For high-risk individuals, pre-symptomatic detection and treatment of precancerous adenomas or early cancers by screening is extremely important: studies have shown that regular surveillance reduces morbidity and mortality from colorectal cancer in Lynch syndrome families. Genetic testing for germline MMR mutations may increase compliance with colon cancer screening recommendations but it is complicated, time-consuming, and expensive. Therefore, a step-wise approach is currently recommended to detect cases of LS in a cost-effective manner.

Healthcare professionals’ endorsement of health screening is important but it also depends on physicians’ knowledge of current guidelines. Furthermore, genetic testing for MMR gene mutations may increase compliance with colon cancer screening recommandations but this implies that MMR gene mutation testing should be offered to individuals who have a high probability of having a risk conferring alteration based on their personal and family history of disease. To avoid confusion, explicit and common guidelines are needed for patient identification, treatment and follow-up.

Primary care physicians and specialists can play an important role in the identification and management of LS and therefore their awareness of guidelines for genetic counselling and testing is important and needs to be supported.

Guidelines for diagnostics and follow-up of Lynch syndrome families in Belgium were proposed and discussed during the General Assembly of FAPA and are available here.