A quarter of cancer sufferers are being sent away by GPs with their early warning signs dismissed as minor ailments, a study reveals toTens of thousands of patients are initially told that their symptoms are ‘nothing to worry about’ or advised to take painkillers or antibiotics for months.day.

Tens of thousands of patients are initially told that their symptoms are ‘nothing to worry about’ or advised to take painkillers or antibiotics for months.

Missed disease: Thousands of cancer sufferers are forced to make repeat visits to their doctor before their symptoms are correctly identified and can be treated

They have to make repeated trips to their doctor before being given a correct diagnosis, the report concludes.

Britain has one of the lowest cancer survival rates in Europe despite billions being invested in treatment over the last decade.

Experts blame late diagnosis for the alarmingly high death rates and say many tumours are spotted only when it is too late for successful treatment.

More than half of those with rarer cancers – which comprise 50 per cent of all cases – are being forced to see their GP repeatedly before they are finally referred to a specialist.

Almost two thirds wait longer than three months between making an appointment to see their family doctor and being told that they have cancer. For many patients this delay proves fatal.

Rarer cancers comprise all forms of cancer except breast, bowel, lung and prostate, which are known as the ‘top four’.

They include kidney, thyroid and gall bladder cancer, and cancers of the blood such as myeloma, leukaemia and lymphoma. these illnesses can be difficult to diagnose as symptoms such as pain, tiredness, weight loss and lack of appetite can be explained by many other illnesses.

The study by the Rarer Cancers Foundation found that a quarter of patients are diagnosed only once the disease has already spread to other organs, by which time it is often terminal.

Last month the Coalition promised to save up to 5,000 lives a year by giving GPs the power to refer patients directly for scans and tests rather than going through a cancer specialist.

But experts warn that if family doctors do not even suspect patients have cancer, they will simply send them home reassured without asking for these tests.

RARE DISEASE DIAGNOSIS

Many Britons with genetic diseases are ‘left in the dark’ by medics, a report claims today.

Almost half of those with a so-called ‘rare diseases’ wait more than a year for diagnosis, while a further 20 per cent see at least six doctors before finding out what is wrong with them.

The delays lead to a deterioration in health, inappropriate treatment and medication and significant distress, the charity Rare Disease UK says.

A rare disease is defined as one that affects fewer than five in 10,000 of the general population.  But, while individual conditions are uncommon, together they affect 3.5million Britons – or one in 17 people at some point in their lives.

Examples include cystic fibrosis, sickle cell anaemia and muscular dystrophy.

Rare Disease UK, a coalition of more than 130 patient groups, wants research to be better funded and better co-ordinated, doctors to be better-informed of symptoms and better access to drugs, where they are available.

It also wants a national plan for the treatment of rare diseases to stress the importance of psychological support, not only for patients, but for their families too.

Dr Peter Corry, a paediatrician at St Luke’s Hospital in Bradford, said: ‘Diagnosis is often difficult and the complex treatments required may involve several specialists.‘Frontline medical staff need good sources of up-to-date information and access to the appropriate experts.’Research into the treatment of rare diseases will be showcased an open afternoon and evening at Royal Holloway, University of London today.   

Andrew Wilson, chief executive of the Rarer Cancers Foundation, said: ‘if patients are going to have the best chance of beating cancer then they need to be diagnosed as early as possible. too many opportunities to diagnose cancer are being missed, leaving patients feeling let down by their GP and the NHS.

‘The Government wants to save an additional 5,000 lives by 2014/15 and half of these should come from rarer cancers. if this goal is to be achieved, then GPs will have to raise their game. we are calling for GPs to be paid according to their performance on diagnosing cancer.’

Experts say that while GPs are very good at spotting lumps in breast of prostate cancer or recognising the symptoms of lung or bowel cancer, rarer cancers often do not have such obvious early warning signs.

Eric Low, chief executive of Myeloma UK, said: ‘they are very difficult to diagnose. we shouldn’t have a bash at GPs – we need to provide them with the resources and background information to enable them to make these diagnoses.’

Many people have told the Rarer Cancers Foundation how symptoms were misinterpreted by GPs.

One man said his wife had died of a rare cancer of the bile duct after being told by her GP to stop taking her HRT tablets.

When she returned eight months later complaining of a bad back the same doctor prescribed painkillers. less than week later she was taken to hospital and diagnosed with terminal cancer.

Another patient was told by his GP that the lump on his neck was a swollen gland. He was finally diagnosed with thyroid cancer three months later.

One woman said her mother was given a course of antibiotics after complaining of severe diarrhoea, weight loss and lack of appetite.

Her GP even appeared to chastise her for making an appointment saying: ‘There’s stuff you can buy over the counter for that.’

She saw at least three different doctors before being diagnosed with terminal cancer of the gall bladder.

Angela Skeffington, 44, died of stomach cancer after claiming her GP and ten A&E doctors missed signs of the disease. The mother of three was told she was suffering from anorexia, depression, period pain and even indigestion, and was prescribed paracetamol.

When the cancer was finally diagnosed, it had spread to her liver and lymph nodes.

Health Secretary Andrew Lansley said:‘we know that earlier diagnosis is critical to achieving better survival rates, so we’re taking action in this area where the previous government failed.’

Missed diagnosis: Mother-of-three Angela Skeffington died of stomach cancer after a GP and team A&E doctors failed to detect the disease

* A TREATMENT that causes deadly breast cancer cells to self-destruct by flooding them with a poisonous gas is being developed by British scientists.

In experiments, the gene-based therapy killed 80 per cent of breast cancer cells within two days, the International Journal of Pharmaceutics reports.

If it continues to fulfil its early promise, it could be given to women in as little as five years.

The innovative treatment is likely to be aimed at women with ‘metastatic’ cancer that has spread through the body and has stopped responding to conventional treatments.

Researcher Helen McCarthy of Queen’s University, Belfast, said: ‘For patients in this position the outcome is bleak. There is a pressing need for new and alternative therapies.’

Dr McCarthy’s research centres on inserting a gene into cancer cells.

Once inside the cells, it pumps out nitric oxide, a toxic gas that kills many of the cells outright or makes them more vulnerable to chemo and radiotherapy.

Previous research shows that flooding tumours with the poison makes them twice as sensitive to radiotherapy.

Crucially, the gene therapy method is expected to have no effect on normal healthy cells, cutting the odds of side-effects from nausea and vomiting to loss of hair.

Dr Lisa Wilde, of the Breast Cancer Campaign, which funded the research, said: ‘Gene therapy could potentially be an exciting avenue for treating breast cancer.

‘although at an early stage, Dr McCarthy’s research shows that this system for delivering toxic genes to tumour cells holds great promise.’  

ScienceDaily (Feb. 7, 2011) — An international team of researchers has made new links between 29 regions of the genome and ulcerative colitis — a common form of inflammatory bowel disease (IBD). The new findings increase the total number of genome regions known to be associated with inflammatory bowel disease to 99.

The results point to several biological processes, including the way that our bodies maintain the lining of the intestinal wall, which are likely to play an important role in the development of ulcerative colitis.

The causes of inflammatory bowel disease are not fully understood, although it is thought that patients with inflammatory bowel disease have an overactive immune response against typical gut contents. Together, ulcerative colitis and Crohn’s disease — the two primary causes of inflammatory bowel disease — affect one in 250 people in Europe, North America and Australasia.

Unlike Crohn’s disease, which can impair any part of the human digestive tract, ulcerative colitis is restricted to the large bowel. up to 20 per cent of ulcerative colitis patients will require surgery to remove the entire large bowel.

"The outcomes and quality of life for patients with ulcerative colitis can be bleak," says Dr. John Rioux, from the Montreal Heart Institute and the Université de Montréal, senior author on the paper, and co-chair of the International IBD Genetics Consortium. "to understand the genetic causes of the disease, we carried out the largest study of the disease to date — taking a magnifying glass to over one million sites in the genomes of more than 26,000 people."

"Ultimately, we hope that unmasking the genetic processes that give rise to the disease will minimise the need for surgical outcomes, by opening the door for new therapies that can stop the disease in its tracks."

"With one in 160 Canadians living with either Crohn’s disease or ulcerative colitis, we have among the highest rates of IBD in the world," says Dr. Kevin Glasgow, Chief Executive Officer of the Crohn’s and Colitis Foundation of Canada. "Given the often limited treatment options and quality of life for patients with ulcerative colitis, the Canadian IBD community welcomes this research breakthrough and looks forward to its therapeutic application."

The team carried out a genome-wide scan to look for changes in the genetic code common to patients with ulcerative colitis. they did this by looking at genetic data from more than 32,000 apparently healthy people, and more than 16,000 people suffering from ulcerative colitis.

Using the technique, the team homed in on 29 new regions that are associated with the disease — bringing the total number for ulcerative colitis to 47 and the total for inflammatory bowel disease to 99.

Like signposts, these regions pointed the researchers towards several genes that might play an important role in ulcerative colitis.

"The genomic regions we have identified give us an insight into the biology underlying ulcerative colitis," says Dr. Carl Anderson, from the Wellcome Trust Sanger Institute and first author on the paper. "These important initial discoveries are the building blocks on which we can begin to derive better IBD treatments, though much further work is needed before these become a clinical reality. "

"to give us a better understanding of IBD biology, we compared the results of this ulcerative colitis study to those of a similar study we recently completed looking at Crohn’s disease, and the results were very informative."

The team found significant overlap between the genetic regions associated with each disease, with at least 19 of the total 47 ulcerative colitis regions also associated with Crohn’s disease.

The researchers show that many of the overlapping regions include genes involved in expanding and maintaining a group of T-cells involved in our immune response. The finding supports the idea that the way our immune system responds to the natural bacteria found in the gut could be an important part of the disease profile of inflammatory bowel disease.

The researchers suggest that the candidate genes — including several key members of the ‘IL23 pathway’ — could provide good targets for researchers developing therapeutic interventions against the disease.

As well as finding genes that point towards a shared biology — the researchers also found evidence of genetic events that might be unique to ulcerative colitis.

"for many patients, ulcerative colitis means a lifetime of bloody diarrhoea and stomach pains," says Dr. John Rioux. "The disease can be very severe in some patients resulting in life-threatening inflammation of the large bowel, and there is an increased risk of developing bowel cancer. This is a really unpleasant and intrusive illness that typically affects young adults, and for which we presently have no known cure. "

"we have some good medical therapies, but for many patients these are either not effective or poorly tolerated. we therefore have an urgent unmet therapeutic need and it is my great hope that we can translate our really exciting genetic findings into effective new therapies in the next five to ten years, " said Dr. John Rioux.

The new findings open the door for further research to explore the candidate genes identified and their possible role in the development of the ulcerative colitis and inflammatory bowel disease.

About inflammatory Bowel Disease (IBD)

Inflammatory bowel disease is a term used to describe conditions that are characterised by inflammation of the gastrointestinal tract. The term IBD is used predominantly to describe two diseases: Crohn’s disease and ulcerative colitis. in Crohn’s disease, the inflammation can affect any part of the digestive tract. in ulcerative colitis, the inflammation affects only the colon. Together, ulcerative colitis and Crohn’s disease affect one in 250 people in Europe, North America and Australasia. Inflammatory bowel disease should not be mistaken for irritable bowel syndrome — a separate disease which can present some similar symptoms.

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The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by University of Montreal.

Journal Reference:

1. Anderson C A et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics, February 6, 2011 DOI: 10.1038/ng.764

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