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Genetic Testing And Screening Essay

3102 words - 12 pages

There are numerous genetic disorders present in today's society that produce handicaps and threaten longevity. Genetic determinants are at the root of many cases of infertility, miscarriage, stillbirths, neonatal deaths, multiple malformations, retardation in growth and development, mental illness, and mental retardation. Estimates of the problem's magnitude have been made from data provided by the Department of Health, Education, and Welfare, which suggest that genetic factors are involved in one fifth of infant deaths, one fourth of the institutionalized mental retardates, almost one half of individuals with IQs less than fifty, and half of first trimester abortions (Finley 1982). Genetic screening is the systematic search within a population for persons possessing particular genotypes, which are either associated with disease, predisposing to disease, or leading to disease in descendants (Committee for the study of Inborn Errors of Metabolism 1975; Schriver 1980: as cited by Gitzelmann 1982). Genetic screening is a public health measure of the first order not only because of the huge demand for health care information by large numbers of families with affected members, but because despite this challenge it currently affects the lives of thousands of individuals (Gitzelmann 1982; Finley 1982).

Genetic screening is conducted for the same basic reasons as nongenetic screening, and that is for the care of the ill and prevention of disease. There are several goals of genetic screening, which include medical management or treatment, the provision of reproductive information, enumeration, and research. The main goal is medical management or treatment. Unlike traditional management, which is concerned with the treatment of symptoms and the patient's social adjustment, medical management through genetic screening can actually be preventative in nature. It prevents disease manifestation by helping patients cope with environmental conditions in the face of inadequate genetic endowment. This type of screening began in the early 1960's with the screening for phenylketonuria (PKU) and is currently the most widely practiced. Over the years, more tests have been added for other diseases that like PKU could be discovered by simple tests and treated by following a strict diet (Gitzelmann 1982).

The second goal of genetic screening is the provision of reproductive information. Through simple techniques such as serum enzyme determinations and hemoglobin electrophoresis it is possible to identify individuals possessing genes that will cause serious disease in their offspring. Screening is most efficient if it is conducted to discover couples who are carriers of recessive disease inducing genes that can be diagnosed through amniocentesis. Examples of such diseases are Tay-Sachs disease, Beta thalassemia, and possibly sickle-cell anemia. It was specifically the screening for the Tay-Sachs trait, which began in 1971 that became the model for all carrier...

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