Genetic screening: marvel or menace?

Abstract

Genetic screening is a systematic search in the population for persons of certain genotypes. The usual purpose is to detect persons who themselves or whose offspring are at risk for genetic diseases or genetically determined susceptibilities to environmental agents. Is genetic screening a marvel about to free us from the scourge of genetic disease or a menace about to invade our privacy and determine who may reproduce? There are three different types of genetic screening. Newborn screening identifies serious genetic disease at birth, permitting prompt treatment to prevent mental and physical retardation. Fetal screening and prenatal diagnosis identify genetic disease in the fetus permitting selective termination of pregnancy and the opportunity to have children free of defects detectable in utero. Carrier screening identifies individuals heterozygous for a gene for a serious recessive disease who may be at risk for affected offspring. The challenge to society is to provide (by way of cost-effective programs) expert services, including genetic counseling and follow-up, to all who may benefit, to ensure confidentiality and freedom of choice, and to avoid misunderstanding and stigmatization. It is recommended that the objective of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic diseases. Whenever possible, the providers of these services should be the providers of primary health care. Urgently needed are a greater awareness of avoidable genetic diseases on the part of primary care providers and efforts to familiarize the public with the basic concepts of human genetics through the public school system.

KIE: In a review of the three principal categories of genetic screening--newborn, fetal, and carrier, Rowley describes the development and current status of each, as well as the ethical, legal, psychological, and social issues involved. He briefly considers the special cases of genetic screening of industrial employees and of semen donors. He recommends that the goal of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic disease. To accomplish this goal, he urges public and professional education on human genetics, research on the best delivery mechanisms for current technologies, and the clarification and coordination of the roles of health care providers, voluntary organizations, and government agencies.