Neonatal Tyrosinemia (Nt) in the Eskimo. Result of a Protein Polymorphism?

Cr, Scriver; Perry, Tekla S.; Lasley, Lorey; Clow, Carol L.; Coulter, Paul; Laberge, Claude

doi:10.1203/00006450-197704000-00251

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“…An important contribution toward this end has been made by Scriver and his colleagues who developed a genetics curriculum for Montreal high school students. In the context of learning about genetic differences among normal individuals, high school students had a 75 percent acceptance rate of carrier (Tay-Sachs) testing compared to a 10 percent acceptance rate among adults (50). Conducting genetic screening in public schools requires parental permission in most U.S. communities and can be criticized as risking coercion through peer pressure.…”

Section: Carrier Screeningmentioning

confidence: 99%

Genetic Screening: Marvel or Menace?

Rowley

1984

Science

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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.

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Section: Carrier Screeningmentioning

confidence: 99%

Genetic Screening: Marvel or Menace?

Rowley

1984

Science

View full text Add to dashboard Cite

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Neonatal Tyrosinemia (Nt) in the Eskimo. Result of a Protein Polymorphism?

Cited by 1 publication

References 0 publications

Genetic Screening: Marvel or Menace?

Genetic Screening: Marvel or Menace?

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