Family Screening and Genetic Counseling

Abstract

In this brief chapter, clinically very important topics of family screening and genetic counseling are discussed that are also pivotal in endocrine genetics. Genetic screening makes possible to diagnose a genetic disease at an early stage or to exclude its presence. Family members have to be screened if a heritable disease is diagnosed. Personal consultation with the patient and the relatives is inevitable in every genetically determined disease. The main function of genetic counseling is the transfer of important pieces of information to the patient about the congenital or later-manifesting diseases. This process via the informed consent should give enough information to the patient and the relatives to make decisions about the disease. Genetic data should be considered as special data; therefore the protection of the personal data and the confidentiality obligation should be prevailed intensively. The chief goal of the genetic counseling is the prevention of the conception or the birth of a person who would suffer from a severe genetic disease and/or to present information of the chance for having an affected descendant. If the prevention is not feasible, the alternative aim is to prevent the development of the consequences or to moderate its severity. Genetic counseling has important ethical aspects such as prenatal genetic investigations; hereditary, but treatable, nonlethal diseases; and genetic diseases that manifest late, predominantly in the adulthood.