Factors in Treating Huntington s Disease Patients

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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. 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. An excessive unintentional movement of a part of the body is a positive sign for HD (Nance, Myers, Wexler, and Zanko, p. 18).

References

Durr, A; Gargiulo, M; Feingold, J. (2012). The presymptomatic phase of Huntington disease.

Revue Neurologique. 168 (11), 806 — 8.

FDA. (2016). Laws, Regulations, Policies and Procedures for Drug Applications. Retrieved

November 10, 2016, from http://www.fda.gov/

Frank, S. (2014). Treatment of Huntington’s disease. Neurotherapeutics. Journal of the American

Society of Experimental Neurotherapeutics. 11 (1), 153 — 60

Harper, P. S., Lim, C., Craufurd, D. (2000). Ten years of presymptomatic testing for Huntington’s disease: the experience of the UK Huntington’s Disease Prediction Consortium. Journal of Medical Genetics. 37(8), 567-71.

Liou, S. (2010). HD basics: The Inheritance of Huntington’s disease. Retrieved November 11,

2016, from http://http://web.stanford.edu/

Mandel, A. (2016). Huntington’s Disease Diagnosis. Medical Life Sciences. Retrieved November

10, 2016, from http://www.news-medical.net/

Nance, M., Myers, R., Wexler, A. & Zanko, A. (2003). Genetic testing for Huntington disease:

Its relevance and implications. Huntington’s Disease Society of America. United States of American, Athena Diagnostics.

Rawlins, M.D. Wexler N.S. Wexler A.R. et al. (2016). The Prevalence of Huntington’s Disease.

Journal of Neuroepidemiology. 46:144-153

Rothing, M., Malterud, K. & Frich, J. C. (2013). Caregiver roles in families affected by Huntington’s disease: a qualitative interview study. Scandinavian Journal of Caring Science. 28(4), 700-705. doi:10.1111/scs.12098.

Porter, J. (2016). Funding opportunities for Huntington’s disease research. Heredity Foundation

Online News Letter. Retrieved November 13, 2016, from http://hdfoundation.org/

Pringsheim, T., Wiltshire, K., Day, L., Dykeman, J., Steeves, T., and Jette, N. (2012). The

incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Movement Disorder Journal. 27(9), 1083-91. doi: 10.1002/mds.25075.

Case Study Part Two: Huntington’s Disease

Describe if chromosomal analysis is/was indicated.

Chromosomal analysis was indicated for confirmation of the diagnoses and issues related to children and grandchildren. The reason why is because Huntington disease, also known as HD [MIM 143100] is dominantly inherited gradually neurodegenerative disorder. It is caused by a mutation; which leads to the expansion of the CAG or polymorphic trinucleotide HTT tract. Normatively, the size of the control CAG among ordinary people should be between 17 and 20 repeats. In HD patients, 1-2 duplicate genes have an expanded GAC tract to at least 36 repeats (Kremer, et al., 1994).The polymorphic trinucleotide tract size can be uneven and is more likely to expand, especially if it is passed on by a male germline. At first, the new rate of mutation for Huntington disease was estimated to be extremely low. The illness only affected those families that had history with HD. Current estimates have discovered that the expansion of CAG into the illness range has become more rampant than predicted earlier. The new rate of mutation may be at least 10% (Warby, et al., 2009).

Many factors are believed to cause CAG instability, such as CAG tract size, interruptions of the CAG tract, age and sex of the parent transmitting it, environmental factors and genetic trans-factors and cis-elements. Though a bigger CAG tract and transmission by a male germline are clearly seen to cause high CAG instability, such trans-factors as machinery for DNA repair are also said to be major contributing factors. For example, the CAG unsteadiness of transgenic mice with HD was saved after it was crossed with other mice lacking MSH2 (MIM 609309) (enzyme for mismatch repair) or OGG1 (MIM 601982) (repair enzyme for base excision). Though it is believed that cis-elements modify CAG unsteadiness in different genes, previous information has stated that cis-elements has no role in CAG unsteadiness in HTT (the HD gene) (Warby, et al., 2009).

Many studies have examined the HD origins coming up with constructing haplotypes meant for the HTT area in specific tribal populations. The research has been conducted on small groups of the allelic markers. This is because besides the CAG, few HTT polymorphisms have been characterized before. Most of the studies discovered positive connections between disease chromosomes and specific markers. They concluded that mutation of the HD comes from the same descent, but not automatically from one founder (Warby, et al., 2009).

Causes of the Disorder.

HD is a dominantly hereditary autosomal disease whose cause is a long CAG repeat found on the shorter chromosome 4p16.3 arm within Huntingtin genes. These genes have huntingtin protein codes and have GAC tracts in exon 1. The wild-type has a repeat of the CAG repeat, with polyglutamine stretch coding in the available protein between 6 and 16. The disease is linked with at least 36 repeats.

Definite clinical appearance occurs if the repeats exceed 40. A range of 36-39 causes incomplete entrance of Huntington’s disease or leads to late onset. At 29-35, there is instability of the intermediate alleles; hence, the alleles are likely to change when reproduction takes place. Duplicating the gene could cause mistakes and in most cases, elongation takes place. The cases of shortening are few. This occurrence mainly takes place in male reproduction (Roos, 2010).

The life span of a Huntington’s disease patient can be categorized into 3 stages: at-risk, A (preclinical) and B (clinical). The first phase; at-risk, ends after it is established if the patient has the increased repeat on CAG on the fourth chromosome. If the patient has the gene, they will be in stages A and B. until the end (Roos, 2010).

Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education.

The interaction between symptomatology (chorea/rigidity) in HD and onset age was studied using information gathered from the Hungtington’s Disease Victims and Families Research Roster. The research showed that the onset age is different among families and between maternal and paternal transmission. It was also found that rigidity is specifically linked with onset at a very young age, paternal transmission, young parental onset and major anticipation. It is suggested that onset age is reliant on the condition of the disease’s locus methylation, which is distinct among familial traits. It is caused by ‘genomic imprinting’, which depends on parental transmission. Early familial onset age and male parental imprinting interact and occasionally produce a great change in expression of the gene; the rigid or early onset variant (Ridley, Frith, Farrer, & Conneally, 1991).

There have been suggestions that genomic methylation differences could be the cause of the variations in onset age observed in HD cases. The parent whose HDD allele the patient inherited determines this, and there is a chance that genomic imprinting differences may also cause symptomatology differences. The later HD onset age in the affected mother’s offspring, in comparison to the affected father’s offspring has been associated with a protective factor, which is maternal. Even though there have been suggestions that that factor may be located in the mother’s mitochondrial DNA, the mother’s genomic imprinting may also contain it (Ridley, Frith, Farrer, & Conneally, 1991).

Consideration for practice

Psychological counselling. Many studies have proven that those people who decide to go through testing are psychologically chosen for a positive response to the test. Those that reported to be possibly suicidal or anticipated depression in case of a positive result had a significantly lower probability of accepting to be tested than those who did not anticipate depression or suicide. The main reasons why people chose not to take the test were based on the psychological and emotional impact of the test coming out positive, like fear of looking for hope to retain symptoms. Other reasons included a higher risk for children in case one was a carrier, lack of a successful cure and possible loss of one’s health insurance. Those with little ego strength may have gone through significant psychological support from these frequent extensive counselling programs prior to and after the test (Meiser & Dunn, 2001).

Patient education

Such programs as Program for Huntington’s disease Patient Education help in improving the life quality for caregivers and patients. They also train and educate them to give them coping strategies for handling psychosocial stressors. Evaluations for anxiety and depression, need for assistance, psychosocial burden, life quality, coping, cognitive, behavioral and motor status were conducted. After the program was completed, there was remarkable improvement of anxiety and behavioral symptoms is seen in manifest Huntington’s disease patients. The coping approach used was less passive, and the social support was increased. Their caregivers stated that the psychosocial burden reduced. Premanifest carriers as well as their partners achieved better coping by looking for more frequent social support (Campo, Spiethoff, & Roos, 2012).

Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.

The gene concerned, the HTT (huntingtin) gene (NM_002111.6; NG_009378.1), which was previously called IT15, is found on the chromosome 4p16.3, with 67 exons, and which spans 180 kb. The huntingtin gene is broadly expressed, and it is needed for people to develop normally. The gene is expressed in two forms, which are alternatively polyadenylated showing diverse relative abundance among different adult and foetal tissues. The bigger transcript is around 13.7 kb. It is predominantly expressed in fetal and adult brain, while the smaller one of around 10.3 kb is expressed more widely (Losekoot, Belzen, Seneca, Stenhouse, & Barton, 2013).

The enlargement of an uneven polymorphic trinucleotide brings about HD; CAG, in exon 1 repeat of the gene HTT, which then leads to a polyglutamine tract extension within the protein. The alleles containing more than 27 repeats of CAG are said to be normal, while those whose CAG repeats are 36 or less are found in HD patients (see Table 1). Currently, the fewest CAG repeats reported in patients that have confirmed clinical HD features is 36. Alleles containing between 27 and 35 repeats (intermediate or mutable normal alleles) are not linked with symptoms of the disease. However, they can enlarge into the problematic range after transmission of a germline that is predominantly paternal and hence cause Huntington’s disease in offspring. CAG repeats between 36 and 39 are partly penetrant. They can be observed in the affected individuals and those that do not show any clinical symptoms at an old age (between 70 and 80 years). The number of CAG repeats inversely correlates with the average onset age of symptoms. In general, individuals who have longer repeats of CAG have earlier onset age. This fact is backed by research results showing that people with extremely large repeats of CAG (less than 60) have juvenile HD, while those whose CAG repeats are shorter (between 36 and 39) remain asymptomatic. Nonetheless, the amount of repeats only accounts for about 70% of the onset age variance. This means that not every case of juvenile HD has 60 CAG repeats (Losekoot, Belzen, Seneca, Stenhouse, & Barton, 2013).

References

Campo, A., Spiethoff, K., & Roos, R. (2012). The Patient Education Program for Huntington’s

Disease (PEP-HD). Journal of Huntington’s Disease, 47-56.

Kremer, B., Goldberg, P., Andre, S., Theilmann, J., &Telenius, H., et al. (1994). A worldwide study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats. New England Journal of Medicine, 1401 — 1406.

Losekoot, M., Belzen, M., Seneca, S., Stenhouse, S., & Barton, D. (2013). EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. European Journal of Human Genetics, 480 — 486.

Meiser, B., & Dunn, S. (2001). Psychological effect of genetic testing for Huntington’s disease.

Western Journal of Medicine, 336 — 340.

Ridley, R., Frith, C., Farrer, L., & Conneally, P. (1991). Patterns of inheritance of the symptoms of Huntington’s disease suggestive of an effect of genomic imprinting. Journal of Medical Genetics, 224-231.

Roos, R. A. (2010). Huntington’s disease: a clinical review. Orphanet Journal of Rare Diseases,

40.

Warby, S., Montpetti, A., Hayden, A., &Carroll, J., et al. (2009). CAG Expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. American Journal of Human Genetics, 351 — 366.

Case Report Part 3: Nutrition and Huntington’s disease

Role of Genetics in Policy

Genetics has taken on an increasingly important role in health care policy. As the World Health Organization (WHO) ( 2016) points out, “policy makers can capture the potential of genomics to meet public health goals through health policy” (p. unknown). In fact, the Human Genome Project research has already transformed policy, and will continue to do so in the future. Genetic research encompasses “screening, prevention, diagnosis, and treatment,” and therefore provides broad-based policy implications (Lea, 2008). Moreover, genetics research is enabling the emergence of personalized medicine, given the ways genetic research reveals individual differences even among patients expressing the same conditions. Genetics research also needs to advance four crucial areas in health care policy and regulations including genetic privacy, regulation and standardization of genetic tests, gene patenting, and education (Ojha & Thertulien, 2005, p. 385). Equitable access to genetics testing and screening and other issues related to structural inequities in healthcare may also need to be addressed within the rubric of genetics and how genetics research advancements impact policy changes (Lea, 2008).

Education and research into human genetics can help promote understanding of disease etiology and other causal factors. Financing issues in genetics research and technology also needs to be addressed with skillfully designed policy (WHO, 2016). Policy may also need to address gaps in public health literacy related to genetic diseases, how to recognize risk factors, and cures for those diseases. Finally, all health care policy must be grounded in sound ethics linked to genomics and the protection of patient data at all costs. Policy needs to account for contingencies like employer or insurer discrimination based on access to genetic data (WHO, 2007). Patenting and ownership of genetics-related data even that related to non-human organisms must also be taken into account with regards to ethical genetics policy. Ethical issues should promote responsible policy, not hinder the evolution of effective policies and programs that stimulate research and development (Raidt, J, 2016).

Nutritional Influences

Body weight and metabolism are seriously affected by Huntington’s disease, making nutrition a key element in disease management. Even when caloric intake is high, patients with Huntington’s disease can occasionally suffer from severe weight loss (Sandler, n.d.). People with Huntington’s disease frequently have a lower than average body weight, but a higher than average calorie need (Huntington’s Disease Society of America, 2010). The exact cause for this symptom of Huntington’s disease is not yet known, and it could be related to genetics. Brotherton, et al. (2012) link the problem to a combination of factors including hypothalamic dysfunction causing increased metabolic rate, faulty protein expression and peripheral abnormalities, feeding difficulties due to problems like xerostomia, or hyperkinetic movement disorder (p. 35). The involuntary movements (chorea) commonly a symptom of Huntington’s disease may also lead to increased need for caloric intake. Regardless of the cause of the problem, patients with Huntington’s disease need to pay attention to diet and nutrition during disease management and care (Sandler, n.d.).

Unfortunately, the disease itself presents many physiological problems that can interfere with eating. The involuntary movements and motor control issues can cause food inhalation, which can lead to infection and death (Sandler, n.d.). Chewing may be a problem for people with Huntington’s disease. The cognitive dysfunctions linked with the disease may also inhibit the patient’s ability to concentrate on eating or enjoy eating (Huntington’s Disease Society of America, 2010). Appetite may also decline due to depression, or the patient may have side effects from medications like constipation or nausea that has an adverse effect on the patient’s willingness or ability to eat. In extreme cases, the patient can be intubated, but ideally, the patient can learn how to adapt his or her environment and manage symptoms so that eating becomes pleasurable (Huntington’s Disease Society of America, 2010).

Nutritional Assessment and Counseling

Adequate caloric intake alone is not a sufficient response to the increased nutritional needs of people with Huntington’s disease. Nutritional assessment will likely need to be ongoing, as the disease is progressive. The Huntington’s disease Society of America (HDSA) (2010) claims “patients at different stages of the disease will have differential needs. The issues related to nutrition and weight loss become more apparent as the disease progresses, too, so monitoring patient weight can provide the means of assessing the progress of the disease” (p. 7). At the onset of the disease, many patients may experience cravings for junk foods, especially those that are high in carbohydrates or sugars. These cravings do not need to be completely stifled, but the patient should be counseled to avoid junk food as much as possible, so that caloric intake comes from a diverse range of nutrient-rich and fiber-rich sources. Drug interactions may also have a bearing on nutritional counseling. When patients are taking MAOIs, for example, foods to avoid include dietary sources of tyramine including aged cheeses, liverwurst, red wine, very ripe fruits (Huntington’s Disease Society of America, 2010). Furthermore, HDSA (2016) makes reference to medication’s effects on diet and nutrition need to be taken into account to individualize a patient’s nutritional counseling.

The diet should ultimately be as balanced as possible, including plenty of fiber, vegetables, and as many plant-based nutrients as possible. Different vegetable families will offer different phytonutrients, and therefore the patient should ideally be counseled to acquire as many different types of vegetables from different families and colors (Huntington’s Disease Society of America, 2010). Care should be taken to avoid hydrogenated oils and other sources of trans fats, favoring instead healthy fats from vegetable oils like olive oil and flax seed oil. As Sandler (n.d.) also points out, “patients in later stages of the disease may need occupational supports with their eating habits, such as offering more soups and other foods that do not require as much chewing” (p. unknown).

Prevalence, Testing, and Treatment

Prevalence of diet and nutrition-related issues specifically related to Huntington’s disease are difficult to estimate due to large gaps in the evidence base, small sample sizes, and other methodological issues (Brotherton, et al., 2012). However, adequate information about testing, treatment, and prognosis related to nutrition remains widely available. Testing can reveal specific nutrient deficiencies. Whether those deficiencies are linked to the disease, to interactivity with medications, or with a comorbid issue, they can be integrated into a nutritional counseling program that helps advise patients and their caregivers as to which foods to emphasize (Rao, Asha, Ramesh & Rao, 2008).

Conclusion-Prognosis Related to Nutrition

The stage of the disease will largely determine the patient’s caloric and nutritional needs. As the disease tends to reveal more severe weight loss issues late in its progression, patients at the middle stages need to increase their intake of healthy fats, and habituate themselves to possible changes to their eating habits fruits (Huntington’s Disease Society of America, 2010). When eating habits can be established at earlier stages of the disease, patients may have less difficulty adapting their diets and their meal habits to suit their needs. According to Mcdoungh and Chesire (2014), “During later stages of the disease, patients may need additional support. Blending foods and other methods of offering calories in a safe and acceptable manner, or even intubation may be parts of the patient’s overall nutrition-related prognosis” (p 82).

References

Brotherton,, A., et al. (2012). Nutritional management of individuals with Huntington’s disease:

nutritional guidelines. Neurodegenetic Disease Management, 2(1), 33 — 43.

Huntington’s Disease Society of America (2010). Nutrition and Huntington’s Disease. Retrieved

November 28, 2016, from http://hdsa.org/wp-content/uploads/2015/04/Nutrition-and-

HD.pdf

Lea, D. (2008) “Genetic and Genomic Healthcare: Ethical Issues of Importance to Nurses.” The Online Journal of Issues in Nursing. 13(1) Manuscript 4.

Marshall, P. A. (2016). Ethical challenges in study design and informed consent for health research in resource-poor settings: Social, economic, and behavioral research. World Health Organization. Retrieved November 28, 2016, from http://apps.who.int/iris/bitstream/10665/43622/1/9789241563383_eng.pdf.

McDoungh and Chesire (2014). Caregiver Guide for Mid-to Late Stage Huntington’s Disease

For Long-Term Care Facilities and In-Home Care Agencies. Retrieved November 29, 2016, from http://hdsa.org/

Ojha, R.P., Thertulien, R. (2005). Health Care Policy Issues as a Result of the Genetic

Revolution: Implications for Public Health. American Journal of Public Health, 95(3): 385-388.

Raidt, J. (2016). Patents and Biotechnology: Executive Summary. U.S. Chamber of Commerce

Foundation. Retrieved November 28, 2016, from https://www.uschamberfoundation.org

Rao, T. S., Asha, M. R., Ramesh, B. N., and Rao, K. S. (2008). Understanding nutrition, depression and mental illnesses. Indian Journal of Psychiatry. 50(2): 77 — 82.

doi: 10.4103/0019-5545.42391

Sandler, S. (n.d.). Nutrition intervention in Huntington’s disease. Retrieved November 28, 2016,

from https://hdsa.org/wp-content/uploads/2015/02/12996.pdf

WHO. (2016). Genomics and policy. Retrieved November 28, 2016, from http://www.who.int/genomics/policy/Genomicsandpolicy/en/

Case Report Part 4: Nutrition and Huntington’s disease

Describe the disease, its prevalence, its incidence and general knowledge of the disease

Huntington’s disease (HD) is classified as a genetic neurodegenerative disorder (Klager & Duckett, 2008). Children have a 50% chance of inheriting the disease from a carrier parent (Klager & Duckett, 2008). Recent estimates place the incidence of HD at about one in every 10,000 individuals in the U.S., meaning that approximately 30,000 people suffer from the disease in this country today (Swierzewski, 2015).

Discuss the laboratory testing that can be done

The gene HTT (HD) is the one that has been confirmed as being linked with Huntington Disease to date (Huntington Disease molecular analysis, 2016). Therefore, laboratory testing to determine the rate of expansion of CAG trinucleotide repeats in HTT can be performed to determine if the rate of expansion equals or exceeds 36 CAG trinucleotide repeats in HTT which can verify a diagnosis of Huntington disease (Huntington Disease molecular analysis; 2016). Describe if chromosomal analysis is/was indicated, and detail the chromosomal change that caused the disease if it is a chromosomal disorder

Researchers have determined that the only mutation observed in Huntington disease cases is a trinucleotide CAG repeat expansion (Huntington Disease molecular analysis, 2016).

Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education

According to Swierzewski (2015), HD is caused by a single abnormal allele being transmitted from a carrier parent to a child in autosomal dominated inherited cases.

Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs

Although the manner in which the mutation of genes affects the function of the protein is not clear (Causes and risk factors, 2016), as noted above, HD is a genetic disease that is inherited from a carrier parent. As also noted above, the HTT mutation, the DNA segment known as a CAG trinucleotide repeat, is responsible for causing Huntington disease (Huntington disease cause, 2016). According to Saey (2010), while HTT mutations have been implicated in the onset of HD, there is also the potential for other genes playing a role in the onset of the disease as well as the manner in which it progresses and research continues concerning how gene mutations in DNA can cause HD and other diseases such as sickle-cell anemia and cystic fibrosis (Saey, 2010).

Examine how genetics can influence policy issues

In what has been termed “genetic exceptionalism,” some disease such as HIV have been singled out by policymakers for special attention concerning the allocation of resources the manner in which they are deployed (Sharp, 2007). In this regard, Sharp (2007) emphasizes that, “As a result of genetic exceptionalism, laws and policies around the world in the areas of informed consent, privacy, patenting and discrimination, have been influenced in different ways and at varying levels” (p. 16). In some cases, genetic exceptionalism results in stigma and discrimination against Huntington disease sufferers, especially since there remains a lack of a specific or curative therapy (Evans & Burke, 2008).

Discuss any nutritional influences for this disease

Patients suffering from HD are typically treated by a multidisciplinary team comprised of a dietitian, a swallowing therapist, and general nursing staff to provide requisite support needed, including intubation in advanced cases (Klager & Duckett, 2008). There are some limitations, involved, though, including the frequently inability to provide HD patients with their favorite foods or snacks, and nonverbal, chair-bound patients tend to suffer the most (Klager & Duckett, 2008).

Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness

Nutritional assessments provided by dietitians can provide the basis for a feeding regimen (Klager & Duckett, 2008). In addition, swallowing therapists assess HD patients’ capacities for different types of foods and textures (Klager & Duckett, 2008). These assessments are then monitored for efficacy and the adequacy of nutritional intake (Klager & Duckett, 2008).

Discuss any ethical considerations for this disease

Although percutaneous endoscopic gastrostomy (PEG) tube feeding can help HD patients receive the amount of nutrition they require, there remains a significant amount of debate concerning the appropriateness of this intervention due to its adverse impact on quality of life, especially for chair-bound, nonverbal patients (Klager & Duckett, 2008). In addition, there are a number of ethical issues involved with the types of genetic testing that are needed to diagnose HD or to predict its potential manifestation in the future. For instance, Denbo (2013) emphasizes that because HD is known to be an inherited condition, an ethical issues arises concerning whether individuals who are diagnosed with HD should advise their families so they will be aware of their potential risk of acquiring the disease. Likewise, clinicians are faced with an ethical dilemma concerning whether to caution family members of their increased risk if the patient is unable or unwilling to do so (Denbo, 2013).

While presymptomatic tests can be performed to determine if individuals are at increased risk for acquiring HD (Huntington Disease molecular analysis, 2016), Shannon (1999) emphasizes that such tests introduce some novel ethical problems. For example, Shannon points out that, “A particular problem is identifying the predisposition for a disease with the actual disease, which causes additional suffering for the individual as well as possibly disqualifying them for insurance” (p. 111). Likewise, presymptomatic testing of young people assumes ethical issues given their increasing ability to make informed choices as they mature when there are no known treatments available for the disease (Shannon, 1999). In addition, ethical issues involving self-esteem, stigmatization, and complex familial relationships are also salient for HD patients (Shannon, 1999).

Compare how genetics can improve care and health outcomes while reducing cost to usual practices

Because there are no treatments available that can change the progress of HD, conventional treatments for the disease consist of pharmacological palliative interventions that are intended to ameliorate the physical and psychological symptoms that are associated with the disease (HD treatments and drugs, 2016). Current pharmacological interventions include the use of Tetrabenazine (Xenazine) and antipsychotic drugs (e.g., haloperidol [Haldol], chlorpromazine, risperidone [Risperdal] and quetiapine [Seroquel]) (HD treatments and drugs, 2016). In addition, other drugs such as amantadine, levetiracetam (Keppra) and clonazepam (Klonopin) can be used to treat the chorea that is commonly associated with HD as well as antidepressants, antipsychotic and mood-stabilizing drugs depending on the patient’s unique circumstances (HD Treatment and drugs, 2016). Each of these medications can have serious side effects, however, and their use requires ongoing monitoring by the treatment team to ensure optimal outcomes are achieved. Other treatments for HD include psychotherapy, speech therapy, physical therapy and occupational therapy (HD treatments and drugs, 2016).

By contrast, genetics at this point in time can improve the care and health outcomes of HD patients while reducing costs compared to usual practices only by identifying those individuals who may be at most risk of acquiring the disease (Kilgore, 2005). As noted above, although testing without some type of available preventive treatment also raises ethical issues (Kilgore, 2005), presymptomatic tests for HD can be performed to evaluate patients’ genotype status to determine if they are at increased risk (Huntington Disease molecular analysis, 2016). In addition, genetic testing provides clinicians with the ability to detect HD in order to allow patients to make informed choices concerning their future marital and reproductive plans (Domaradski, 2015), but genetic testing also introduces some significant ethical considerations as noted above.

Discuss the changes in approaches to care when new evidence warrants evaluation of other options for improving outcomes or decreasing adverse events

Given the progressive nature of the disease and the current lack of a cure, the approaches to care used for HD patients should focus on identifying opportunities to decrease adverse events such as pressure sores, malnutrition or the effects of dementia, especially among elderly sufferers (Ebersole & Hess, 1998). In the event the treatment team determines that HD patients are not receiving adequate nutrition orally, they may opt for a PEG tube regimen (Draper, 2004). Here again, however, this decision should take into account the unpredictability of the disease course which can cause death at any time and the importance of the taste of food for people in the quality of life determination (Draper, 2004).

Create a plan for how you might educate colleagues and/or patients on this genetic disorder

Any plan for educating colleagues and/or patients concerning Huntington’s disease must include the harsh reality that no known treatment has been identified for the condition, but there are palliative interventions available that can be used to treat its symptoms. For this purpose, an instructional plan for Huntington’s disease developed by Markowitz and Dupre (2008) provides a useful framework for educating colleagues and patients about this genetic disorder. The instructional plan includes facts about HD as well as information concerning genetic counseling, DNA testing, and the overarching need for informed consent; in addition, the plan also includes multi-step model concerning the major concepts, principles, and values in ethics and bioethics as they apply to HD (Markowitz & Dupre, 2008).

Perhaps the most important component of a plan for educating colleagues and patients concerning HD is the need for advance directives. In this regard, Klager and Duckett (2008) emphasize that, “Advance directive decision-making has great impact on the quality of life of patients with Huntington’s disease” (p. 76). The progress of the disease is unpredictable and there is always the potential for unanticipated changes in health status of HD patients (Klager & Duckett, 2008). Notwithstanding the unpredictability of the disease’s course, the HD patients typically survive between 15 and 20 years, making quality of life an important issue (Klager & Duckett, 2008). Because many patients lose their ability to speak at some point, especially during the latter stages of the disease’s progress, it is therefore essential to obtain their lucid input concerning their end-of-life choices as soon as possible (Klager & Duckett, 2008). Moreover, many HD patients do not remain at home until their deaths, and advanced directives can help ensure that the preferences of HD patients and their families are known to other clinicians (Klager & Duckett, 2008).

References

Causes and risk factors. (2016). Health Communities. Retrieved from http://www. healthcommunities.com/huntingtons-disease/cause.shtml.

Denbo, S. M. (2013, January 1). Balancing the rights of children, parents and the state: The legal, ethical and psychological implications of genetic testing in children. Southern Journal of Business and Ethics, 5, 188-190.

Domaradzki, J. (2015, January 1). Lay constructions of genetic risk. A case-study of the Polish Society of Huntington’s Disease. Polish Sociological Review, 189, 107-111.

Draper, B. (2004). Dealing with dementia: A Guide to Alzheimer’s Disease and other dementias. Crows Nest, NSW: Allen & Unwin.

Ebersole, P. & Hess, P. (1998). Toward healthy aging: Human needs and nursing response. St. Louis, MO: Mosby.

Evans, J. P. & Burke, W. (2008). Genetic exceptionalism. Too much of a good thing? Medicine 10, 500 — 501.

HD treatment and drugs. (2016). Mayo Clinic. Retrieved from http://www.mayoclinic.org/ diseases-conditions/huntingtons-disease/basics/treatment/con-20030685.

Huntington disease cause. (2016). U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/huntington-disease.

Huntington Disease molecular analysis. (2016). Indiana University School of Medicine. Retrieved from https://genetics.medicine.iu.edu/divisions/diagnostic-genomics/molecular-genetics-services-laboratory/available-tests/huntington-disease-molecular-analysis/.

Kilgore, C. (2005, April). Mutation linked to some cases of Parkinson’s: Identifying gene raises ethical questions about its use in testing, given the lack of preventive therapy. Clinical Psychiatry News, 33(4), 58.

Klager, J. & Duckett, A. (2008, July 1). Huntington’s Disease: A caring approach to the end of life. Care Management Journals, 9(2), 75-79.

Markowitz, D. G. & Dupre, M. J. (2008, September). Begin partnership: Using problem-based learning to teach genetics & bioethics. The American Biology Teacher, 70(7), 421-424.

Saey, T. H. (2010, December 18). Genetic dark matter: Searching for new sources to explain human variation. Science News, 178(13), 18-22.

Shannon, T. A. (1999, March). Ethical issues in genetics. Theological Studies, 60(1), 111.

Sharp, M. (2007, Spring). The effect of genetic determinism and exceptionalism on law and policy. Health Law Review, 15(3), 16-20.

Swierzewski, S. (2015, September 22). Incidence and prevalence of Huntington’s Disease. Health Communities. Retrieved from http://www.healthcommunities.com/huntingtons-disease/overview-of-huntingtons.shtml.

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