ABC of Clinical Genetics. Clinical genetic services.

Abstract

Genetic disorders place considerable health and economic burdens not only on affected people and their families but also on the community. As more environmental diseases are successfully controlled those that are wholly or parly genetically determined are becoming more important. Deespite a general fall in perinatal mortality rate the incidence of lethal malformations in newborn infants remains constant. Between 2-5% of all liveborn infants have genetic disorders or congentital malformations. These disorders have been estimated to account for one third of admissions to paediatric wards, and they contribute appreciably to paediatric mortality. Many common diseases in adult life also have a considerable genetic predisposition, including coronary heart disease, diabetees, and cancer.