A national Lynch syndrome registry
Lead researchers: Professor Sir John Burn and Dr Jem Rashbass
Location: Newcastle University
Grant award: £146,955
Dates: June 2018 to November 2020
Lynch syndrome is a genetic condition that increases the lifetime risk of bowel cancer to up to 80%. Professor Sir John Burn, working with Dr Jem Rashbass at Health Data Insight CiC, created a national registry of people with Lynch syndrome to help inform surveillance, treatment and care of people with the condition.
The challenge
People with Lynch syndrome are more likely to develop bowel cancer at an early age due to changes in a set of genes called the mismatch repair genes. Research has shown there could be over 200,000 people in the UK with this genetic condition, yet fewer than 10,000 have been identified. Regular surveillance has been shown to save lives as well as costs, but care is poorly coordinated.
However, scientists don’t yet understand if all the changes to the mismatch repair genes definitely increase a person’s risk of developing cancer.
The science behind the project
Researchers built on work that’s already been done for people with changes in genes linked to breast cancer (called BRCA 1/2). Using a tried and tested way of anonymising patient information, they linked records of people with Lynch syndrome who go on to develop cancer to Public Health England’s National Disease Registration Service. This was to understand more about how and when people are tested for Lynch syndrome, if and when they develop bowel cancer, and their surveillance, treatment and survival.
Results
The project collected data from all 12 NHS England labs that test these genes, covering around 20,000 people tested since January 2000, and linked it to the national cancer registration system. The steps used in this data collection and processing are now embedded within the National Disease Registration Service, so the work can continue long-term.
The data collected suggests that Lynch syndrome is greatly underdiagnosed, with many people only being tested once they have been diagnosed with cancer.
If you like, you can find out more about this work by reading this key research article, published by the researchers.
Other impact
The team have published 26 papers in scientific journals, to share knowledge with other researchers. Professor Burn has taken part in 11 engagement activities to further communicate his work, including radio interviews with the BBC and speaking to Lynch syndrome patient groups.
He has sat on two advisory committees to influence strategy and practice within the cancer field. He has also been recognised with honorary life membership to the International Society for Gastrointestinal Hereditary Tumours and invited to give the Harveian Oration at the Royal College of Physicians.
What difference will this project make?
This is the first time this type of information has been combined in this way anywhere in the world. Having access to detailed anonymised data on people with different gene mutations means researchers will be able to work out whether surveillance, treatment and care needs to be tailored as a result.
The evidence that Lynch syndrome is underdiagnosed will be used to argue for more Lynch syndrome testing within the NHS, as once people are diagnosed they can be offered medication to reduce their risk of bowel cancer, and screening to find cancers at an early stage.
In the longer term, it may provide additional information about some of the genetic changes we understand less about. For example, we may discover that some changes in mismatch repair genes are not linked with an increased risk of cancer, whilst others are. Strategies to prevent cancers developing can therefore be tailored more appropriately.
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