People at high risk of cancer denied a £200 life saving genetic test

Ahead of Bowel Cancer Awareness Month in April, we reveal that hospitals across the UK are failing to test all bowel cancer patients at the time of their diagnosis for a genetic condition called Lynch syndrome.

Similar to the BRCA gene for people with a high risk of breast cancer, Lynch syndrome is a genetic condition that increases your lifetime risk of bowel cancer to up to 80%, as well as many other cancers including ovarian cancer, stomach cancer and womb cancer. This increased risk means people with the genetic condition are likely to develop multiple cancers over their lifetime and at a younger age – the average age of diagnosis is 45 years old.

An estimated 175,000 people have Lynch syndrome in the UK – roughly the population of Oxford. Most people (95%) with this genetic condition do not know they have it because of a lack of systematic testing. Meaning over 166,000 people living in the UK don’t know they are at a high risk of a range of cancers. It is vital people with Lynch syndrome are identified so they can take steps to reduce their risk of dying from the UK’s second biggest cancer killer.

The condition also runs in families, therefore if you have the genetic condition there is a 50 per cent chance that your children, brothers and sisters also have it. By identifying Lynch syndrome in bowel cancer patients, family members who may have the condition and be at risk of bowel cancer can also be tested.

In February 2017 the National Institute for Health and Care Excellence (NICE) recommended that everyone in England newly diagnosed with bowel cancer should be tested for Lynch syndrome. Wales and Northern Ireland follow NICE guidelines, whereas in Scotland the Scottish Molecular Pathology Consortium recommends that all bowel cancer patients under the age of 60 are referred for testing. 

Earlier this year (January 2018) we sent a Freedom of Information (FOI) request to 141 hospitals and 207 Clinical Commissioning Groups (CCGS), budget holders for NHS hospitals, in England, 14 health boards in Scotland, five Health and Social Care Trusts in Northern Ireland, and seven Local Health Boards in Wales to ask if they test all bowel cancer patients for Lynch syndrome at the time of a diagnosis.

England

• Only 22 hospitals (17%) follow best practice to test bowel cancer patients for Lynch syndrome at the point of their diagnosis.
• Most CCGs (65%) stated they do not provide the funding for Lynch syndrome testing in all newly diagnosed bowel cancer patients.
• Almost two thirds of CCGs (65%) are not providing the vital funding and resources, with more than a quarter (29%) denying it is their responsibility.
• Of those hospitals who aren’t testing for Lynch syndrome, 91% citied ‘financial’ reasons as the main barrier, and 61% listed ‘staff resources’ as a common obstacle. Other reasons included a lack of awareness of the NICE guidelines (17%), policies (14%) patient consent (3%).

Wales

• Wales is the only nation not testing all bowel cancer patients for Lynch syndrome in any of their health boards.
• Three local health boards intend to test all bowel cancer patients for Lynch syndrome, the remaining local health boards do not currently intend to carry out the testing
• 50% citied ‘financial’ reasons as the main barrier, followed by a quarter (25%) listing ‘staff resources’ and ‘policies’ as common obstacles.
  

Scotland

• In Scotland 50% of health boards test bowel cancer patients under 60 for Lynch syndrome – in line with the Scottish Molecular Pathology Consortium guidelines.
• A further 43% of health boards test all bowel cancer patients for Lynch syndrome – over and above the country’s recommendations.
• One health board in the country tests bowel cancer patients for the genetic condition based on the patient’s family history.
• Only three health boards (21%) follow best practice to test all bowel cancer patients for Lynch syndrome at the point of their diagnosis. 

Northern Ireland

• In Northern Ireland only one Health and Social Care Trust tests all bowel cancer patients for Lynch syndrome at diagnosis
• The remaining four trusts test bowel cancer patients under the age of 50 for the genetic condition
• 75% citied ‘financial’ reasons as the main barrier to test for the genetic condition

Testing for Lynch syndrome is value for money for a cash-strapped NHS. This simple test costs the NHS around £200 per patient, whereas treatment for bowel cancer is around £25,000. As this genetic condition can affect treatment options for bowel cancer, identifying Lynch syndrome in bowel cancer patients will ensure they are offered the right surgical and drug treatments and not offered treatment they won’t respond to or may have adverse reactions to.

Testing bowel cancer patients for Lynch syndrome also means that their family members can be offered testing to identify those at higher risk of developing bowel cancer and other cancers. Once they are identified they can take steps to reduce their risk of bowel cancer, or be diagnosed at an earlier stage when it is easier to treat.

To address this issue, Bowel Cancer UK and Beating Bowel Cancer is calling on national health bodies and governments across the UK to ensure the necessary funding is in place for hospitals to carry out testing for all bowel cancer patients for Lynch syndrome at the time of diagnosis.

Deborah Alsina MBE, Chief Executive of Bowel Cancer UK and Beating Bowel Cancer, says: “Until there is clear local and national leadership and a firm commitment to improve the services for people at high risk of developing bowel cancer, the estimated 175,000 people who carry this inherited faulty gene will continue to fall through the gaps of health bodies because they are reluctant to take responsibility. At the moment, hospitals are being pushed from pillar to post, with no organisation being held accountable.

“The price of testing for Lynch syndrome is peanuts, only £200 per patient. This far outweighs the cost of treating bowel cancer patients. A lack of funding and resources from budget holders means that hospitals’ hands are tied. Until these issues are being addressed generations of families will continue to be devastated by cancer and lives will be needlessly lost.”

TV presenter of The Wright Stuff and Bowel Cancer UK and Beating Bowel Cancer Ambassador, Matthew Wright, says: “My father died from bowel cancer at just 54 years old – one year older than my age right now – and my grandfather was diagnosed with the disease in his twenties but remarkably he had lived until he was 68. At the time of my father’s death, my family and I were told about Lynch syndrome and the 50 per cent chance that me and my sister could have it too. Although I was convinced I had it, it was only until five years after my father’s death that I found out I didn’t have Lynch syndrome. We need to address this crisis of families not being tested for Lynch syndrome. We have the right to know if we have a higher risk of bowel cancer, the disease is deadly and it can’t keep devastating families like mine.”  

Annika Perdomo, 53 from Warwickshire, was diagnosed with bowel cancer at 49 years old, she has Lynch syndrome: “The saddest thought for me is the fact that there’s a 50:50 chance of my 10-year-old daughter having Lynch syndrome too. She will be tested when she reaches the age of maturity, as will my nephew and nieces. But the major difference for them is that they will be screened and monitored from an early age. Unlike me, any symptoms they may be experiencing however young they are at the time, their GP will at least sit up and listen.

“My paternal grandmother died of bowel cancer many years ago, and my father and paternal aunt of other Lynch syndrome related cancers. Of course, we were not aware before my illness of any link between these family deaths. Unfortunately, three of my siblings have since tested positive with the genetic condition. Lynch syndrome is very scary due to the fact that tumours can grow more rapidly. It was for this reason that I opted for preventative surgery two years ago by having a full abdominal hysterectomy to rid the chance of me ever having an endometrial cancer. My sister also has Lynch syndrome and has been through the same preventative surgery. ”

• Find out if your local hospital tests bowel cancer patients for Lynch syndrome.
• Do you have Lynch syndrome? We’d love to hear about your experience, share your story with us
• Read our report to find out more about why it’s time to test for Lynch syndrome