOI: 10.1038/bjc.2012.305


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