genetic screening - PHL 116 Genetic Diseases Genetic...

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PHL 116 Genetic Diseases & Genetic Screening– Ethical Issues I. Genetic Diseases A. Definitions 1. Genetic Disease – an inherited disorder or disease in which genes or the ways in which they are expressed are causally responsible for particular biochemical, cellular, or physiological defects. -a person can be heterozygous for a genetic disorder: they may be a carrier of either a dominant or a recessive gene for a genetic disease, but not have the disease themselves. This can be true if the gene is dominant or recessive. -a person can be homozygous for a genetic disorder: if his/her parents are both heterozygous for the disorder: each pass on the gene for the disease to their offspring. As many as 15 million Americans may have moderate to severe genetic disease. There are over 3,500 established and 2,500 suspected hereditary disorders. Nearly every family may include someone who is a potential victim of a genetic disease or is susceptible to a disorder that may be linked to genetic causes—e.g., alcoholism, cancer, or coronary artery disease. Genetic diseases are estimated to account for over one-third of acute-care hospitalization for children under the age of 18. 2. Other Definitions in Munson book: a.) Gene Defect - a defect that arises due to a heritable abnormality in the program of information encoded in DNA or gene or genes that encode the production of a given trait (e.g., an enzyme) are not present – for example there may be a missing gene or a mutation (loss of a gene, damage to a gene, new gene added). Typically gene defects are passed on from offspring to parents and it is possible to trace pattern of disease through generations to potentially stop it in the future. b.) Developmental Defect (congenital) - a defect that arises due to complications during the prenatal developmental process; it occur in the womb as a result of the interplay between genetic and environmental factors; it can result from genetic damage or reading of the genetic code—this could occur from radiation, drugs, chemicals (cigarettes) and nutritional deficiencies. This kind of defect cannot be passed on to the next generation—not inherited (e.g., as a result of alcohol consumption during pregnancy, etc.) c.) Genetic Predisposition - genetic makeup of individuals predisposes them to specific diseases. (e.g., women who carry BRCA1 gene are more likely to develop breast cancer heart attacks, strokes, etc.) but the expression of such diseases is not definite. Many causal factors most likely play a role. d.) Genetic carriers - people who carry either a dominant or recessive gene that can be transmitted to their offspring—some genetic disease, such as Tay-Sachs, results when both parents pass on the recessive gene for the disease to their offspring. People who carry the dominant gene for Huntington’s disease have a 50% chance of transmitting the disease to their offspring.
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3. Genetic Screening – locating and advising people with genetically connected diseases. procedures used to test people in order to determine if they are at risk of either having or
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genetic screening - PHL 116 Genetic Diseases Genetic...

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