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.

Trends in the use of second trimester maternal serum screening from 1991 to 2003

“…The purpose of prenatal screening is to maximize reproductive options available, 29 and this goal is best achieved by providing each woman with the best possible estimate of her personal risk for fetal aneuploidy. 30 The current ACMG guideline 2 may have the unfortunate effect of limiting older women's access to screening.…”

A Review of Biochemical and Ultrasound Markers in the Detection of Down Syndrome

“…Practitioners should respect pregnant women's abilities to make educated choices about their prenatal care and support their decisions concerning their pregnancy and unborn child. The aim of genetic screening programs and prenatal diagnosis should be to maximize the options available to families rather than to reduce the prevalence of genetic diseases (Rowley, 1984).…”

Ethical aspects of neonatal screening for sickle cell disease in Western European countries

“…The major benefit for parents of having clear information concerning their future family planning must not mask the problems related to misunderstanding and the risk of stigmatization 11–13. It is often quite difficult for parents to understand the difference between being an asymptomatic carrier of a genetic disease and being affected with the condition.…”