DNP 810 Topic 5 Case Study: Part 3

DNP 810 Topic 5 Case Study: Part 3

DNP 810 Topic 5 Case Study: Part 3

Case Study 3

How Genetics Influence Policy Issues

Genetics have a significant influence on policy issues. Genetic revolutions have raised the need for the consideration of healthcare policy issues that include genetic privacy, gene patenting, education, and regulation as well as standardization of genetic tests. Over the past few years, there has been a lack of adequate policy to address these issues. For example, a significant variation exists in the legislations adopted by countries to address the issue of genetic privacy. The use of the currently existing genetic tests also faces the challenge of the lack of testing regulation as well as assessment. As a result, not all the tests that are conducted are beneficial for clinical assessment (Glasner & Rothman, 2017). Therefore, policy interventions that aim at strengthening the legislations on these policy areas should be adopted.

Genetics also raises the need for public participation on issues surrounding genetic tests, use, and their significance. Governments have to ensure that the publics are informed about the different issues surrounding genetics. The issues include federal spending on the different genetic studies and the need of or lack of clinician involvement in the direct-to-consumer testing in genetics. Accordingly, public opinion is important since it shapes the policies that should be adopted in undertaking genetic testing. Accordingly, it not only influences the political decisions made by the politicians but also the designing of studies and interactions with patients by the clinicians. Based on this information, genetics influence the adoption of policies that safeguard the interests of various stakeholders in the society (Glasner & Rothman, 2017). An example is the Genetic Information Nondiscrimination Act that was adopted to provide strict oversight on clinical, laboratory, as well as in vitro genetic tests.

Social, Legal, and Ethical Implications of Genetic Testing

Genetic testing is associated with significant social, legal, and ethical implications that healthcare providers and policymakers must consider. Equity is one of the social issues that influence genetic testing in the modern world. Genetic testing should take into consideration the issues of fairness, justice, and equity. However, concerns have been raised on whether genetics will be used for discriminatory practices. In this case, a diagnosis of a genetic disorder in a population should not form the basis of discrimination in the access to the existing social resources. The other social issue arising from genetic testing is its social benefits. Accordingly, genetic testing should promote social wellbeing. The results should be used to inform positive social developments. Despite this, there are concerns genetic testing might act as the basis of violation of ethical principles of safety, informed consent, justice, non-maleficence and benevolence (Pitini et al., 2019). Therefore, it is essential that genetic testing consider these issues.

Genetic testing is also associated with significant legal implications. One of them is the promotion of privacy and confidentiality of genetic data and results. Genetic testing should be conducted with the protection of patient’s privacy. The privacy includes the patient or participant’s ability to provide informed and independent decisions on what and whether others should be informed about their genomic results. Confidentiality must also be promoted by ensuring that sensitive information is only accessed by authorized parties. It includes non-disclosure of the patient’s data. Therefore, healthcare providers, researchers, and institutions of healthcare are required by the law to protect privacy and confidentiality of the data as a way of ensuring safe use of genetic data and results (Quinn & Quinn, 2018). Cumulatively, the above findings demonstrate that genetic testing has ethical implications too. They include the need for the consideration of ethical principles that include justice, privacy, confidentiality, and informed consent and decision-making in genetic testing.

Nutritional Influences for the Cause of Huntington’s Disease

Huntingtin gene (HTT) gene with the expanded CAG repeats causes Huntington’s disease. The HTT gene is found in the liver and is attributed to deficiencies in the urea cycle. The disruption of the urea cycle occurs due to the influence of argininosuccinase acid lyase and arginosuccinic acid synthase enzymes. The activity of these enzymes can be regulated through dietary modification. For example, restriction of dietary proteins has been shown to result in the normalizing of blood citrulline and ammonia levels in Huntington’s disease. The consequence is the minimal aggregation of the HTT genes in the liver, enhanced rotarod activity alongside elevated striatal brain-derived neurotropic factor (Chen et al., 2015). Therefore, these changes reduce incidences of deficiencies in the urea cycle, hence, reduction in the severity of the disease.

Despite the above evidence on the positive influence of restricted protein intake, some dietary interventions have been associated with the development of Huntington’s disease in asymptomatic patients. For example, the consumption of dairy products is attributed to a two-fold rise in the risk of the development of the disease. The risk is attributed to the elevated phenoconversion. There is also the evidence that individuals who consume Mediterranean diet have increased risk of developing Huntington’s disease due to high rate of phenoconversion (Khan et al., 2020). Therefore, nutritional guidance, assessment, and counseling should be utilized to improve the health outcomes of patients suffering from the disease.

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Topic 5 DQ 2
Jul 7-11, 2022
Choose one disorder of malnutrition that is found in your clinical setting or community. What are
the genetic and environmental influences on this disorder, including prevalence rates, testing,
treatment, and prognosis? How can the doctoral-prepared nurse apply this information into
practice? Explain. Support your rationale with a minimum of two scholarly sources.

REPLY TO DISCUSSION

JM
Jennifer Murillo
Jul 11, 2022, 8:23 PM
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Replies to Jennifer Murillo
Recognized as a developmental disorder, cerebral palsy affects individuals at a very young age.
Cerebral palsy can directly impact nutrition because the condition often adversely impacts the
muscles necessary for chewing and swallowing (Aydin et al., 2018). Malnutrition in children with
CP is usually caused by poor oral-motor function, which impairs the child’s ability to consume
calories and nutrients required to support growth (Aydin et al., 2018). Moreover, children need
adequate nutrition when concerning the promotion of both development as well as growth. A
healthy diet also improves energy levels and body functions, which can positively affect
performance during physical therapy (Aydin et al., 2018). Unfortunately, the condition can also
require specific medications, making children lose their appetite or interest in food or water.

Individuals falling within the majority that possess Cerebral Palsy, 93%, will experience feeding
difficulties. Since CP results in impairment of muscle groups, facial muscles can be affected. The
facial muscles are one of the most important muscle groups in the body. Impairment hampers a
child’s ability to chew, suck, or swallow, creating a high risk for undernourishment, failure to thrive,
malnutrition, growth delay, and digestive difficulties (Aydin et al., 2018). Medical professionals may
potentially suggest brain imaging tests, such as x-ray computed tomography (CT scan) or

magnetic resonance imaging (MRI) (Morgan et al., 2019). In addition, an electroencephalogram
(EEG), genetic testing, metabolic testing, or a combination of these might also undergo enactment
(Morgan et al., 2019). Moreover, in a generalized manner, CP undergoes diagnosis during the first
or second year after birth. Furthermore, primary treatment options for cerebral palsy are
medication, therapy, and surgery (Morgan et al., 2019).

Cerebral palsy treatment aims to manage symptoms, relieve pain, and maximize independence to
achieve long, healthy life (Novak et al., 2017). When the life expectancy of those with CP, this
specific life expectancy undergoes calculations in which a child’s condition severity is considered.
Mobility issues, intellectual disabilities, vision/hearing impairments, etc., all impact the lifespan of
those with CP (Novak et al., 2017). Most children with milder forms of cerebral palsy have average
survival times similar to those of the general population. However, multiple impairments may also
lower cerebral palsy life span. According to Dr. Ananya Mandal, children with mild cerebral palsy
possess a heightened likelihood (ninety-nine percent chance) of living to 20 years old (Novak et
al., 2017). The two factors that have the most significant impact concerning a child’s lifespan with
the inclusion of cerebral palsy are addressed to be intellectual and motor developmental
challenges (Novak et al., 2017). As these impairments undergo an increase in severity, a child’s
life expectancy can see a decline.

The importance of DNP-prepared nurses recognizing and managing cerebral palsy’s many
significant comorbidities is as vital as treating motor disabilities and working with the patient’s
families to adjust diet, nutrients, and supplements to contribute significantly to an individual’s
overall health. Recent advances in understanding cerebral palsy include new ways of thinking
about disability, casual pathway recognition, and improvements rooted in measurement,
classification, and prognostication (Novak et al., 2017). Challenges entail family as well as child
well-being, tackling the lifelong issues faced by individuals with cerebral palsy, as well as the
persisting need for tertiary, secondary, as well as primary prevention of the impact that cerebral
palsy contributes regards to the daily livelihoods of others (Novak et al., 2017). With most
individuals with CP reporting feeding or digestive difficulties, a dietary counseling program can be
highly beneficial.

References
Aydin, K., Akbas, Y., Unay, B., Arslan, M., Cansu, A., Sahin, S., … & Sarioglu, A. A. (2018). A
multicenter cross-sectional study to evaluate the clinical characteristics and nutritional status of
children with cerebral palsy. Clinical Nutrition ESPEN, 26, 27-34.

Morgan, C., Romeo, D. M., Chorna, O., Novak, I., Galea, C., Del Secco, S., & Guzzetta, A. (2019).
The pooled diagnostic accuracy of neuroimaging, general movements, and neurological
examination for diagnosing cerebral palsy early in high-risk infants: a case-control study. Journal
of clinical medicine, 8(11), 1879.

Novak, I., Morgan, C., Adde, L., Blackman, J., Boyd, R. N., Brunstrom-Hernandez, J., … & Badawi,
N. (2017). Early, accurate diagnosis and early intervention in cerebral palsy: advances in
diagnosis and treatment. JAMA pediatrics, 171(9), 897-907.

Nutritional Assessment and Counseling

Adequate nutrition is important for patients suffering from Huntington’s disease. Patients are often wasted and underweight for their

age and height. Their being underweight requires that they take more calories in their diets when compared to their daily intake to meet the energy needs due to their physical activity. It is therefore important that these patients be assessed on a regular basis to determine their nutritional needs. Nutritional assessment should focus on multiple aspects. They include their eating habits and patterns since the disease can interfere with their eating. The assessment should also determine the severity of dysphagia using relevant tools such as the Swallowing Disturbance Questionnaire (Domino et al., 2019). The patient also needs observation for any signs of food aspiration upon consuming liquid foods.

Nutritional counseling plays a critical role in the promotion of health of patients suffering from Huntington’s disease. Patients should be educated on the importance of adequate nutrition to overcome the risks of malnutrition and its associated morbidities. Patients should be counseled on the need to take food that supplies at least 25 to 35 kcal.kg/day’s total energy. The ratio of carbohydrates and fat in the diet should remain normal as in the case of healthy beings. The patient should also consume animal protein, with the diet supplying proteins ranging between 0.8 and 1.5 g protein.kg/day (Essa et al., 2018). However, the dietary needs are revised based on the different stages of the disease in patients.

Prevalence Rates, Testing, Treatment, and Prognosis

The prevalence rate of Huntington’s disease due to nutritional causes remains unknown. However, it is estimated that about 5 to 10 people are affected by it in a population of 100,000 people. Global statistics reveal that about 189700 people are affected by the disease globally (Rodríguez-Quiroga et al., 2013). Genetic testing is often done to diagnose an individual with Huntington’s disease. A direct genetic test is done to count the number of the CAG repeat strains in the genes of the disease. A diagnosis is confirmed with the presence of at least 36 CAG repeats in the gene. The treatments that are used in Huntington’s disease depend largely on the symptoms that the patient present with to the hospital. Chorea, akathisia, and rigidity are treated with drugs that include tetrabenazine and neuropletics. Dystonia is treated with physiotherapy to maintain motion of joints. Myoclonus is treated with clonazepam, levetiracetam, and benzodiazepines. Balance disorders are managed with physiotherapy interventions while bruxism is treated with the injection of botulin toxin into masseter muscle (Bachoud-Lévi et al., 2019). The symptoms of Huntington’s disease worsen over time. The worsening is attributed to the progressive nature of the disease. However, it is estimated that people with the disease have a lifespan of about 15 to 25 years when diagnosed with it.

References

Bachoud-Lévi, A. C., Ferreira, J., Massart, R., Youssov, K., Rosser, A., Busse, M., … & Squitieri, F. (2019). International Guidelines for the treatment of Huntington’s Disease. Frontiers in neurology, 10, 710.

Chen, C. M., Lin, Y. S., Wu, Y. R., Chen, P., Tsai, F. J., Yang, C. L., … & Soong, B. W. (2015). High protein diet and Huntington’s disease. PLoS One, 10(5), e0127654.

Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (2019). The 5-minute Clinical Consult 2020. Lippincott Williams & Wilkins.

Essa, M. M., Manivasagam, T., Justin-Thenmozhi, A., & Hamid, Q. A. (2018). Food for Huntington’s disease. Nova Science Publishers, Inc..

Glasner, P., & Rothman, H. (2017). Splicing Life?: The New Genetics and Society. Taylor & Francis.

Pitini, E., D’Andrea, E., De Vito, C., Rosso, A., Unim, B., Marzuillo, C., … & Villari, P. (2019). A proposal of a new evaluation framework towards implementation of genetic tests. PloS one, 14(8), e0219755.

Khan, H., Ullah, H., Tundis, R., Belwal, T., Devkota, H. P., Daglia, M., … & Du, M. (2020). Dietary Flavonoids in the Management of Huntington’s Disease: Mechanism and Clinical Perspective. eFood, 1(1), 38-52.

Quinn, P., & Quinn, L. (2018). Big genetic data and its big data protection challenges. Computer law & security review, 34(5), 1000-1018.

Rodríguez-Quiroga, S. A., Gonzalez-Morón, D., Garretto, N., & Kauffman, M. A. (2013). Huntington’s disease masquerading as spinocerebellar ataxia. Case Reports, 2013, bcr2012008380. doi: 10.1136/bcr-2012-008380.

DNP 810 Topic 5 Case Study: Part 3

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 3. Use an example from your own personal practice, experience, or own personal/family; however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment. Examples might include a patient with Duchesne’s muscular dystrophy, Huntington’s disease, Down’s syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or other genetic disorder that you and/or the organization you practice in may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

• This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
• Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
• This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
• You are required to submit this assignment to LopesWrite. Refer to the LopesWrite Technical Support articles for assistance.

Directions:

For this assignment (Part 3 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-5.

Include the following:

1. Examine how genetics can influence policy issues.

Case Study: Part 3

Most diseases have a genetic component, including common chronic diseases like heart disease, cancer, and diabetes. Various genetic and environmental factors influence these conditions. Huntington’s disease (HD) is a genetic disorder passed on as an autosomal dominant trait during conception. HD manifests as a movement disorder characterized by neurologic and behavioral clinical manifestations that usually become apparent from 30 to 50 years and worsen in the next one to two decades of a person’s life (McColgan & Tabrizi, 2018). The purpose of this paper is to discuss the influence of genetics on policy, nutritional influences in HD, and the nutritional assessment and counseling process.

How Genetics Can Influence Policy Issues

The genetic composition of a single disease and a person’s genetic makeup guide clinical decision-making. We are currently in a period where specific genetic knowledge has become crucial to effective health care delivery. When no therapies are available, genetic tests are used to prevent an affected child’s conception or birth (Chapman et al., 2020). However, genetic tests have led to various policy issues and advocacies on the need for policies to regulate genetic testing. The current genetic policies do not guarantee that adequate data on the predictability of genetic tests will be obtained before they get into clinical practice (Ruhl et al., 2020). They do not also assure that high laboratory quality will be maintained once tests are utilized clinically, and that genetic test results will benefit individuals who are tested.

Genetic tests have been associated with adverse social consequences like discrimination and breaches of confidentiality, which are barriers to testing. This has influenced the development of policies to minimize these consequences to promote a wide acceptance of genetic tests. Besides, there has been a demand for the enactment of government policies to promote the safe and effective implementation of genetic tests (Ruhl et al., 2020). Furthermore, genetics has influenced policy with laws being developed requiring laboratories conducting genetic tests to have special quality assurance procedures. The US Task Force on Genetic Testing advocates for a policy that requires health organizations to invent new genetic tests to present to institutional review boards, protocols for determining the clinical validity, including sensitivity and positive predictive value, and utility of the test (Chapman et al., 2020). Genetic testing has also led to policies issues on the need to have healthcare providers being mandated to provide quality pretest and post-test education and counseling to patients

1. Discuss any nutritional influences for the cause of this disease.

HD is an autosomal dominant hereditary disorder, and no nutritional causes have been identified as causes of the disease. Nonetheless, patients with HD develop motor, cognitive, psychiatric, and communication problems, necessitating consideration of nutritional factors. Christodoulou et al. (2020) explain that micronutrients like vitamin C, D, and E, are vital elements usually needed in small amounts. They are essential in maintaining physiological function, promoting good health, and the growth and development of a person. Studies have established the importance of micronutrients like vitamin C, vitamin E, flavonoids, and carotenoids as exogenous antioxidants that can eliminate free radicals that cause neurodegeneration.

Macronutrients, including carbohydrates, proteins, and fats, are essential for maintaining normal human body functions, including neuronal health. For instance, fatty acids curb the risk of developing cognitive impairment and dementia. Studies have shown the positive impact of the Mediterranean Diet (MD) on neurodegenerative disorders (Christodoulou et al., 2020). Persons who adhere to the diet have a lower incidence of dementia and Alzheimer’s since MD has beneficial effects in decreasing cognitive decline. Poor nutrition significantly affects functioning in patients with neurological conditions (Christodoulou et al., 2020). Thus, it is crucial to ensure optimal nutrition in patients with HD so that these difficulties are not worsened by poor diet.

1. Discuss the process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
2. Discuss the prevalence rates, testing, treatment, and prognosis as they relate to human nutrition.

It may be possible to earn portfolio practice immersion hours for this assignment. Enter the following after the references section of your paper:

Practice Immersion Hours Completion Statement DNP-810

I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I also have tracked said practice immersion hours in the Typhon Student Tracking System for verification purposes and will be sure all approvals are in place from my faculty and practice mentor.

Environmental considerations affect the quality of life, health years, and health disparities. Any physical, chemical, or biological factors external to an individual as defined by the World Health Organization (Thomas, 2016). Protecting a person’s environmental health is the prevention or control of injuries and disabilities that may occur due to their interactions with these environmental factors. Thus, the control or maintenance of the hygiene of the environment will increase the quality and the years of life. Specific environmental factors include exposure to hazardous materials in air, water, soil, and food, natural and technological disasters, climate change, and occupational hazards. If controlled, they may reduce the probability of exposure and disease (HealthyPeople.gov, 2020). Hence, including information on environmental influences in a health and physical assessment gives practitioners a more overall picture of a person’s risk for developing diseases when viewed in combination with genomic influences.

DNP nurses can integrate environmental information and the genomic influences of physical and health assessment in the patient care plan. Armed with environmental and genomic information, the DNP nurse can assist the patient by recommending environmental modifications to positively impact their health, illness, or disease. They can steer patients towards changes in their environmental relationships that will support their health.

Reference

Environmental conditions. Environmental Conditions | Healthy People 2020. https://www.healthypeople.gov/2020/topics-objectives/topic/social-determinants-health/interventions-resources/environmental

Thomas, A. (2016). Environmental Public Health Week. Environmental Health Review, 59(4), 112–112. https://doi.org/10.5864/d2016-030