Molecular testing strategies for Lynch syndrome in people with colorectal cancer

2 Summary of NICE recommendations

NICE recommends that all colorectal cancers be tested, when first diagnosed. This can be done using immunohistochemistry (IHC) for mismatch repair proteins or microsatellite instability (MSI) testing to identify those with deficient DNA mismatch repair, and to guide the offer of further sequential testing for Lynch syndrome. The guidance also recommends not waiting for the results before starting treatment.

Shared decision making puts people at the centre of decisions about their own treatment and care by exploring care or treatment options and their risks and benefits, discussing choices available and reaching a decision about care or treatment, together with their healthcare professional.

In line with these principles, healthcare professionals should ensure that people are informed of the possible implications of test results both for themselves and their relatives. This may be achieved by trained healthcare professionals having sensitive discussions with each person about genetic testing and the risks and benefits of such testing. Relevant support and information should be available to support this.

Laboratories doing IHC or MSI testing, should take part in a recognised external quality assurance programme.

Please see the NICE testing strategies flowchart.