Genetic Screening: Marvel or Menace?

• Published in: Science (American Association for the Advancement of Science) 1984-07, Vol.225 (4658), p.138-144
• Main Author: Rowley, Peter T.
• Format: Article
• Language: English
• Subjects: Amniocentesis; Bioethics; Biological and medical sciences; Birth defects; Childbirth; Diagnosis; Disclosure; Equipment and supplies; Ethics, Medical; Familial diseases; Female; Fetal diseases; General aspects. Genetic counseling; Genetic Carrier Screening; Genetic diseases; Genetic Diseases, Inborn; Genetic screening; Genetic Testing; Heterozygote; Hospital care; Hospitalization; Human genetics; Humans; Infant, Newborn; Infants (Newborn); Information Dissemination; Insemination, Artificial; Mandatory Programs; Medical genetics; Medical sciences; Metabolism, Inborn Errors - genetics; Neonatal diseases; Neonatal disorders; Neonatal screening; Newborn infants; Occupational Medicine; Personal Autonomy; Phenylketonuria; Phenylketonurias - genetics; Pregnancy; Prenatal Diagnosis; Risk Assessment; Social aspects; Spermatozoa; Tay-Sachs Disease - genetics; Voluntary Programs
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.6729472

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.