The Ethical Dilemmas of Genetic Testing for Huntington's Disease
The Ethical Dilemmas of Genetic Testing for Huntington's Disease
INTRODUCTION Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct un-coordination, loss of voluntary muscle contraction, and cognitive deficits, leaving them unable to walk, talk, move, or think independently (Walker, 2007 and Harmon, 2007). In general, more abnormal genetic repeats on the patient's chromosome correlate to an earlier onset and faster progression of HD symptoms (Harmon, 2007). There is no cure at this time for HD; rather, care for its symptoms is purely supportive. However, a predictive genetic test is available to determine if patients carry the abnormal genetic repeats (Walker, 2007). To date, only approximately five percent of patients who are potentially at risk for HD choose to pursue this test (Harmon, 2007).
PROBLEM DEFINITION With the advent of genetic testing and predictive screening exams, scientific technology has made it possible for patients to peer into their futures. These advances place physicians and researchers in a tough position. Disclosure of this genetic information places patients at risk for discrimination and loss of healthcare benefits. However, this information may also help patients plan future relationships and goals. Each child of a patient with HD has a 50% chance of inheriting the abnormal gene and thus developing HD (Terrenoire, 1992).
INTRODUCTION Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct un-coordination, loss of voluntary muscle contraction, and cognitive deficits, leaving them unable to walk, talk, move, or think independently (Walker, 2007 and Harmon, 2007). In general, more abnormal genetic repeats on the patient's chromosome correlate to an earlier onset and faster progression of HD symptoms (Harmon, 2007). There is no cure at this time for HD; rather, care for its symptoms is purely supportive. However, a predictive genetic test is available to determine if patients carry the abnormal genetic repeats (Walker, 2007). To date, only approximately five percent of patients who are potentially at risk for HD choose to pursue this test (Harmon, 2007).
PROBLEM DEFINITION With the advent of genetic testing and predictive screening exams, scientific technology has made it possible for patients to peer into their futures. These advances place physicians and researchers in a tough position. Disclosure of this genetic information places patients at risk for discrimination and loss of healthcare benefits. However, this information may also help patients plan future relationships and goals. Each child of a patient with HD has a 50% chance of inheriting the abnormal gene and thus developing HD (Terrenoire, 1992).
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