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Lynch syndrome: time to get testing

There’s a genetic test that can help people take action to prevent cancer or find it early when it is easier to treat.

The test determines whether a cancer patient has a type of cancer caused by an inherited genetic condition. As well as allowing them to receive tailored treatment, it can also help their family members understand if they are at high risk of developing bowel and other types of cancer.

We know the test works and can be implemented in the NHS for bowel cancer. But not all patients can get tested – why?

DNA molecule

What is Lynch syndrome?

Lynch syndrome is an inherited genetic condition which increases a person’s risk of developing some types of cancer, including bowel cancer.

People with Lynch syndrome carry a mutation in a segment of DNA called a ‘mismatch repair gene’. These genes act as ‘repair tools’ and are responsible for fixing any changes that happen when a cell divides.

Cells need to divide so that our bodies can grow and develop, but sometimes they can become damaged during this process.

If ‘mismatch repair genes’ carry a mutation, they do not work properly and mistakes are not always repaired correctly.

Cells can develop more and more mistakes as they continue to multiply, and over time, this can lead to the cells becoming cancerous.

How is Lynch syndrome linked to cancer?

Bowel cancer is one of the most common cancers in the UK, and Lynch syndrome is thought to be involved in around 1 in 30 cases. In 2019, 3,497 people in Yorkshire were diagnosed with bowel cancer, so around 115 of these bowel cancers will have been Lynch syndrome-related.

People with Lynch syndrome are at risk of developing bowel cancer at a younger age, and their cancer progressing more quickly.

Lynch syndrome also increases risk of developing other cancers, including cancers of the endometrium (lining of the womb), ovaries, stomach, small intestine, pancreas and brain.

As Lynch syndrome is an inherited genetic condition, family members may also have the genetic condition and be at higher risk.

1 in 30

cases of bowel cancer in the UK is thought to be linked to Lynch Syndrome.

How should people be tested for Lynch syndrome – and why?

The National Institute for Health and Care Excellence (NICE) provides guidelines to the NHS for Lynch syndrome testing. NICE recommends that all people diagnosed with bowel or endometrial cancer should be offered a series of tests to confirm if they have Lynch syndrome.

These recommendations on testing are important, as they are intended to help identify people with Lynch syndrome earlier and more consistently. If implemented, they mean that if someone finds out they do have Lynch syndrome, their families can also get tested. People with Lynch syndrome can access bowel screening at a younger age, as well as preventative measures such as aspirin to counteract some of their increased risk of developing bowel cancer.

So what’s the problem?

The NICE guidelines are just guidelines, and they are not being implemented evenly across the country, or even across Yorkshire. In most areas in England, testing is not being fully implemented (for example, it’s only available to certain people), or it’s not being offered at all.

There are many barriers, including funding and staff. But one of the main hurdles is that in England, it is unclear exactly who is meant to be leading the implementation of testing.

Many bodies that commission services locally do not believe it’s their responsibility. Instead, they argue it should be implemented at a national level, via NHS England or the Bowel Cancer Screening Programme. However, there is no national policy for Lynch syndrome testing, so NHS England argues it should be local decision makers who commission and pay for testing.

This confusion, along with other factors, means that who gets access to Lynch syndrome testing in England and Yorkshire has become a ‘postcode lottery’.

Lynch syndrome testing in Yorkshire

We know that Lynch syndrome testing works. We’ve shown that putting these NICE recommendations into practice is possible.

Yorkshire Cancer Research funds the Bowel Cancer Improvement Programme in Hospital Trusts across Yorkshire, which together serve a total of 5.2 million people.

As part of the programme, 13 of 16 medical teams within these Trusts successfully implemented Lynch syndrome testing in line with the NICE guidelines – proving that it can be delivered by the NHS at scale.

We believe that all people with bowel cancer in our region should be referred for Lynch syndrome testing as part of their standard patient care.

More than 13,500 people in Yorkshire are estimated to have Lynch syndrome, though fewer than 5% of these will know they have it.

Better testing, carried out following a diagnosis of bowel cancer and endometrial cancer, would ensure more people could have cancer screening and preventative measures. This could stop people in Yorkshire getting cancer, and possibly dying from cancer.

13,500 people

in Yorkshire are estimated to have Lynch syndrome.

But fewer than 5%

of these people will know they have it.

What else can be done?

The NICE guidelines rely on the testing of people who already have cancer – but what if we could test everyone before cancer happens?

Lynch syndrome testing could be introduced for the whole population, so everybody could find out if they are at higher risk of some types of cancer. This would help to identify the 95% of Lynch syndrome carriers who don’t know they have the condition.

Identifying families with Lynch syndrome would also benefit future generations, giving them the knowledge they need to prevent cancer or find it early.

This is more than just a pipe dream. Yorkshire Cancer Research is already funding a new study to investigate whether testing for Lynch syndrome and other common genetic conditions can be introduced for everyone.

What needs to happen now?

We’re calling on the UK Government to back national Lynch syndrome testing, and ensure that NHS England funds Lynch syndrome testing across the country.

In the meantime, commissioning bodies, hospitals, and Integrated Care Systems should work together to implement NICE guidelines on Lynch syndrome testing.

This will help make sure more people have access to Lynch syndrome testing, something which could prevent them from getting cancer, and maybe even save their life.

In most cases, bowel cancer is not passed down through the family. However, speak to your GP if you have:

  • A close relative (parent, sibling or child) who is diagnosed with bowel cancer before the age of 50.
  • Two or more close relatives who have been diagnosed with bowel cancer at any age (for example your parent, and their sibling or parent).
  • A relative with a known genetic condition that is linked to bowel cancer, such as Lynch syndrome or familial polyposis.

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