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