GENETIC COUNSELING IN LYNCH SYNDROME
Now that it is possible to delineate the mutation responsible for this disease in some families, it is possible to carry out predictive testing for the condition in families in which the pathogenic mutation has been detected in an affected individual. Such testing should only be offered with a full counseling protocol. Discussions should include providing information about the chances of developing cancer at a given age, and about the possible emotional effects of receiving a positive or a negative result, and the potential implications with regard to insurance and employment (Aktan-Collan et al. 2000). Before using such molecular tests, it is important to be confident of the pathogenicity of the mutation by, for example, the demonstration that it segregates with the disease or has been shown to be pathogenic in other families, and that the nature of the mutation is likely to cause disruption of function.
The ascertainment and counseling of at-risk family members are of great importance and should be encouraged; there is often poor communication between different parts of a family. Genetic registers of families with this disease facilitate the follow-up of affected and at-risk individuals and the ascertainment of other individuals within a family who may benefit from screening