Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

Abstract

The foundation for tracing hereditary hypercholesterolaemia performs cascade screening in families of patients with clinically diagnosed familial hypercholesterolaemia with a known mutation, actively approaching first degree and second degree relatives.5 Family members are tested for the known mutation; their cholesterol level is not measured. The test result is communicated only to the person screened (by mail). The foundation is not involved in subsequent treatment or in monitoring follow up.