Lynch Syndrome: Testing guideline change means a big win for cancer prevention

The publication of a new national health guideline on Lynch Syndrome and endometrial (womb) cancer is an important step forward for women’s health, Lynch Syndrome diagnosis, and cancer prevention. Dr Neil Ryan, The University of Manchester, blogs about the announcement.

Background

In 2018, we began calling for the automatic testing of women with womb cancer for an inherited condition known as Lynch Syndrome. Lynch Syndrome is an inherited genetic condition that increases an individual’s risk of developing womb and colorectal cancers, and (to a lower increased risk but still one which should be considered) for some other cancers including ovarian, prostate, liver and bile duct, skin, brain and some breast cancers.

In a series of videos for our #LetsTalkLynch campaign, we argued that testing women with womb cancer for Lynch Syndrome was important for a number of reasons:

  • In women with Lynch Syndrome, womb cancer often develops before bowel cancer – diagnosing Lynch at this earlier stage will mean a better chance to reduce risk of bowel cancer and detect bowel cancer earlier through regular surveillance
  • Because Lynch Syndrome is genetic, every diagnosis can lead to ‘cascade testing’ of family members, allowing more people to be diagnosed and able to know about, and takes steps to manage, their own cancer risk

Our research showed that Lynch Syndrome is as prevalent in womb cancer cases as it is in bowel cancer cases. In both, just over 3% of patients are likely to have Lynch. This is important because the body that sets national health guidance for England and Wales (NICE – the National Institute for Health and Care Excellence) had already published a guideline calling for Lynch Syndrome testing for everyone diagnosed with Bowel Cancer.

Engaging with NICE

In 2018, we made contact with NICE and they agreed to a preliminary meeting. We explained the evidence that our research had developed and the benefits that universal testing for Lynch in cases of womb cancer would deliver. The team at NICE advised us on the process by which we had to formally notify them of our evidence in order for them to be able to consult on the creation of a new guideline.

We went through the early steps of engagement, preparing a Medical Technology Innovation Briefing (or, ‘Medtech’) laying out why it is important to conduct this testing, how the tests can be conducted, and the evidence on costings and acceptability (to patients) of testing that had all been developed during our research. This was conducted at The University of Manchester, led by Professors Emma Crosbie and Gareth Evans, and Dr Neil Ryan. Patient voices have been really important in this work and we would like to say a special thank you to Lynch Syndrome UK and all the wonderful patients and their families who have shared their stories and their family histories, to highlight this issue.

Their briefing then led to NICE creating a committee tasked with scoping the topic and with developing a guideline.

The research team here did not take part in the committee’s work or guideline creation process, in order to ensure the neutrality and integrity of the process. In all, it took around 18 months, with a slight delay due to COVID-19 at the end.

We are delighted to announce that today NICE have published this guideline for those diagnosed with womb cancer. This is welcome news for those of us campaigning on all fronts for every aspect of cancer prevention and risk prediction. Finding out if you carry a genetic mutation that puts you at higher risk of cancer development allows you – and your relatives – to take preventative action.

The Guideline

The guideline follows the recommendations that led on from our research, that all women should be offered the Lynch Syndrome test when they are diagnosed with womb cancer.

It’s always hard to put a number on what has hasn’t happened! We estimate that as a result of this guideline:

  • An additional 1,000 diagnoses of Lynch Syndrome in England and Wales every year (that is, the total of womb cancer patients that test positive, plus the an average of three family members who test positive through ‘cascade testing’)
  • Each of those individuals receiving risk-reduction advice, and entering into regular surveillance (such as colonoscopies) to pick up any future bowel cancer as quickly as possible
  • Each female family member who receives a Lynch Syndrome diagnosis through a cascade test, will also have access to advice on risk reduction and surveillance for their increased risk of womb cancer

Womb cancer is often the first (also known as signal ) cancer for people with Lynch Syndrome, and with this in mind we can see that the new guideline will not only protect the woman for this cancer, it will also raise her awareness for her and her clinicians on her risks of bowel and other cancers.

With the advice and surveillance programmes that a Lynch Syndrome diagnosis leads to, those 1,000 people per year will find their life expectancy improved to the same level as someone without the mutation. So, fantastic news for cancer prevention.

All of this points towards a huge breakthrough in women’s health, cancer screening, early detection, and survivability which can follow from the publication of this guideline.

The Future

This is, of course, not the end of the story. NICE guidelines are the ‘best practice’ standard that our health services should conform to, but they are neither mandatory or legally enforceable. The next step will be for us, as well as cancer charities, political leaders, and members of the public, to make the case to our healthcare commissioners that this new NICE guideline should become standard practice. It’s also to make EVERYONE aware of what best practice is – so if it isn’t offered, you can ASK.

Our research has shown that the relative costings for Lynch Syndrome tests are small, with the basic costs of £45/patient far below the average costs of the bowel cancer treatment it might prevent (c.£14,500/patient). This is an important argument because we can show that these savings make economic sense, as well as the incalculable value of the lives that early diagnosis will save.

One model for this next phase comes from the fantastic work of Bowel Cancer UK, who did not stop with the publication of NICE DG27 (Lynch Syndrome testing in bowel cancer diagnoses) but have continued to drive the argument for adopting this guideline across the country. We hope that the publication of the guideline that our work has informed (DG42) will add new voices and new urgency to all existing calls for widespread Lynch Syndrome testing as a matter of course.

Throughout this process, NICE have been open, engaging, and clearly dedicated to achieving the best outcomes, treatments, and quality of life for patients here in the UK. The process, although daunting at first, has shown the importance of regular and proactive contact between researchers, clinicians, and policymakers.

This step forward in cancer prevention is a brilliant example of how charities, health practitioners and NICE, working together, have achieved something of genuine value for the individuals and families that we are here to help.

Hear from two patients who have been affected by Lynch Syndrome on what this means to them