A major study led by Ian Frayling from Cardiff University (UK) has demonstrated that screening family members of patients with bowel cancer for the genetic condition known as Lynch syndrome (LS) could reduce their risk of developing bowel, womb and ovarian cancers. Results from the study were published recently in Health Technology Assessment.
Without testing cancers, it is not obvious that they are associated with LS and the syndrome is often undiagnosed. According to Frayling: ”If LS is identified as the cause of bowel cancer, patients can be offered risk-reducing measures such as more intensive postoperative colonoscopy surveillance to spot recurrences and new cancers early.”
Lynch syndrome is an inherited autosomal dominant disorder, and family members of patients have a 50% chance of carrying the gene. The group assessed the effectiveness of screening family members, so that those who test positive could be offered cancer risk-reducing measures.
As part of the study, 1700 individuals under the age of 50 years with newly developed bowel cancer were screened. Findings revealed that of those screened, two thirds had cancer that was caused by LS. Furthermore, the study suggests that from this group, 40 further cases of cancer could be avoided in patients and their relatives.
Frayling commented: “It justifies the National Health Services (NHS) in the UK in implementing such testing, which is already carried out in other European countries.”
A computer model of screening methods for LS was constructed based on a total of 42 studies. It found that all screening techniques improved health outcomes at a cost that was acceptable to the NHS. The most cost effective screening techniques for LS involved a combination of running tests on the tumor, genetic testing and counselling.
In a separate unpublished study, the group utilized this model to predict that 28 cancer-related deaths could be prevented each year if LS screening was given to patients with bowel cancer.
Tristan Snowsill of the University of Exeter’s Medical School (UK) commented: “This is the first evidence that systematic testing for LS could be cost-effective in the NHS.”
The Chief Executive of Bowel Cancer UK, Deborah Alsina, said: ‘We welcome these research findings which demonstrate that lives can be saved through earlier identification of those who are at higher risk of bowel cancer because of genetic conditions like Lynch syndrome.’
Sources: Snowsill T, Huxley N, Hoyle M et al. A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technology Assessment, 2014; 18 (58): 1 DOI: 10.3310/hta18580; Cardiff University press release