Huntington disease (HD) is a neurodegenerative disorder affecting 1 in every 10,000 individuals (Halpin, 2011). Genetic predictive testing is a good option for at-risk individuals to know if they will develop the disease. Therefore in this paper, I will discuss HD genetic testing advancements, as well as the advantages and disadvantages of the test. HD is an inherited neurological disorder that results in involuntary movements as well as cognitive and psychiatric disturbances (Warby et al., 2014). Sadly, HD’s symptoms generally emerge around the age of 40, while more severe cases emerge as early as in the late teenage years (Maiuri, 2013). In 1993, scientists discovered the HD gene on chromosome 4, which encodes for a protein, named “huntingtin”.
…show more content…
According to a study (Wolff et al., 2011), the most important individual predictor to undergo genetic testing was uncertainty avoidance. Consequently, people who have relatives with HD search for resolutions that may possibly reduce their anxiety. Furthermore, another advantage HD genetic testing provides is to help potential parents make cautious productive choices. Asymptomatic individuals, who are carriers of HD allele, are at risk to have a child who will later develop the disease. HD is inherited in an autosomal dominant manner. Therefore, an offspring of an individual with a pathogenic variant unfortunately has a 50% chance of inheriting the disease (Warby, 2014). Finally, an additional advantage genetic testing provides is the possibilities to advance HD research. Though, individuals typically do not get tested for research purposes only. They usually get genetic testing for personal reasons; however, they can then agree to be involved for research in the hopes to help save future lives and find treatments (MacLeod et al., 2013). Still, despite the benefits the test presents, there are also disadvantages to be …show more content…
According to research by Dorsey (2012), over 25% of individuals from families of HD attempt suicide at least once, and 5 to 7% of deaths account for individuals with HD who committed suicide. Further, according to Hubers and colleagues (2012), it is important to assess patients for depressed mood prior to the genetic predictive testing to help identify individuals with increased risk of suicide. Thus, some individuals with Huntington diseased relatives may view the predictive test as a hindrance from enjoying life since it is an incurable
According to a study (Wolff et al., 2011), the most important individual predictor to undergo genetic testing was uncertainty avoidance. Consequently, people who have relatives with HD search for resolutions that may possibly reduce their anxiety. Furthermore, another advantage HD genetic testing provides is to help potential parents make cautious productive choices. Asymptomatic individuals, who are carriers of HD allele, are at risk to have a child who will later develop the disease. HD is inherited in an autosomal dominant manner. Therefore, an offspring of an individual with a pathogenic variant unfortunately has a 50% chance of inheriting the disease (Warby, 2014). Finally, an additional advantage genetic testing provides is the possibilities to advance HD research. Though, individuals typically do not get tested for research purposes only. They usually get genetic testing for personal reasons; however, they can then agree to be involved for research in the hopes to help save future lives and find treatments (MacLeod et al., 2013). Still, despite the benefits the test presents, there are also disadvantages to be …show more content…
According to research by Dorsey (2012), over 25% of individuals from families of HD attempt suicide at least once, and 5 to 7% of deaths account for individuals with HD who committed suicide. Further, according to Hubers and colleagues (2012), it is important to assess patients for depressed mood prior to the genetic predictive testing to help identify individuals with increased risk of suicide. Thus, some individuals with Huntington diseased relatives may view the predictive test as a hindrance from enjoying life since it is an incurable