Laboratory screening for genetic disorders and birth defects.

Screening for inherited disease is a preventative health measure that started in the 1960s with the development of programs for the detection of PKU in newborns and that has had a major impact on reducing the burden of disease. Developments in technology have led to the availability of large scale testing for an increasing number of both acquired and genetic disorders. Laboratory testing is only one facet of a screening program and consideration should be given to availability of testing to all individuals, education regarding the program, effectiveness of treatment, long-term benefits both for individuals and society, ethical issues, and cost benefits. In this review, newborn, prenatal, and heterozygote screening are discussed.