DNP 810 Genetic Counseling

Grand Canyon University DNP 810 Genetic Counseling– Step-By-Step Guide

This guide will demonstrate how to complete the Grand Canyon University DNP 810 Genetic Counseling  assignment based on general principles of academic writing. Here, we will show you the A, B, Cs of completing an academic paper, irrespective of the instructions. After guiding you through what to do, the guide will leave one or two sample essays at the end to highlight the various sections discussed below.

How to Research and Prepare for DNP 810 Genetic Counseling     

Whether one passes or fails an academic assignment such as the Grand Canyon University NUR 550 Benchmark – Evidence-Based Practice Project: Literature Review depends on the preparation done beforehand. The first thing to do once you receive an assignment is to quickly skim through the requirements. Once that is done, start going through the instructions one by one to clearly understand what the instructor wants. The most important thing here is to understand the required format—whether it is APA, MLA, Chicago, etc.

After understanding the requirements of the paper, the next phase is to gather relevant materials. The first place to start the research process is the weekly resources. Go through the resources provided in the instructions to determine which ones fit the assignment. After reviewing the provided resources, use the university library to search for additional resources. After gathering sufficient and necessary resources, you are now ready to start drafting your paper.

How to Write the Introduction for DNP 810 Genetic Counseling     

The introduction for the Grand Canyon University DNP 810 Genetic Counseling  is where you tell the instructor what your paper will encompass. In three to four statements, highlight the important points that will form the basis of your paper. Here, you can include statistics to show the importance of the topic you will be discussing. At the end of the introduction, write a clear purpose statement outlining what exactly will be contained in the paper. This statement will start with “The purpose of this paper…” and then proceed to outline the various sections of the instructions.

How to Write the Body for DNP 810 Genetic Counseling     

After the introduction, move into the main part of the DNP 810 Genetic Counseling assignment, which is the body. Given that the paper you will be writing is not experimental, the way you organize the headings and subheadings of your paper is critically important. In some cases, you might have to use more subheadings to properly organize the assignment. The organization will depend on the rubric provided. Carefully examine the rubric, as it will contain all the detailed requirements of the assignment. Sometimes, the rubric will have information that the normal instructions lack.

Another important factor to consider at this point is how to do citations. In-text citations are fundamental as they support the arguments and points you make in the paper. At this point, the resources gathered at the beginning will come in handy. Integrating the ideas of the authors with your own will ensure that you produce a comprehensive paper. Also, follow the given citation format. In most cases, APA 7 is the preferred format for nursing assignments.

How to Write the Conclusion for DNP 810 Genetic Counseling     

After completing the main sections, write the conclusion of your paper. The conclusion is a summary of the main points you made in your paper. However, you need to rewrite the points and not simply copy and paste them. By restating the points from each subheading, you will provide a nuanced overview of the assignment to the reader.

How to Format the References List for DNP 810 Genetic Counseling     

The very last part of your paper involves listing the sources used in your paper. These sources should be listed in alphabetical order and double-spaced. Additionally, use a hanging indent for each source that appears in this list. Lastly, only the sources cited within the body of the paper should appear here.

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Sample Answer for DNP 810 Genetic Counseling

Genetic counseling refers to a patient-centered communication process that enables individuals to understand, become accustomed, and adjust to the medical and psychosocial implications of genetic contributions to illness. Genetic counselors assess a person’s risk of a genetic-related disorder, prepare the person for genetic testing, convey the results, and assist in developing the management plan for the patient’s genetic disorder (Patch & Middleton, 2018). Besides, they prepare and support patients to communicate with their relatives at risk of a genetic condition. The purpose of this paper is to discuss about a patient case that might benefit from genetic counseling.

Reason For The Genetic Counseling

A 48-year-old female client is on genetic counseling based on her family health portrait findings. According to her family medical history, the patient’s mother succumbed to Breast Cancer at 70 years after battling the disease for seven years. She was diagnosed with Breast cancer at 63 years. In addition, she has two relatives from her maternal side who were diagnosed with breast cancer, one at 58 years and the other at 60 years. Her maternal grandmother died from ovarian cancer 17 years ago. The client read in a health magazine that individuals whose close relatives have a history of breast cancer have a higher risk of developing the disorder than those with no positive family history. Therefore, genetic counseling is necessary to assess the patient’s risk for breast cancer and prepare her for predictive and diagnostic screening of the disease. 

Possible Reactions The Patient May Have To the Counseling

The client will be informed during genetic counseling that she has a high risk of developing breast cancer in her 50s based on her family history. Similarly, her siblings and children are at risk of developing the disorder. After learning about her high risk of developing breast cancer, the patient might get anxious and terrified. Consequently, she may have mixed reactions to having a genetic test due to the fear of positive results (Patch & Middleton, 2018). In addition, the patient might get drenched in sorrow when she learns that she might suffer like her mother and even have a premature death. The negative reactions can be avoided by being sensitive to the concept of the point at which the client will be most able to understand and absorb the genetic information being provided.

Health

Breast cancer is the second most common cause of cancer death in women after lung cancer. In the early stage, breast cancer mostly has no symptoms like breast pain or discomfort. Symptoms that should make one suspect breast cancer include breast skin changes, skin dimpling, changes in breast size or shape, blood-stained nipple discharge in a single duct, nipple inversion, and an axillary lump (Sauter, 2018). Breast cancer lowers the quality of life and results in various health complications, often in cases where cancer spreads to other body organs.

Prevention

Breast cancer can be prevented through lifestyle modification and eliminating modifiable risk factors for breast cancer. Obesity increases the risk of breast cancer, and thus one can lower the risk by maintaining a healthy weight through healthy dietary habits and regular physical exercises (Sauter, 2018). Reducing alcohol consumption and smoking cessation also reduces the risk of breast cancer. In addition, hormone replacement therapy (HRT) is a risk factor, and thus women with a family history of breast cancer should stop HRT.

Screening

Breast cancer is screened through mammography, which is the only available method for early detection of non-palpable breast cancer. Mammography is considered a sensitive screening method for breast cancer. It is unique based on its ability to shoe preclinical lesions like masses too small to be palpated manually (Song et al., 2019). It is important to note that traditional film mammography is progressively being replaced by digital mammography, which has the advantage of reading, filing, and transmitting mammograms electronically. Besides, studies demonstrate that digital mammography benefits females with dense breasts, like those below 50 years (Song et al., 2019). Screening is recommended in healthy women 50-74 years with no signs of breast cancer. However, it is recommended for women 40-49 years with an average risk for breast cancer.

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Diagnostics

Diagnostics for breast cancer include imaging and laboratory tests. Imaging tests include Ultrasonography and Magnetic resonance imaging (MRI). Ultrasonography of the breast is mostly used as an additional test to refine findings on mammography. For example, if a mammogram shows a lesion, the ultrasonography assists in distinguishing a fluid-filled cyst from a solid mass (He et al., 2020). Besides, mammography and ultrasound are usually more effective in detecting cancers in females with dense breasts. MRI is used to visualize better suspicious areas found in a mammogram or for females with dense breasts. The MRI helps to establish the actual size of the cancerous mass and identify any other cancers in the breast. Furthermore, a breast cancer diagnosis is based on a pathologic exam of tissue from the suspected cancerous mass (He et al., 2020). Lab tests like pathologic study of the lymph nodes are used to detect if the breast cancer has metastasized.

Prognostics

The long-term prognosis depends on the stage of the breast tumor. The five-year survival rate in breast cancer depends on the cancer stage, with localized and regional breast cancer having the highest survival rate and metastasized having the lowest (Łukasiewicz et al., 2021). Poor prognosis in breast cancer is associated with factors like younger age (20s and 30s), race (Blacks), larger primary tumor, high-grade tumor, absence of estrogen and progesterone receptors, and presence of BRCA gene mutations.   

Selection of Treatment

The treatment of breast cancer includes surgery, radiation therapy, and chemotherapy. Treatment is selected based on the tumor and patient factors. However, surgery is increasingly being recommended, and it involves early referral to a plastic surgeon to remove the cancer tumor and reconstruct the breast (Łukasiewicz et al., 2021). Besides, breast-conserving surgery combined with radiation therapy has the advantage of having less-extensive surgery and maintaining the breasts.

Monitoring of Treatment Effectiveness

Patients with a history of breast cancer surgery still require mammography screening. If a person had a total mastectomy, the other breast needs annual follow-up since there is a high risk of cancer developing in the other breast. Besides, if the patient had a partial mastectomy, subcutaneous mastectomy, or lumpectomy, then the breast needs follow-up mammography (Łukasiewicz et al., 2021). The first mammogram is performed six months after surgery to offer a baseline for the new postoperative and post-radiation changes. After that, mammography can be carried out every 6-12 months for screening and follow-up.

Conclusion

A family history of breast cancer, especially among first-degree relatives, increases a person’s risk of developing the disease. Screening is recommended in females aged 40-49 years with an average risk of breast cancer and in healthy females 50-74 years. Mammography is the most recommended method for breast cancer screening, with digital mammography being beneficial in females with dense breasts. Treatment options include surgery, radiotherapy, and chemotherapy. 

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References

He, Z., Chen, Z., Tan, M., Elingarami, S., Liu, Y., Li, T., Deng, Y., He, N., Li, S., Fu, J., & Li, W. (2020). A review on methods for diagnosis of breast cancer cells and tissues. Cell proliferation, 53(7), e12822. https://doi.org/10.1111/cpr.12822

Łukasiewicz, S., Czeczelewski, M., Forma, A., Baj, J., Sitarz, R., & Stanisławek, A. (2021). Breast Cancer-Epidemiology, Risk Factors, Classification, Prognostic Markers, and Current Treatment Strategies-An Updated Review. Cancers, 13(17), 4287. https://doi.org/10.3390/cancers13174287

Patch, C., & Middleton, A. (2018). Genetic counseling in the era of genomic medicine. British medical bulletin, 126(1), 27–36. https://doi.org/10.1093/bmb/ldy008

Sauter, E. R. (2018). Breast Cancer Prevention: Current Approaches and Future Directions. European journal of breast health, 14(2), 64–71. https://doi.org/10.5152/ejbh.2018.3978

Song, S. Y., Park, B., Hong, S., Kim, M. J., Lee, E. H., & Jun, J. K. (2019). Comparison of Digital and Screen-Film Mammography for Breast-Cancer Screening: A Systematic Review and Meta-Analysis. Journal of breast cancer, 22(2), 311–325. https://doi.org/10.4048/jbc.2019.22.e24

DNP 810 WEEK 3 Case Study Part 2 Huntingtons Disease Sample

Case Study Part 2: Huntington’s Disease 

Huntington’s disease (HD) is a hereditary condition transmitted as an autosomal dominant trait during conception. It is a movement disorder that causes neurologic and behavioral symptoms that typically become evident from 30 to 50 years and aggravate in the next one to two decades of a person’s life (McColgan & Tabrizi, 2018). It is approximated that 30,000 individuals in the United States (US) have HD, and another 20,000 to 50,000 are assumed to carry the gene. Males and females are equally affected at a time in their lives when they are highly productive. HD usually causes chorea, neuropsychiatric symptoms, and dementia during middle age, and most patients ultimately require institutionalization (McColgan & Tabrizi, 2018). The purpose of this paper is to discuss the chromosomal analysis in HD, causes, and gene mutation.  

Indications for Chromosomal Analysis 

The direct test for the HD gene involves cysteine-adenosine-guanine (CAG) analysis and repeat length. The chromosomal analysis enables healthcare providers to offer genetic counseling and psychological support services that facilitate predictive testing in a timely, sensitive, and informed fashion (Goldman et al., 2021). Indications for chromosomal analysis in HD include predictive testing in an asymptomatic person at risk for carrying the HD gene to confirm a suspected HD diagnosis and for prenatal diagnosis and preimplantation genetic diagnosis (PGD). The common reasons for predictive testing include making plans on marriage, reproduction, finances, and the need to alleviate uncertainty (Goldman et al., 2021). However, the choice to undergo a predictive test chromosomal analysis for HD must always be informed, deliberated, and freely chosen.  

Confirmatory testing by chromosomal analysis of the HD gene is indicated at or following a clinical diagnosis of HD. A CAG replicate expansion in a patient with HD symptoms validates the clinical impression and supports HD diagnosis. In prenatal diagnosis, Chorionic Villus Sampling (CVS) and amniocentesis indicate if the parent is at risk or is positive for the HD gene (Garrett et al., 2019). CVS is performed from 10-12th week gestation, while amniocentesis is done from 14th to 20th week. Furthermore, the PGD test is conducted on a single cell obtained through a needle biopsy from the eight-cell embryo. The chromosomal analysis is carried out on the DNA from the single-cell, facilitating the detection of the HD replicates sizes for the specific embryo. It is worth noting that children should not undergo chromosomal analysis for HD except if there is a medically convincing reason, like a clinical diagnosis or a strong clinical suspicion of HD (Garrett et al., 2019). In these circumstances, the chromosomal analysis should come after a thorough neurological and neuropsychological examination. 

Causes of Huntington’s Disease 

HD is attributed to selective dysfunction of the neurons and ensuing neuronal in the cerebral cortex, striatum, and other brain regions. It is attributed to the elongation of CAG replicates on the short arm of chromosome 4p16.3 in the Huntingtin (HTT) gene. The mutation results in an unusually long expansion of the polyglutamine in the HTT protein, resulting in neurodegeneration (Ghosh & Tabrizi, 2018). The HTT protein’s gene encodes are involved in synaptic function and have a major role in the post-embryonic period. Besides, it is supposed to have anti-apoptotic functions and protects against the toxic mutant HTT. Some evidence shows that the mutant protein causes an addition and a loss of function.  

Origin of Huntington’s Disease and Considerations for Practice and Patient Education 

The HD gene is evident from conception and is inherited in an autosomal dominant manner. This means that every offspring of an affected parent, regardless of sex, has a 50% probability of inheriting the HD gene. HD is a single gene disorder attributed to a mutation in the HD gene (IT15) on chromosome 4 (Ghosh & Tabrizi, 2018). This causes unusual replication of the DNA sequence CAG, which normally codes for the amino acid glutamine. It results in a large protein referred to as huntingtin, which has an extended stretch of polyglutamine residues that build up within neurons contributing to HD through unknown mechanisms. The more CAG replicates, the earlier the onset of HD and the more acute its expression (Ghosh & Tabrizi, 2018). The number of CAG replications increases with consecutive generations when the father transmits the mutation and can cause increasingly adverse phenotypes within a family over time. 

In clinical practice, the clinician should consider that there is no existing treatment for HD, and the only approach to prevent gene transmission is for affected individuals to avoid having biological children. Patient education should involve genetic counseling, which is crucial for the offspring of patients with HD. The DNP-nurse should educate patients at risk for HD to be tested to establish whether they have an HD gene mutation. However, before the test, the DNP-nurse should counsel patients to ensure that they have voluntarily decided to undergo testing (McColgan & Tabrizi, 2018). Besides, counseling helps identify whether the advantages of knowing the results outweigh the risks of a positive result like mental distress. 

Gene Mutation of Huntington’s Disease 

The HD gene mutation is considered a multiple repeats of the particular base triplet CAG, which increases the gene’s length. HD is passed on as a dominant Mendelian gene. An autosomal dominant trait with a high penetrance means that an individual who inherits just one mutated allele has almost a 100% probability of developing HD (Gatto et al., 2020). Individuals who inherit the HD gene mutation from their father have an early onset of the disease and a shorter life expectancy compared to those who inherit it from their mother. Furthermore, there are differences in HD based on the size or length of the HD gene mutation. The longer the mutation, the more critical the HD is at an earlier age. Patients commonly have the HTT allele with CAG repeats ranging from 36 to 55. Besides, persons with juvenile-onset the disorder typically have CAG repeats above 60 (Gatto et al., 2020). However, individuals with alleles ranging from 27 to 35 do not exhibit signs of HD but are inclined to repeat instability. 

Conclusion 

HD is a neurodegenerative disorder caused by a dominantly inherited CAG replicate expansion in the huntingtin gene on chromosome 4. Chromosomal analysis for HD includes predictive testing in at-risk patients, confirmation of a suspected HD diagnosis, prenatal diagnosis, and preimplantation genetic diagnosis. The HD gene mutation has various expressions based on if an individual inherits it from the father or mother. Genetic counseling is crucial before genetic testing, and the DNP-nurse should ensure that the patient’s decision is voluntary.    

References 

Garrett, J. R., Lantos, J. D., Biesecker, L. G., Childerhose, J. E., Chung, W. K., Holm, I. A., … & Brothers, K. (2019). Rethinking the “open future” argument against predictive genetic testing of children. Genetics in Medicine, 21(10), 2190-2198. https://doi.org/10.1038/s41436-019-0483-4 

Gatto, E. M., Rojas, N. G., Persi, G., Etcheverry, J. L., Cesarini, M. E., & Perandones, C. (2020). Huntington’s disease: Advances in the understanding of its mechanisms. Clinical parkinsonism & related disorders, 3, 100056. https://doi.org/10.1016/j.prdoa.2020.100056 

Ghosh, R., & Tabrizi, S. J. (2018). Huntington disease. Handbook of Clinical Neurology, 255–278. https://doi.org/10.1016/b978-0-444-63233-3.00017-8  

Goldman, J., Xie, S., Green, D., Naini, A., Mansukhani, M. M., & Marder, K. (2021). Predictive testing for neurodegenerative diseases in the age of next‐generation sequencing. Journal of Genetic Counseling, 30(2), 553-562. https://doi.org/10.1002/jgc4.1342 

McColgan, P., & Tabrizi, S. J. (2018). Huntington’s disease: a clinical review. European journal of neurology, 25(1), 24–34. https://doi.org/10.1111/ene.13413