Genetic counselling in rare diseases

Abstract

Genetic counselling is a communication process between appropriately trained person(s) and the patient/family members that deals with the occurrence or risk of occurrence of the disease • Genetic counselling aims at providing full understanding of genetic and other aspects of the disease as well as support for coping and decision making related to the disease. • Genetic counselling of rare diseases is optimally based on accurate etiologic diagnosis. • Finding the causative genetic change (e.g. gene mutation) gives a useful tool for carrier testing, prenatal diagnostics and presymptomatic testing in families of the index patient. • There are thousands of rare diseases (occurrence no more than 5/10,000) and numerous different life situations. Thus it is not possible in this chapter to draft a simple model for an ideal genetic counselling session; instead some of the different situations can be illustrated by examples.