Molecular testing strategies for Lynch syndrome in people with colorectal cancer

Clinical champion(s): could be a clinician within the colorectal MDT, for example, a colorectal surgeon or gastroenterologist. They should have the relevant knowledge and understanding to be able to drive the project, answer any clinical queries and champion the project at a senior level. It may be helpful to have a clinical geneticist to support this role.

Project manager: could be someone in a clinical or managerial role who will be responsible for the day-to-day running of the project, co‑ordinating the project team and ensuring the project is running as planned. Examples of roles that may act as project managers include pathologists and clinical scientists. Depending on current service provision, a dedicated project manager may be needed to support adoption of this guidance.

Management sponsor: will be able to help assess the financial viability of the project, drive the formulation of a business case and help to show the benefits achieved. This member of the team may be based in a laboratory or clinical genetics service because this is where the costs will be incurred.

Genetic counsellors, colorectal nurses, histopathology laboratory staff and molecular genetics laboratory staff: will be valuable members of the project team because they will be providing the service.

Clinical audit facilitator: to help set up mechanisms to ensure that every patient is tested and that their test results are discussed as well as collecting and analysing local data related to the project metrics and audit needs.

Attendance at colorectal cancer MDT meetings or liaising with people who attend them. Representatives from the local pathology laboratory, specialist clinical laboratory and clinical genetics services may organise regular communication with a lead member of the MDT. Contributors advised that attendance at weekly MDT meetings was helpful at the start of the project. After this, electronic communication and attendance at the annual MDT meeting is enough.

Automatic MMR testing of all CRCs (if service capacity allows) using either immunohistochemistry (IHC) or microsatellite instability (MSI) and inclusion of this in the standard pathology report requested by oncology. If service capacity will not allow for MMR testing of all CRCs, a decision may need to be made on those to prioritise in the early stages of implementing a strategy (phased introduction). If a phased introduction to testing is deemed appropriate locally, plans should be in place to expand this to testing all CRCs in the future.

Identifying when people with abnormal results for MMR testing should be referred to a clinical genetics service and establishing robust referral mechanisms for this. The MDT may be best placed to make this referral after collation of all test results.

The point at which to get patient consent for genetic testing and for sharing information with relatives.

Providing further sequential testing within a regional molecular genetics laboratory or other specialist service depending on results.

Feedback of test results to all services involved and to patients.

Prepare a business case including full cost considerations of the increased capacity needed for testing all CRCs compared with the current service model. Depending on the current service model, a phased introduction may need to be considered possibly focussing on the highest risk in the first instance. The infrastructure of the service should be designed to ensure equity of access to consistent and quality assured testing strategies. Consolidation of service models may help to achieve this and ensure smaller organisations are able to offer testing to patients.

Staff in laboratories doing MSI or IHC testing should have training on how to carry out and interpret results and should take part in a recognised external quality assurance programme.

Establish champions (named individuals with a specialist interest and up-to-date knowledge) in each department and within each colorectal cancer MDT to whom questions and requests can be addressed.

When testing is carried out in more than 1 laboratory, arrange to contact the colorectal MDT lead electronically or set up a service delivery group to discuss collated test results. This can help with decisions on further sequential testing and referral.

Ensure that the correct samples are sent from histopathology laboratories to specialist clinical laboratories for testing. This could be done by clarifying what is needed on export request forms and by raising awareness in histopathology laboratories about the tissues and formats needed to carry out relevant tests (see developing local documentation and Central Manchester University Hospitals NHS Foundation Trust's website for example letters to pathology detailing how tumour samples need to be prepared and labelled for testing).

Clinical genetics specialists may want to liaise with the colorectal cancer MDT lead within their local services.

Develop a clear flow diagram that shows what testing and onward referral is needed and signposts to whom that referral should go to at local level.

Identify clinical champion(s) for education who can offer training and awareness-raising initiatives, particularly to colorectal surgeons and specialist cancer nurses to increase their identification of people who may have Lynch syndrome.

Use the resources to support awareness raising developed by Lynch Syndrome UK.

Laboratory staff may need training on how to carry out and interpret the tests covered by this guidance. The sites that have contributed to this resource reported that colleagues with experience of doing these tests may be able to help with this.

Consider providing training for pathologists as part of a molecular pathology attachment done during their training period, which could include correct preparation and marking of tumour samples.

Develop resources and information for patients that explain why they have been referred to clinical genetic services because of the results of their tumour tests (see developing local documentation).

At the review appointment with the oncologist or colorectal surgeon, explain the benefits both for them and possibly their relatives.