Genetic counselling in disorders of low penetrance

Abstract

Some aspects of genetic health care (non-directive counselling, risk assessment and practical and emotional adjustment to the disorder) are unchanged by the explosion in genetic knowledge. • Three complex disorders: haemochromatosis, neural tube defects, schizophrenia, and their genetic counselling implications are discussed. • The role of genetic services in genetic susceptibility testing is less clear. • Accurate diagnosis, the ability to communicate the risk and precise risk estimation will remain important.