Essay on Genetic Risks

Essay on Genetic Risks

Seeking genetic testing can be intimidating for many, and potentially life altering. Jonathan, age 50, is faced with this reality when he is diagnosed with Huntington’s disease (HD), a devastating genetic disorder that causes a progressive breakdown of nerve cells in the brain, which results in deterioration of such affected person’s physical and mental abilities. (1) The appearance of HD’s symptoms, their severity, and the age of onset are highly variable, depending on the number of times a DNA segment known as the CAG (cytosine–adenine–guanine) trinucleotide repeats. (2)  When Jonathan’s genetic counselor, Karen, seeks his consent to disclose this diagnosis to his daughter Sarah who is 25, he refuses to allow her or anyone else on the medical staff to reveal this information. In this case of ethical, moral and legal responsibility, it is important to identify the relevant goals, rights, and duties of each of the parties.Though communication within families about genetic risk is critical, it is essentially Jonathan’s right to choose whether or not to disclose such information with outside individuals. He is protected under  The Health Insurance Portability And Accountability Act (HIPAA), a legislation which provides security provisions and data privacy, in order to keep patients’ medical information safe. (3) Though he is not legally obligated to share his current health status, it is reasonable to account his goals in the process. Those of which may depend on what he perceives to be the risks and benefits of doing so, his sense of responsibility to family members and emotional readiness to disclose such information. It can be said that Jonathans duty as a parent consists of keeping best interest for his daughter and the future generation of his family. Huntington’s disease is inherited in an autosomal dominant fashion, and the child of an affected parent has a 50% chance of inheriting the expanded gene that causes the disease. (1) This means that he is putting his daughter at risk for potentially passing the faulty gene to possible future children uninformed, if she is as well affected. This is relevant because she is at prime childbearing age, giving a valid objective for her right to know.Furthermore into the goals, rights and duties of Sarah, an important factor to take into consideration is the matter of HD having the current absence of an effective treatment or cure. (1) Though she is considered at risk, she may not see the benefit in knowing that she could someday develop the disease regardless of procreation plans. If this is the case, learning something such as this could be incredibly detrimental and lower her quality of life, which is presumably a goal of hers. Either way, it is her right to be well informed in order to make responsible future family plans.As of Karen, she is certainly posed with a dilemma in this instance. She is faced with choosing between an ethical obligation and a legal requirement. As stated before, HIPAA protects Jonathan’s decision to keep his diagnosis private, leaving Karen compelled to comply. Though, a current goal of hers to help the family can be accomplished by clearly informing Jonathan about the risks involved, discussing the value of disclosure and offering assistance.In conclusion, there may not be an apparent  right choice, but laying out the reality and cause of each side as of Jonathan, Sarah and Karen can lead to a responsible and consciously weighted decision of disclosing such results in an attempt to produce the best interest of the family’s future generation.


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