Lynch syndrome is a common and inherited condition that puts those affected by it at risk of numerous cancers. The National Institute for Health and Care Excellence (NICE) has recommended all bowel cancers be screened so as to pick up Lynch syndrome; a move that will undoubtedly save lives. However, for many women, womb cancer is the first sign of Lynch syndrome. By not screening womb cancer, a disease exclusive to women, for Lynch syndrome, Dr Emma Crosbie and Dr Neil Ryan ask if NICE have overlooked a gender disparity in existing screening guidance? 

• Lynch Syndrome is a relatively common genetic condition that increases the risk of numerous cancers. It is most normally associated with bowel cancer and womb cancer.
• Early detection of Lynch syndrome allows for cancer surveillance. The evidence is clear: actively looking for pre-cancers/early bowel cancers in those with Lynch syndrome saves lives. This had lead to NICE recommending all bowel cancers are screened for Lynch syndrome.
• Women often get womb cancer before any other signs of Lynch syndrome. The number of womb cancers linked to Lynch syndrome is roughly the same as bowel cancers. Therefore many experts recommend it too should be screened for Lynch syndrome.
• The question has to be asked if current NICE guidelines on the screening of cancers for Lynch syndrome put women at a disadvantage.

In February of this year, NICE published Diagnostic Guideline number 27 (DG27), which recommended that all people with colorectal/bowel cancer should be offered testing for Lynch syndrome. This came after sustained and passionate lobbying by key stakeholders coordinated by Bowel Cancer UK.

Although DG27 is not an edict from on high, it is a powerful instrument that directs individual hospitals’ service provision and many hospitals are now looking at how to implement the guideline.

You may well think it seems like closing the stable door after the proverbial horse has bolted to diagnose someone with a condition that puts them at risk of cancer once they have cancer. However, knowing if the cancer is a result of Lynch syndrome has treatment implications. Different therapies are more effective for the treatment of cancer in Lynch syndrome. Moreover, it allows family members to be tested – a practice called cascade testing. If relatives are found to carry Lynch syndrome they can be enrolled in regular bowel and womb surveillance programs. These programs have been shown, in bowel cancer, to reduce cancer-related deaths.

A gendered disparity in DG27

DG27 is however flawed. That is because Lynch syndrome is as common in womb cancer as it is in bowel cancer. Furthermore, it is often the first cancer women with Lynch syndrome get. Womb cancer has generally an excellent prognosis and so women often survive. So it is perfectly feasible that women with Lynch syndrome have their womb cancer treated, survive but go on to develop bowel cancer; a condition that is far more lethal. That bowel cancer could have been potentially avoided or caught early if they had been tested for Lynch syndrome at the time of their womb.

As womb cancer is often the first cancer, it would also enable an earlier cascade testing. Any relatives found to carry Lynch syndrome could then be offered cancer surveillance from an earlier point helping save more lives.

Our work and next steps

Recently The University of Manchester hosted a meeting of international experts to explore the implications of Lynch syndrome in women. They were of the unanimous opinion that, in developed health systems, womb cancer should be universally tested for Lynch syndrome.  There was no reason to only test bowel cancer.

Even the potential monetary concerns about increased resource demand with increased testing did not bear out. In an economy of scale introduced through universal testing of bowel cancer, the cancers prevented would more than compensate for adding the relatively few womb cancers.

So why is womb cancer not included in the universal testing guidance in DG27?  After all, it is as common in Lynch syndrome as bowel cancer, can be the first sign of Lynch syndrome and enables bowel surveillance in womb cancer survivors and their families. The honest answer is that the experts do not know.

There are numerous mentions of womb cancer in the document and recognition of its impact on the life of women with Lynch syndrome. Yet it is absent from the actual recommendation.

Soon our team will publish work undertaken here in Manchester looking to pilot universal Lynch syndrome screening in womb cancer.  In addition, we will publish the consensus opinion of international experts on how women with Lynch syndrome should be cared for.

Alongside other key stakeholders will demonstrate this new evidence and our concerns to policymakers in the hope they will move to rectify the absence of womb cancer in DG27.