New report highlights UK-wide picture for people affected by Lynch syndrome

Today we launch our latest report, Finding the missing 95%: Unlocking the potential of Lynch syndrome services. 

Our report outlines new Freedom of Information (FOI) findings that reveal big improvements in testing newly diagnosed bowel cancer patients for Lynch syndrome across the UK. However, significant challenges with testing family members, data collection and offering routine surveillance colonoscopies in some parts of the UK still require urgent attention.  

Around 175,000-200,000 people are estimated to have Lynch syndrome in the UK, but less than 5% have been identified. This means around 95% of people with the genetic condition don’t know they have a high risk of bowel cancer, the UK’s second biggest cancer killer, as well as a range of other cancers, including ovarian, stomach and womb.  

Lynch syndrome runs in families, and if a person has the condition there is a 50% chance that their siblings and children also have it. By identifying the genetic condition in newly diagnosed bowel cancer patients, family members who may have Lynch syndrome and be at risk of bowel cancer can also be tested. Once diagnosed, to manage the condition, regular surveillance colonoscopies can be offered which can detect bowel cancer at an early stage when it is treatable and curable. In some cases this can even prevent it from developing in the first place. Having regular surveillance colonoscopies can reduce these people’s risk of dying of bowel cancer by as much as 72%. 

The National Institute for Health and Care Excellence (NICE) recommend family members of people with Lynch syndrome should be tested. NHS England advises providing people with a letter to take to their doctor, highlighting their risk of Lynch syndrome and advising their referral for genetic counselling and testing. 

NICE guidance applies to England and Wales and has been endorsed in Scotland by the Molecular Pathology Consortium as well as in Northern Ireland by the Department of Health. 

Between April-July 2023, we sent a FOI request to 21 Cancer Alliances in England, 14 Health Boards in Scotland, seven Health Boards in Wales and six Health and Social Care Trusts in Northern Ireland. We asked: 

• If they test all bowel cancer patients for Lynch syndrome at the time of a diagnosis 
• For anyone with the genetic condition, if their immediate family members are sent letters, which is one route to accessing genetic counselling and testing   
• If they offer high quality surveillance colonoscopies at the recommended two-year interval for everyone with Lynch syndrome 
• If they offer them a comprehensive package of care and information 

The FOI findings reveal: 

England

• Most Cancer Alliances (92%) are testing all newly diagnosed bowel cancer patients for Lynch syndrome – an impressive increase from 17% in 2018 when we last commissioned an FOI request on this issue  
• England is the first country in the world to offer everyone living with Lynch syndrome regular high-quality colonoscopies through the national Bowel Cancer Screening Programme to reduce their risk of bowel cancer, which is a fantastic step forward and should be replicated in the other nations of the UK   
• Nearly 4 in 10 Cancer Alliances who responded to the FOI request, report that family members of people with Lynch syndrome aren’t offered letters, which is one route to accessing genetic counselling and testing   
• 7 in 10 Cancer Alliances reported that comprehensive care for those with Lynch syndrome is provided in their local area. This includes access to genetic counselling and psychological services, signposting patients to support groups and charities as well as health information about the condition  

Scotland 

• Nearly all Health Boards are testing newly diagnosed bowel cancer patients for Lynch syndrome – an increase from 43% in 2018  

• Nearly 4 in 10 Health Boards aren't offering letters to family members who may have a high risk of Lynch syndrome to take to their GP which is one route to accessing genetic counselling and testing   
• Only half of Health Boards offer surveillance colonoscopies at the recommended two-year interval  

Wales 

• All Health Boards are testing newly diagnosed bowel cancer patients for Lynch syndrome – an increase from zero in 2018, which is a much-welcomed improvement 
• Only half of Health Boards offer close relatives letters to take to their GP, which is one route to accessing genetic counselling and testing  
• Although five out of six Health Boards offer surveillance colonoscopies at the recommended two-year interval, the majority couldn’t provide any information on how many people have accessed these routine checks   

Northern Ireland 

• Four out of five Health and Social Care Trusts are testing all newly diagnosed bowel cancer patients for Lynch syndrome, with one Trust testing 90% of patients – an increase from 20% in 2018, again a much-welcomed improvement 
• Only one Trust is providing letters for close relatives to take to their GP, which is one route to accessing genetic counselling and testing 
• While it’s promising that 80% of Trusts offer surveillance colonoscopies at the recommended two-year interval, no Trust could provide information on how many people had accessed this service 
• Only one Trust provides a comprehensive package of care for those with Lynch syndrome  

 

Genevieve Edwards, Chief Executive at Bowel Cancer UK, says: “We commend the NHS across the UK in their vast improvement to test all newly diagnosed bowel cancer patients for Lynch syndrome. However, the missing pieces of the puzzle in finding more people with the genetic condition is testing their family members and once they’re diagnosed offering them regular high quality surveillance colonoscopies, and this isn’t happening consistently across the UK. This untapped potential is undermining ambitions to support early diagnosis for bowel cancer.  

“By addressing gaps in testing, providing timely information to high-risk individuals and their families, and ensuring a package of comprehensive care, we can empower families to take proactive steps to reduce their risk of bowel cancer as well as many other cancers, ultimately saving lives.”  

Matthew Wright, journalist, TV presenter and broadcaster who often appears on ITV This Morning and patron of Bowel Cancer UK, says: “Following my father's death of the disease, we learned about Lynch syndrome and the 50% likelihood that my sister and I could inherit it. Despite my initial belief that I had the genetic condition, it took five years after my father's passing to confirm that I did not. Although this was a huge relief, it did cast a dark shadow over my family’s health for many years. The urgency lies in addressing the widespread lack of testing for Lynch syndrome in families.”   

Kevin Monahan, Consultant Gastroenterologist at St Mark’s Hospital, London, and medical advisor for Bowel Cancer UK, says: “By identifying and supporting the thousands of undiagnosed individuals with Lynch syndrome, we can offer them the many benefits that will help to prevent bowel cancer, as well as many other cancers, more effectively and improve their outcomes after a diagnosis. Together, with Bowel Cancer UK and the work of the National Lynch Syndrome Project that I’m part of, we aim to reshape the future of cancer care for these high-risk people and their families.”

 

• Read our new report ‘Finding the missing 95%: Unlocking the potential of Lynch syndrome services’ 
• Find out more about our Lynch syndrome campaign 
• Learn more about Lynch syndrome and other genetic conditions that can increase the risk of bowel cancer 
• Become a campaign supporter and help us to take action on our campaigns to help us improve early diagnosis and access to best treatment and care for all those affected by bowel cancer.