DNP-810A EMERGING AREAS OF HUMAN HEALTH

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DNP-810A EMERGING AREAS OF HUMAN HEALTH

Case Study – Cumulative: Part 4

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 5. Use an example from your own personal practice, experience, or own personal/family (however, simulated cases are not acceptable for practice immersion 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 another genetic disorder that you or the organization you practice in may specialize in treating.

General Requirements:

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

  • Doctoral learners are required to use APA style for their writing assignments.
  • This assignment requires that at least three additional scholarly research sources related to this topic and at least one in-text citation for each source be included.
  • You are required to submit this assignment to LopesWrite for similarity score and plagiarism. DNP-810A EMERGING AREAS OF HUMAN HEALTH

Directions:

For this assignment (Conclusion of the Case Study), include Parts 1-3 of the Case Study in one document, combined with additional genetics information learned from the assigned readings from all course topics. This assignment is a cumulative combination of selected portions of Parts 1-3 and Part 4. Make sure you have incorporated any faculty feedback received from previous reports.

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Parts 1-3: (ATTACHED).

Do not simply copy/paste entire case reports from Parts 1-3 (ATTACHED). Create a document including only the following areas from previous case reports:

  1. Describe the disease, its prevalence, its incidence, and general knowledge of the disease.
  2. Discuss the laboratory testing that can be done.
  3. Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder.
  4. Describe the disorder in terms of its origin as either a single gene inheritance or a complex inheritance and considerations for practice and patient education.
  5. Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
  6. Examine how genetics can influence policy issues. DNP-810A EMERGING AREAS OF HUMAN HEALTH
  7. Discuss any nutritional influences for this disease.
  8. Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.

Part 4:

In addition, this cumulative case study must include the following:

  1. Discuss any ethical considerations for this disease.
  2. Compare how genetics can improve care and health outcomes while reducing cost to usual practices.
  3. Discuss the changes in approaches to care when new evidence warrants evaluation of other options for improving outcomes or decreasing adverse events.
  4. Create a plan for how you might educate colleagues or patients on this genetic disorder.

Down Syndrome- A Case Study: Part II

Introduction

Genetic disorders can be a handful if not properly handled. During my internship at my local healthcare facility, I was more intrigued by the lack of adequate Family Health History (FHH) communication networks as it is a strong predictor of the risks associated with the disease. It is also useful for guiding preventive care. This case study aims to illuminate the importance of FHH and FHx tools in guiding the treatment of Down Syndrome. I specifically focus on the prevalence of Down Syndrome within society and the rudimentary treatment processes that are used to treat the disease.

Chromosomal Analysis

To effectively establish the prevalence and incidences of acute and genetic disorders, most healthcare centers allocate a laboratory for running chromosomal analysis of incoming patients. One of the most common diagnostic tests is the karyotype genetic test. In essence, the karyotype test analyzes the size, shape, and number of chromosomes in a patient’s genetic makeup (“Down syndrome- Symptoms and causes”, 2022).

A normal person typically has 46 chromosomes divided into 23 pairs. Further, one of each chromosome comes from either the father or mother. The karyotype test figures out whether you have the normal number of chromosomes as well as if the chromosomes have the appropriate sizes and shapes. If the chromosomal analysis indicates any other readings from the normal spectrum, then the patient suffers from a genetic disease. DNP-810A EMERGING AREAS OF HUMAN HEALTH

Chromosomal analysis is not only used to establish whether a patient suffers from a genetic disease, but also the specific genetic disease that the patient is suffering from. The karyotype test is used to identify any of the following genetic diseases:

  • Down Syndrome
  • Edward’s Syndrome
  • Turner Syndrome
  • Amniocentesis

The karyotype test is mostly used to test for Down Syndrome after the symptoms are identified. What’s more, the chromosomal test can be used to check for Down syndrome in unborn babies in pregnant mothers, young babies, stillborn babies as well as young adults (“Down syndrome- Symptoms and causes”, 2022).

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Origin of Down Syndrome

The Down Syndrome disease is a genetic disorder that is caused by the addition of an extra full chromosome or the partial formation of chromosome 21. Partial formation of the chromosome or the addition of another chromosome affects the developmental and physical changes of a person. Even so, the level of severity varies with each individual. What’s evident in the fact that Down syndrome results in a lifelong intellectual disability or delays in the development of certain bodily systems.

Not much is known about the origin of Down Syndrome. While most relevant research indicates that the disease can be inherited, other research sources also reveal that one can just get it through the genetic disorder. The studies indicate that most of the time, Down syndrome isn’t inherited. The only notable genetic inheritance is prevalent in the translocation of down syndrome. It can easily be passed from the parent to the child. Nonetheless, there are minimal cases where Mosaic Down Syndrome and Trisomy 21 is passed down from the parent to the child. Interestingly, Down syndrome follows a complex inheritance as there is not enough data to validate this connection. The lack of information on the subject is due to the lack of a valid Family Health History (FHH) for an appropriate project study sample. In any case, available research indicates that even translocation of down syndrome is only present in 3 to 4 percent of individuals with down syndrome (Goergen, Ashida, Skapinsky, de Heer, Wilkinson, & Koehly, 2016).

Most local healthcare centers do not have enough data to establish an identification protocol for patients whose children are prone to down syndrome. Mostly, sociocultural factors have had a huge impact on this premise. It is prudent to argue that most individuals are reluctant to share familial information regarding their health. You will also find that the only available data on familial networks exists primarily in clinical institutions that have had longer relationships with familial generational patients. DNP-810A EMERGING AREAS OF HUMAN HEALTH

Despite the introduction of FHx tools trying to fix or improve scientific research on prevalent genetic diseases, the ground remains non-receptive (Canary, Elrick, Pokharel, Clayton, Champine, Sukovic, Jung, & Kaphingst, 2019). Most of the individuals in society prefer not to share certain personal health information as they do not trust the security of this information. While the technological age has greatly advanced treatment procedures, there remains a great mistrust of the safety of digital data.

We would recommend that healthcare institutions should create outreach programs aimed at sensitizing individuals on the importance of using data to improve and solve specific problems in healthcare. In specific, the outreach programs should declare how this information can be used to create a basis for solving rare genetic diseases such as Down Syndrome. Furthermore, the ministry of health in collaboration with healthcare institutions should emphasize the benefits of using FHx tools to improve FHH communication networks.

Gene Mutation Analysis

All in all, current data on Down Syndrome has yielded surprising results. You can easily check whether your unborn child or your young child has Down Syndrome. For unborn babies, pregnant women are encouraged to take the preliminary screening tests during the first and second trimesters of pregnancy. It is especially the case if there is a confirmed case of familial history with the disease. Alternatively, Down Syndrome can be tested in young children if they exhibit the relevant symptoms associated with the prevalence of the genetic disease. Early treatment protocols can be established to control the disease if it is noticed in the early stages of development.

In addition, the karyotype test is useful in determining whether, and the type of down syndrome a patient is suffering from. Even though there is no established cure for Down Syndrome, data from established FHH communication networks is essential in establishing risk factors for the genetic disease (Welch, Wiley, Pflieger, Achiangia, Baker, Hughes-Halbert, Morrison, Schiffman, & Doerr, 2018). Here are some risk factors that you should look out for today: DNP-810A EMERGING AREAS OF HUMAN HEALTH

  • Advanced motherhood age
  • Genetic carriers for translocation of Down Syndrome
  • Bearing one child with Down Syndrome

Conclusion

It is imperative to improve disease risk predictions and tailor preventive care to patients’ risk factors, making it the primary goal. Family health history is indeed the most appropriate approach for immediate gathering of genetic and environmental data that may be relevant to the patient. With the advances in technologies and reduced costs of sequences, comprehensive sequencing tests is required to perform a risk assessment (Haga & Orlando, 2020).  This helps to provide the optimal early interventions for patients and families with multigenerational family history of the Down Syndrome disease to provide them with the knowledge of the most current information on preventative care.

References

Canary, H. E., Elrick, A., Pokharel, M., Clayton, M., Champine, M., Sukovic, M., Hong, S. J., & Kaphingst, K. A. (2019). Family health history tools as communication resources: Perspectives from Caucasian, Hispanic, and pacific islander families. Journal of Family Communication, 19(2), 126-143. https://doi.org/10.1080/15267431.2019.1580195

Goergen, A. F., Ashida, S., Skapinsky, K., de Heer, H. D., Wilkinson, A. V., & Koehly, L. M. (2016). What you don’t know. Public Health Genomics, 19(2), 93-101. https://doi.org/10.1159/000443473

Goergen, A. F., Ashida, S., Skapinsky, K., Heer, H. D., Wilkinson, A. V., & Koehly, L. M. (2016). What you don’t know…: Improving family health history knowledge among multigenerational Mexican origin families https://doi.org/10.1159/000443473

Haga, S. B., & Orlando, L. A. (2020). The enduring importance of family health history in the era of genomic medicine and risk assessment. Personalized Medicine, 17(3), 229-239. https://doi.org/10.2217/pme-2019-0091

Mayo Clinic. (2022). Down syndrome – Symptoms, and Causes. Retrieved 5 April 2022, from https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

Welch, B. M., Wiley, K., Pflieger, L., Achiangia, R., Baker, K., Hughes-Halbert, C., Morrison, H., Schiffman, J., & Doerr, M. (2018). Review and comparison of electronic patient-facing family health history tools. Journal of Genetic Counseling, 27(2), 381-391. https://doi.org/10.1007/s10897-018-0235-7. DNP-810A EMERGING AREAS OF HUMAN HEALTH