Genetic Screening
Recent advances in molecular
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Recent advances in molecular biology have provided various techniques for the elucidation of genetic disease. Genetic screening involves the systematic search of populations for individuals possessing certain genotypes. The primary goal of screening comprises the enhancement of health through the prevention of disease. Over the past several decades, genetic screening has dramatically altered the overall impact of many conditions. By enabling people to make informed and rational reproductive decisions, it has reduced the incidences of Down' syndrome, neural tube defects, cystic fibrosis, Tay-Sach's disease, and certain of the thalassaemias. In addition, screening has reduced the morbidity associated with such disorders as phenylketonuria, Duchenne muscular dystrophy, and congenital hypothyroidism. However, despite these successes, genetic screening has also given rise to many complex ethical, legal, and social questions. Furthermore, there is abundant historical evidence showing that such programs can actually do more harm than good. Unfavorable attempts at genetic screening include the eugenics movement of the early 1900s and the sickle cell screening programs of the early 1970s. In the future, genetic information could have wide-ranging consequences. Such data might be used, for example, by various institutions including government, the insurance industry, and employers. There obviously exists considerable potential for discrimination against and stigmatization
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tal retardation in affected children.
Despite PKU's relatively low incidence, the discovery of a bacterial growth inhibition assay by Guthrie in 1961 made mass screening possible. Most states have thus made newborn screening for PKU mandatory. More recently, there has been a move towards automation. Such tests may, for instance, employ fluorometric and spectrophotometric analyses. In addition, thin layer chromatography may detect various amino acids in the blood including phenylalanine. Overall, PKU screening programs have been highly successful. Furthermore, this success was achieved despite the fact that, in most cases, PKU screening was initiated before diagnostic and treatment methods for the disease had been firmly established (16:138-144).
A second genetic disease for which newborns are screened is congenital hypothyroidism. Most cases result from either an ectopic (77 percent) or an absent (18 percent) thyroid gland. Newborn infants affected by the disorder are usually asymptomatic. The incidence of congenital hypothyroidism is 1:4000. Treatment with thyroxine prior to 3 weeks-of-age will prevent the development of mental and physical retardation (2:333-342).
A third genetic disorder subject to newb
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Approximate Word count = 5263
Approximate Pages = 21 (250 words per page)
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