Urgent improvements needed to diagnose and manage Lynch syndrome
BMJ 2017; 356 doi: https://doi.org/10.1136/bmj.j1388 (Published 20 March 2017) Cite this as: BMJ 2017;356:j1388
- Kevin J Monahan, consultant gastroenterologist and honorary senior clinical lecturer1,
- Deborah Alsina, chief executive2,
- Simon Bach, consultant colorectal surgeon3,
- James Buchanan, health economist4,
- John Burn, professor of clinical genetics5,
- Sue Clark, professor and consultant colorectal surgeon6,
- Peter Dawson, president7,
- Bianca De Souza, clinical genetics registrar8,
- Farhat V N Din, senior lecturer and colorectal surgeon9,
- Sunil Dolwani, clinical senior lecturer and vice president10,
- Malcolm G Dunlop, head of colon cancer genetics11,
- James East, consultant gastroenterologist and honorary senior clinical lecturer12,
- D Gareth Evans, professor of medical genetics and cancer epidemiology13,
- Nicola Fearnhead, consultant colorectal surgeon and chair of research and committee14,
- Ian M Frayling, consultant in genetic pathology15,
- Rob Glynne-Jones, consultant clinical oncologist16,
- James Hill, professor of colorectal surgery17,
- Richard Houlston, professor18,
- Mark Hull, professor and consultant gastroenterologist19,
- Fiona Lalloo, consultant clinical geneticist20,
- Andrew Latchford, consultant gastroenterologist and honorary senior clinical lecturer21,
- Suzy Lishman, president22,
- Phil Quirke, professor and head of pathology and tumour biology23,
- Colin Rees, professor and vice president (chair of endoscopy)24,
- Matt Rutter, professor and consultant gastroenterologist25,
- Peter Sasieni, professor of biostatistics and cancer epidemiology26,
- Asha Senapati, consultant colorectal surgeon and chairman27,
- Doug Speake, colorectal surgeon28,
- Huw Thomas, professor of gastrointestinal genetics29,
- Ian Tomlinson, professor of genetics30
- 1Family History of Bowel Cancer Clinic, West Middlesex University Hospital, Chelsea and Westminster Hospitals NHS Trust; Imperial College London, London, UK
- 2Bowel Cancer UK
- 3Queen Elizabeth Hospital, Birmingham
- 4University of Oxford
- 5Newcastle University
- 6St Mark’s Hospital
- 7Association of Coloproctology for Great Britain and Ireland
- 8North West Thames Regional Genetics Service
- 9Western General Hospital, Edinburgh
- 10Cardiff University and Welsh Association of Gastroenterology and Endoscopy
- 11Colon Cancer Genetics Group and Academic Coloproctology, Institute of Genetics and Molecular Medicine
- 12Oxford University Hospitals
- 13University of Manchester
- 14Cambridge University Hospitals NHS Foundation Trust and Association of Coloproctology of Great Britain and Ireland
- 15University Hospital of Wales
- 16Mount Vernon Cancer Centre
- 17Central Manchester University Hospitals
- 18Institute of Cancer Research, London
- 19University of Leeds and Leeds Teaching Hospitals NHS Trust
- 20Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust
- 21St Mark’s Hospital and Imperial College London
- 22Royal College of Pathologists
- 23University of Leeds
- 24British Society of Gastroenterology
- 25University Hospital of North Tees
- 26Queen Mary University of London
- 27Bowel Disease Research Foundation
- 28Western General Hospital, Edinburgh
- 29St Mark's Hospital, Imperial College London
- 30University of Oxford
- k.monahan{at}imperial.ac.uk
Lynch syndrome is currently under-recognised, underdiagnosed, and undermanaged, so opportunities to reduce cancer mortality are often missed. The new guideline from the National Institute for Health and Care Excellence recommends universal testing for Lynch syndrome in all people newly diagnosed as having colorectal cancer.1 This should prevent several hundred colorectal cancers annually, but several issues hinder good care of patients with Lynch syndrome in the UK.
Current practice in diagnostic testing for Lynch syndrome is variable. Many hospitals do not adhere to the current Royal College of Pathologists’ colorectal cancer dataset, which recommends reflex tumour testing for Lynch syndrome in patients diagnosed under 50.2 All hospitals should ensure that multidisciplinary teams for colorectal cancer are fully engaged in delivering this integrated service.
Known carriers of the gene mutation for the syndrome are inadequately managed, with poor awareness of this condition in the NHS.3 Patients are not being seen quickly enough. Many do not have personalised care strategies, and follow-up is inadequate.
Patients with Lynch syndrome often fail to receive consistent management.4 Carriers require coordinated, timely, and high quality care to reduce their cancer risk.
In March 2016 Bowel Cancer UK organised a clinical consensus meeting to tackle these issues. We call for a national registry of people with Lynch syndrome; a quality assured colonoscopic surveillance programme for people with Lynch syndrome; and a dedicated clinical champion for hereditary colorectal cancer in each multidisciplinary team to oversee local service delivery.
In short, a multifaceted and multimodel strategy is required to improve outcomes for people at high risk of colorectal cancer.
Footnotes
Competing interests: SB is a consultant for Ethicon, Cincinatti. John Burn and his team have a patent pending on a new high throughput MSI assay.
Full response at: http://www.bmj.com/content/356/bmj.j998/rr.