UK colorectal cancer patients are inadequately assessed for Lynch syndrome

Abstract

ObjectiveTo establish whether colorectal cancer patients in two centres in the UK are screened appropriately for Lynch syndrome, in accordance with current international guidance.DesignPatients newly diagnosed with colorectal cancer over an 18-month period were identified from the UK National Bowel Cancer Audit Programme. Their records and management were reviewed retrospectively.SettingTwo university teaching hospitals, Imperial College Healthcare and Oxford Radcliffe Hospitals NHS Trusts.Outcomes measuredWhether patients were screened for Lynch syndrome—and the outcome of that evaluation, if it took place—were assessed from patients' clinical records. The age, tumour location and family history of screened patients were compared to those of unscreened patients.ResultsFive hundred and fifty three patients with newly diagnosed colorectal cancer were identified. Of these, 97 (17.5%) satisfied the revised Bethesda criteria, and should have undergone further assessment. There was no evidence that those guidelines had been contemporaneously applied to any patient. In practice, only 22 of the 97 (22.7%) eligible patients underwent evaluation. The results for 14 of those 22 (63.6%) supported a diagnosis of Lynch syndrome, but only nine of the 14 (64.3%) were referred for formal mismatch repair gene testing. No factors reliably predicted whether or not a patient would undergo Lynch syndrome screening.ConclusionsColorectal teams in the UK do not follow international guidance identifying the patients who should be screened for Lynch syndrome. Patients and their families are consequently excluded from programmes reducing colorectal cancer incidence and mortality. Multidisciplinary teams should work with their local genetics services to develop reliable algorithms for patient screening and referral.

Colorectal Cancer Stratification in the Routine Clinical Pathway: A District General Hospital Experience

“…LS is the most common cause of hereditary bowel cancer and carries an increased risk of developing other cancers (11). LS is estimated to cause 1,000 cases of bowel cancer each year in UK, yet fewer than 5% of people with this condition are currently identified (12). This guidance significantly increases the amount of testing required but our study demonstrates that testing all CRC patients for MMR using in-house IHC in a DGH is feasible.…”

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

“…Awareness of hereditary conditions may be inadequate, resulting in an inconsistent approach to the management of these individuals 9 11. Many patients do not have personalised management strategies and there is a failure to provide adequate follow-up 12 13. Patient advocacy organisations recommend improvements in the detection of pre-cancerous polyps, early diagnosis of CRC, and personalised treatment options for LS individuals, who should be seen by a team of specialists 14.…”

A model-based assessment of the cost–utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients

“…[ 4 ] High quality data from randomised trials is not available regarding the effectiveness of colonoscopic surveillance, but the best available published evidence suggests a 62% reduction in the risk of CRC for individuals with LS undergoing 3-yearly colonoscopy in Finland [ 5 , 6 ]. Despite the evidence showing that colorectal surveillance is effective in LS, recent work shows that there is poor compliance in the UK with international guidelines, with inadequate assessment and wide variability in the management of LS [ 7 ].…”