Genetic Testing and Disease Term Paper

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Huntington's disease (HD) was the first autonomic dominant disorder for which genetic prediction became possible" (Harper, et al., 2000, Journal of Medical Genetics, p. 567). HD is a disease that occurs due to an inherited disorder leading to the death of brain cells. A diagnosis of HD is accomplished through genetic testing which can be implemented at any age regardless of whether the symptoms manifest or not. Although, the specific symptoms vary between people, nevertheless, symptoms can start with people between 35 and 45 years of age and can also start in some individuals at even anearlier age. The disease may affect successive generations if health interventions are not implemented (Mandel, 2016).

Additionally, "the cause of HD is due to a dominant mutation of autosomal form of the gene called Huntington. This shows that a child born by an affected person has a 50% chance of developing or inheriting the disease" (Liou, 2010, paragraph 2). Typically, "Huntington genes manifest from genetic information. Moreover, the expansion of cytosine-adenine-guanine in Huntington protein leads to an abnormal protein that gradually damages the brain through an unknown mechanism" (Liou, 2010, paragraph 10).

Case Presentation

Marilyn is a forty-five-year-old nurse, whose father was diagnosed with HD at the age of forty-two. She had been having some subtle difficulty withmental abilities and mood. However, she did not think anything about these issues until she started having problems with jerky movements while writing. Thus, realizing that HD is a hereditary genetic disorder, and "if a parent has the gene, each son or daughter has a one in two (50/50) chance of inheriting HD" (Liou, 2010, paragraph 2). Marilyn became concerned about the possibility of a familial connection to HD through her father.Now, Marilyn must find a way to discuss this with her daughter.

Incidence and Prevalence

A review of HD shows that its prevalence varies across the world. There is a very low prevalence of HD among black people in South Africa with 0.5 per 100,000 people and 1.84 per 100,000 among people in Zimbabwe. Nonetheless, the prevalence of HD is higher among people in North America with 6.37 per 100,000 among African-American and 4.9% among whites. However, a low percentage of HD prevalence has been recorded in Japan, Hong Kong, and Taiwan due to an inadequate diagnosis of the disease. (Rawlins, Wexler, Wexler et al. 2016).

For example, existing prevalence for HD in Asia is 0.42 per 100,000. In Western Europe excluding the UK, the prevalence rate is 0.53 per 100,000. However, the prevalence rate is high among Caucasian populations in the UK, and Australia, which are 9.71 per 100,000. (Rawlins, Wexler, Wexler et al. 2016). Typically, a reduced mutation among East Asian people has been responsible for their lower prevalence rate. Yet, the prevalence rate has increased by more than two folds among people in the United Kingdom between 1990 and 2010. Moreover, there is 15-20% inHD prevalence rate in Australia, North America, and Western Europe between 1930 and 2012. (Rawlins, Wexler, Wexler et al. 2016).

A rise in the HD prevalence in North America, Australia, Western Europe and the United Kingdom has been attributed to high rates of diagnosis since physicians have a better knowledge of the disease leading to an increased rate of diagnosis among older adults. Pringsheim, Wiltshire, Day, Dykeman, Steeves, and Jette (2012) support the argument of the previous author by pointing out that HD is low among Asians compared to people in North America and Western Europe where there is a high prevalence of HD. Furthermore, "although there is an unusually rare juvenile form of the condition, HD usually presents in early middle life with abnormal movements (particularly chorea) together with psychiatric symptoms including psychosis, depression, and obsessive-compulsive disorder together with progressive cognitive impairment." (Rawlins, Wexler, Wexler. et al. 2016 p 144).

Reasons behind the FDA Regulations for Pharmaceutical Policy and HD

The goal of Food and Drug Administration (FDA) is to enhance the efficacy of a drug and ensure that the health benefits of the drug outweigh the risks.

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The FDA introduces the pharmaceutical policy to evaluate a new drug before it is being sold to the public the policy is to provide wise information for patients and doctors about the drugs (FDA, 2016). This is especially true of drugs being used for treatment of HD. A drug company that intends to sell drugs that focus on the treatment of HD must test the drug to ascertain that it is working effectively.

It is the policy of the FDA to further test the drug to ascertain that the drug is effective and safe for its intended use. Moreover, a team of chemists, physicians, statisticians, and pharmacologists reviews the company data before proposing the labeling. If the health benefits of the new drugs outweigh the risks, the drug will be approved for sales. This policy is implemented to enhance safety effectiveness and quality of drug in the United States (FDA, 2016).

Roles of Money and Grants in Scientific Advances

In the United States, grants and money play an important role in the scientific advances related to disease such as HD because these grants assist people who have money to pursue a scientific research to come out with new things that will be beneficial to the society. One source of funding for HD is offered through the Heredity Disease Foundation. Porter (2015) writes "the mission of the Hereditary Disease Foundation (HDF) is to cure Huntington's disease (HD). Through our Milton Wexler Interdisciplinary Workshops we bring together leading scientists to brainstorm new ways to tackle HD, and through our grants, fellowships, and contracts we support innovative research to find treatments and cures" (paragraph 5).

Roles and Involvement of family in Health Care Decision

Marilyn's family will play an important role in healthcare decisions; especially when it involves an inherited disease such as HD. Rothing, Malterud, and Frich (2013) concluded

"Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how to care for and support individuals in their role as family members and caregivers in different stages of the disease and family life cycle" (p. 700).

For example, Marilyn's daughter may become responsible for making decisions about the healthcare of her mother as the disease progresses. Furthermore, this will possible reshape the mother-daughter role as many diseases about care will be made.

Laboratory Testing for HD

Medical diagnosis must be initiated after Marilyn first notices symptoms possibly related to HD. This testing can be completed to confirm the presence of HD. There are various methods of laboratory testing are available to confirm Huntington's disease in individuals. The clinical brain testing is one of the tests for the HD. The test consists of scanning the patient's brain to detect the presence of caudate nuclei, generalized cortical atrophy, and lateral ventricles. Typically, a psychological examination combined with physical examination can assist in determining the onset of the disease.

Genetic testing for HD's presence consists of a blood test, and a positive result of 40 or more CAG affirms that the person may have HD (Frank, 2014). However, a positive result is not a diagnosis, and only shows that the person has the 50% chance of developing HD, and the risks may go up to 100%. However, the risks of developing the disease increases with age and 60% change of the developing the HD at the age of 65, and 70% of developing the disease at the age of 75 and above.

Presymptomatic testing, also known as predictive testing can also be used for HD. Itcan be a bit more complicated compared to other diagnostic testing. It consists of testing other illnesses that HD influences. These include familial Alzheimer's, polycystic kidney disease, and breast cancer......

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