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Genetic Counseling - Essay Example

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Genetic counseling involves professional advice to victims and potential victims of a genetically transmitted disorder, of the nature of the disease, a person’s risk factors, potential of transmitting it to other people and management initiatives. This paper seeks to adopt a…
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Genetic Counseling
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Genetic counseling Genetic counseling involves professional advice to victims and potential victims of a genetically transmitted disorder, of the nature of the disease, a person’s risk factors, potential of transmitting it to other people and management initiatives. This paper seeks to adopt a genetic counselor’s role, to explain to a couple whose child is suffering from Tay-Sachs disease, though neither have they been tested for the disease nor have reported cases in their families, of the scope of the disease and possible implications to their future children.
Tay-Sachs is hereditary problem and impairs a child’s brain and its directly associated organs. A victim child for example loses sight, cognitive ability, and ability to respond to the environment. It is caused by the child’s body’s inability to secrete “hexosaminidase-A” enzyme that leads to excessive accumulation of lipids in brain cells (Genome, 2011, p. 1). The disorder can be detected from a child’s physical and cognitive deterioration such lost sight and hearing, “dementia, seizure, and an increased startle reflex to noise” (Ninds, 2011, p. 1). There is currently no treatment for the disorder though supportive care may temporarily sustain a victim’s life. Victims however die before attaining five years (Ninds, 2011). Identification of the disease in a child means that both parents recessively have the disorder. This however only implies a 25 percent chance of having a sick child because the disease is only effective if a child receives dominant defective genes from both parents (Ncbi, 2010).
Even though the disease has no treatment, parents who are both carriers still have a 75 percent chance of giving birth to a healthy child.
References
Genome. (2011). Learning about Tay-Sachs disease. National Human Genome Institute. Retrieved from: http://www.genome.gov/10001220
Ncbi. (2010). Tay-Sachs disease. PubMed Health. Retrieved from: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
Ninds. (2011). NINDS Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke. Retrieved from: http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm Read More
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