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31 yo F requests genetic testing for Huntington disease. She has a close friend who recently had a positive genetic test result for the huntingtin gene mutation.Most appropriate management?

User Oscar
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Final answer:

For a 31-year-old female considering genetic testing for Huntington's disease, the most appropriate management is referral to genetic counseling. Genetic counselors play a crucial role in explaining the nature, implications, and psychological impact of the test results, as well as advising on subsequent healthcare and lifestyle decisions.

Step-by-step explanation:

Management of Genetic Testing for Huntington Disease

The most appropriate management for a 31-year-old female requesting genetic testing for Huntington's disease is to refer her to genetic counseling. Huntington's disease is a neurodegenerative disorder with adult onset characterized by the decline of motor control, cognitive functions, and psychological changes. It is an autosomal dominant condition, meaning that if one parent has the disease, there is a 50% chance that the Huntington allele will be passed to each offspring.

Before undergoing genetic testing, it is essential for the individual to understand the implications of the test results. A genetic counselor can provide comprehensive information regarding the nature of the disease, the likelihood of inheritance, the potential impact on her health, and the risks to future offspring. Moreover, they can discuss the psychological impact of knowing one's genetic status and the steps to take if the test is positive, such as increased surveillance for symptoms or family planning decisions.

Furthermore, genetic counselors can help in assessing other factors such as ethnicity, family medical history, and personal health that may influence the decision to undergo genetic testing and its subsequent results.

User Joepd
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