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Persistent or recurrent abdominal pain and diarrhoea can be caused by the inflammatory bowel diseases, Crohn’s disease or ulcerative colitis, but can also be a feature of the irritable bowel syndrome. Diagnosis often needs colonoscopy which is both time consuming and unpleasant. The large bowel needs to be emptied and a flexible tube is passed under sedation to allow inspection of the lining of the large bowel and collection of samples for microscopic examination.

On 15 July 2010 BMJ.com published a statistical analysis of research papers that had measured a protein called calprotectin in the stool of patients who had colonoscopy for suspected inflammatory bowel disease. The authors, from Groningen University in the Netherlands, concluded that a raised calprotectin levels in the stool identifies those who are most likely to need colonoscopy for diagnosis. A low faecal calprotectin safely excluded the condition in adults but was less good in children. Screening with calprotectin would reduce the number of adults needing colonoscopy by 67%.

More than 36,500 people in the UK are diagnosed with bowel cancer each year.  A five-minute screening procedure could cut their number by a third.

On 28 April 2010 the Lancet published online the remarkable results of a 16 year controlled trial led by Imperial College, London and carried out in 14 UK centres. A one-off ‘Flexi-Scope’ examination of the inside of the lower bowel in people between the ages of 55 and 64 picked up pre-cancerous polyps on the bowel wall. These were removed before they could develop into cancer. Screening was carried out on 57,099 participants, with 112,939 unscreened people as a control group. After follow up for an average of eleven years, the incidence of bowel cancer was one-third lower in those screened than in the controls, and mortality was more than 40% lower. The results of this study are so significant that Cancer Research UK is calling on the government to introduce Flexi-Scope screening alongside the current nation-wide bowel cancer screening programme that tests for traces of occult blood in faeces.

Most cases of breast and ovarian cancer do not run in families. However, two genes known as BRCA1 and BRCA2 can be passed on from parent to child and increase their risk of cancers. In 1998 Myriad Genetics was granted US patents that gave them a monopoly over lab tests for the BRCA genes. Research from Duke University in the US published in Genomics on 3 March 2010 showed that the pieces of DNA included in the patents were so broad as to extend to parts of most human genes. The American Civil Liberties Union challenged the patents in a US District Court, and on 30 March the patents were ruled invalid because Myriad had simply removed DNA that exists naturally in the body. Dr Jim Evans of the University of North Carolina at Chapel Hill, who chaired a federal task force about the role of gene patents in lab tests, said the decision was monumental and would ultimately have a big impact once it has worked its way through appeals. Many medical and scientific groups have stated that patents should not interfere with medical investigations and treatment or limit the dissemination of medical knowledge. We await challenges to this important legal decision.