Improving Diagnosis of Lynch Syndrome
In a letter published in the British Medical Journal, Bowel Cancer UK, the UK’s leading bowel cancer research charity, and 30 leading clinicians and scientific experts have called for urgent improvements in the diagnosis and care of people with Lynch syndrome, which currently falls well below international standards.
This letter follows the recent recommendation from National Institute for Health and Care Excellence (NICE) that everyone in England newly diagnosed with bowel cancer should be tested for Lynch syndrome. Previous Royal College of Pathologists guidelines recommended only testing people under 50, NICE have expanded this to include all ages.
Lynch syndrome is a serious inherited genetic condition that devastates generations of families with cancer. Similar to the BRCA gene for people with a high risk of breast cancer, it increases the risk of developing bowel cancer by as much as 80%, as well as many other cancers. An estimated 175,000 people have Lynch syndrome in the UK but a staggering 95% of those do not know they have it; meaning opportunities to save lives are being missed. This NICE recommendation will go a long way in addressing this problem.
Identification is crucial so that people can take steps to reduce the chance of recurrence either through preventative surgery or regular colonoscopy, which can detect bowel cancer early when it is easier to treat and survival rates are high. Testing individuals who are diagnosed with bowel cancer will further prompt identification of family members who may also carry the faulty gene and would benefit from surveillance or preventative treatment.
Despite this welcome change to NICE guidance, Bowel Cancer UK and the UK’s leading clinicians in genetics and bowel cancer are still concerned that a number of urgent improvements are necessary, as current practice in the diagnosis and management of Lynch syndrome is “variable, ad hoc and has led to a ‘postcode lottery’”.
A Bowel Cancer UK report from November 2016 revealed many patients consistently fail to receive adequate care, with many experiencing delays to crucial tests that could reduce their risk of cancer. To address these problems clinicians have called for additional investment to ensure hospitals have the resources and capacity to identify people with Lynch syndrome and their families, and the resources to deliver an efficient and effective high quality monitoring service to reduce their risk of developing cancer.
Deborah Alsina MBE, Chief Executive, Bowel Cancer UK: “We hear every day how generations of families have been affected by cancer because they have Lynch syndrome. This NICE guideline has the potential to help us identify families at risk. However it is just the first step, the guidance must be fully implemented and people with Lynch syndrome need access to regular surveillance screening to ensure any new tumours are prevented or detected early. If we finally address the shocking nationwide lottery of services then we truly could stop this serious genetic condition devastating whole families in the future.
“Now England has taken this vital step forwards, we urge the Scottish Parliament and Assemblies in Wales and Northern Ireland to follow England's announcement in the near future and introduce testing for Lynch syndrome to everyone diagnosed with bowel cancer.”
Dr Suzy Lishman, President, The Royal College of Pathologists: “This recommendation is a significant development in improving the identification of people with Lynch syndrome. We now need to ensure that pathology laboratories, genetic services and endoscopy centres have the necessary resources to enable hospitals to implement this recommendation and also deliver a high quality surveillance service for people with Lynch syndrome. If we can identify those at highest risk and offer regular surveillance, cancers will be identified at an earlier stage and lives will be saved."
Annika Perdomo, 53 from Warwickshire, was diagnosed with bowel cancer at 49 years old, she has Lynch syndrome: “The saddest thought out of all this 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 apparently 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. ”
Bowel Cancer UK has started a petition calling on UK health ministers to step in and take responsibility for identifying and managing people with Lynch syndrome, sign the petition on the charity’s website: bowelcanceruk.org.uk
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