DNP 810 Topic Week 4 Assignment Genetic Counseling

DNP 810 Topic Week 4 Assignment Genetic Counseling

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Genetic Counseling

Case Study

Genetic counseling has gained significant popularity in the modern world. Healthcare providers, including the nurses play a critical role in providing genetic counseling to their patients. It is therefore important for them to have adequate knowledge and skills in genetic counseling to inform sound decision making by the patients. The case that is utilized in this assignment is about a family that came to the clinic seeking for assistance on the risk of sickle cell disease in their family. According to them, a history of sickle cell disease exists in both of their families. As a result, they were highly concerned about the increased risk of the disease affecting their offspring. Therefore, this case study is explored further in the context of aspects that include health, prevention, screening, diagnostics, and prognostics, selection of treatment and monitoring of treatment effectiveness.

Health

Genetic counseling has significant health benefits that patients should be informed about for their decision-making. Firstly, genetic counseling raises the level of awareness and understanding of the patients concerning the different genetic conditions that are likely to affect them. The knowledge is important in ensuring that they seek their needed genetic services as a way of promoting their health. They also use the knowledge in making decisions and addressing barriers in their societies to access to genetic services such as cultural barriers. Genetic counseling also promotes the mental health and wellbeing of the patients at risk of genetic disorders. For instance, the clients in the case study will be provided with the needed counseling and other support services if found to be at risk of transmitting the disorder to their offspring. The support is important in promoting the mental health and wellbeing of these patients through the elimination of stress and anxiety due to the fear of the unknown outcomes. Genetic counseling also optimizes the outcomes of care. This can be seen from the adoption of preventive care for those at risk and the initiation of early treatments for those affected by genetic disorders (Ashorobi & Bhatt, 2019). Through it, the health outcomes of the clients and their significant others are enhanced.

Prevention

Genetic counseling also has a preventive role when used to address issues affecting clients in clinical and community settings. According to Lewis (2015), genetic counseling is a crisis intervention used to reduce or prevent unexpected adversities in health. This can be seen from the fact that the affected and those at risk are vulnerable to anxiety, poor emotional control, and loss of control over life circumstances. These outcomes have adverse effect on the overall health of the patients. Genetic counseling therefore plays the role of preventing these outcomes by helping individuals to understand their alternatives and make informed decisions that align with their understanding of risk, individual, and family goals. In relation to the case study, genetic counseling will enable the family to understand and adopt effective measures that will ensure their mental health and wellbeing should their offspring be affected by sickle cell disease. It also enables them have control over the expected negative impacts of the disease on their children. Consequently, genetic counseling plays the health prevention role by limiting negative impacts of the disease such as anxiety, depression, and dysfunctional families due to the disease.

Diagnostics

Genetic counseling is also important in informing the affected and those at risk with the different diagnostics used in detecting a genetic disorder. Patients are informed about the available diagnostic methods, benefits, risks, and cost-benefit analysis. The provision of information about the diagnostics is critical in promoting their emotional preparedness for the tests and treatment. In relation to the case study, the family was informed about the tests that are essential in determining whether a newborn is affected by sickle cell disease or not. The diagnostic investigations that are done in sickle cell disease include complete blood count, chorionic villus blood sampling, DNA testing, hemoglobin electrophoresis, and high performance liquid chromatography. The clients also need to undergo screening to determine if they are affected by the disorder. The tests include complete blood count and hemoglobin electrophoresis (Ashorobi & Bhatt, 2019).

Prognostics

Genetic counseling also informs the patients about prognostic value of the genetic testing. However, the increased use genetic testing is associated with significant dilemma on their prognostic value. The questioning of the prognostic value of the tests is attributed to a number of reasons. Firstly, scholars have argued that most of the genetic tests are used for conditions with no or minimal risk-reduction intervention. This therefore implies that patients do not see any need of being tested for these conditions yet there is a lack of effective medications. This concern raises questions on the significance of genetic testing. The second reason for questioning the prognostic value of the genetic testing is that they target mainly determine one’s risk for developing a disease. It fails to provide the patients with certainty that the disorder will develop. The existence of these issues translates into the need for the nurses and other healthcare providers to understand the prognostic value of the various genetic tests since it informs the counseling the clients need (Inusa, 2016). The parents in the case study should be informed that the prognosis of sickle cell trait is unpredictable. The span of life varies depending on the symptoms that affect an individual, with most of the affected dying in their childhood, some living to middle age and few living a normal life span. Therefore, they should be made to understand the use of symptomatic management as the only effective intervention against the disorder.

Selection of Treatment

Genetic counseling also informs patients and their families about the available and effective treatment methods for their genetic disorders. The treatment of genetic disorders is however dependent on the type of the genetic condition that has affected an individual. For example, genetic disorders affecting metabolism are treated through dietary replacements or modifications for the enzyme that is lacking. The family should be informed that the management of sickle cell anemia is mainly dependent on the symptoms of the patients. The treatment approach is tailored to meet the individual needs of the patient. For example, low hemoglobin level will be treated with transfusion while a patient in pain but normal blood count levels will be treated with analgesics. Therefore, the family should be well informed about the symptomatic management of the disorder.

Monitoring the Effectiveness of the Treatment

Genetic counseling should also focus on imparting the patient and their significant others with the ways in which response to treatment will be evaluated. Often, the monitoring of treatment effectiveness in genetic disorders focuses on the severity and frequency of symptom occurrence. It also takes into consideration the physiologic markers of overall health and wellbeing. Genetic tests are also effective in determining the effectiveness of the adopted treatment intervention. An example is the use of drug response profile to identify the response of the individual DNA print to the adopted treatment (Dwivedi et al., 2017). Therefore, genetic counseling for the patients in the case study should consider these aspects of monitoring the treatment to increase their level of awareness and sound decision-making.

Possible Reactions and Ways of Avoiding Negative Reactions

People’s reactions to genetic counseling vary. The variation is attributed to the difference in their levels of expectation and understanding of the genetic disorders. Patients or clients who do not have knowledge about genetic disorders are likely to demonstrate negative reactions towards genetic counseling when compared to informed patients. Therefore, it is important to adopt strategies that will minimize negative reaction from them. The strategies include establishing rapport, building trust, encouraging open communication, asking questions, and exploring issues from concepts known to the patients to those unknown to them. There is also the need to reassure and provide accurate information to the patients (Inusa, 2016). Complex cases should be referred to higher levels of care for further management.

In summary, healthcare providers, including nurses should possess adequate knowledge and skills on genetic counseling. The knowledge is important in assisting patients make informed decisions about their health. It is also required in promoting acceptance among those at risk for genetic disorders. Therefore, nurses should focus on adopting strategies that minimize negative reactions from their patients for successful genetic counseling in their practice.

 

 

References

Ashorobi, D., & Bhatt, R. (2019). Bone Marrow Transplantation In Sickle Cell Disease. In StatPearls [Internet]. StatPearls Publishing.

Dwivedi, S., Purohit, P., Misra, R., Pareek, P., Goel, A., Khattri, S., … & Sharma, P. (2017). Diseases and molecular diagnostics: a step closer to precision medicine. Indian Journal of Clinical Biochemistry32(4), 374-398.

Inusa, B. P. (Ed.). (2016). Sickle Cell Disease: Pain and Common Chronic Complications. BoD–Books on Demand.

Lewis, M. E. (2015). Sickle cell disease: Genetics, management and prognosis. New York: Nova Science.

 

 

Details:

With the increase in knowledge around genetic issues, it is important that all health care providers are prepared to have thorough genetic-based discussions now with their patients. In this assignment, you will synthesize your knowledge into a client case with a real or potential genetic health-related illness.

General Guidelines:

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. Please refer to the directions in the Student Success Center.
  • Use the Surgeon General’s Family History Tool at () to complete this assignment.

Directions:

Write a 1,000-1,250 word paper addressing a client case that might benefit from the process of genetic counseling.

Describe the reason for the genetic counseling based on the findings from your completion of the history tool.

Discuss the possible reactions the patient may have to your counseling and how to avoid negative reactions.

Imagine this assignment as if you are giving this counseling to a patient. Discuss the following:

  1. Health.
  2. Prevention
  3. Screening
  4. Diagnostics
  5. Prognostics
  6. Selection of treatment
  7. Monitoring of treatment effectiveness

Portfolio Practice Hours:

Practice immersion assignments are based on your current course objectives, and are intended to be application-based learning using your real-world practice setting. These assignments earn practice immersion hours, and are indicated in the assignment by a Portfolio Practice Hours statement which reminds you, the student, to enter in a corresponding case log in Typhon. Actual clock hours are entered, but the average hours associated with each practice immersion assignment is 10.

You are required to complete your assignment using real-world application. Real-world application requires the use of evidence-based data, contemporary theories, and concepts presented in the course. The culmination of your assignment must present a viable application in a current practice setting. For more information on parameters for practice immersion hours, please refer to DNP resources in the DC Network.

To earn portfolio practice hours, enter the following after the references section of your paper:

Practice 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 have also tracked said practice hours in the Typhon Student Tracking System for verification purposes and will be sure that all approvals are in place from my faculty and practice mentor.

Genetic Counseling  

  1
Unsatisfactory
0.00%
2
Less Than Satisfactory
74.00%
3
Satisfactory
79.00%
4
Good
87.00%
5
Excellent
100.00%
70.0 %Content  
25.0 %Discussion of the Reason for the Genetic Counseling Based on the Findings From Your Completion of the History Tool Discussion of the reason for the genetic counseling based on the findings from your completion of the history tool is not present. Discussion of the reason for the genetic counseling based on the findings from your completion of the history tool is present but incomplete. Discussion of the reason for the genetic counseling based on the findings from your completion of the history tool is present but done at a perfunctory level. Discussion of the reason for the genetic counseling based on the findings from your completion of the history tool is clearly present and convincing. Information presented is from scholarly though dated sources. Discussion of the reason for the genetic counseling based on the findings from your completion of the history tool is clearly present and insightful. Information presented is from current scholarly sources.
25.0 %Discussion of the Possible Reactions the Patient May Have to Your Counseling and How to Avoid Negative Reactions Discussion of the possible reactions the patient may have to your counseling and how to avoid negative reactions is not present. Discussion of the possible reactions the patient may have to your counseling and how to avoid negative reactions is present but incomplete. Discussion of the possible reactions the patient may have to your counseling and how to avoid negative reactions is present but done at a perfunctory level. Discussion of the possible reactions the patient may have to your counseling and how to avoid negative reactions is clearly present. Discussion is convincing. Information presented is from scholarly though dated sources. Discussion of the possible reactions the patient may have to your counseling and how to avoid negative reactions is clearly present. Discussion is insightful. Information presented is from current scholarly sources.
20.0 %Proposal of What You Will Say to the Patient Including the Many Points Offered in the Assignment Proposal of what you will say to the patient including the many points offered in the assignment is not presented. Proposal of what you will say to the patient including the many points offered in the assignment is presented but incomplete. Proposal of what you will say to the patient including the many points offered in the assignment is presented but done at a perfunctory level. Proposal of what you will say to the patient including the many points offered in the assignment is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly but some outdated sources are used. Proposal of what you will say to the patient including the many points offered in the assignment is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.
20.0 %Organization and Effectiveness  
7.0 %Thesis Development and Purpose Paper lacks any discernible overall purpose or organizing claim. Thesis and/or main claim are insufficiently developed and/or vague; purpose is not clear. Thesis and/or main claim are apparent and appropriate to purpose. Thesis and/or main claim are clear and forecast the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose. Thesis and/or main claim are comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.
8.0 %Argument Logic and Construction Statement of purpose is not justified by the conclusion. The conclusion does not support the claim made. Argument is incoherent and uses noncredible sources. Sufficient justification of claims is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility. Argument is orderly, but may have a few inconsistencies. The argument presents minimal justification of claims. Argument logically, but not thoroughly, supports the purpose. Sources used are credible. Introduction and conclusion bracket the thesis. Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression of claims from introduction to conclusion. Most sources are authoritative. Clear and convincing argument that presents a persuasive claim in a distinctive and compelling manner. All sources are authoritative.
5.0 %Mechanics of Writing (includes spelling, punctuation, grammar, language use) Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used. Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present. Some mechanical errors or typos are present, but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used. Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used. Writer is clearly in command of standard, written, academic English.
10.0 %Format  
5.0 %Paper Format (Use of appropriate style for the major and assignment) Template is not used appropriately or documentation format is rarely followed correctly. Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent. Appropriate template is used. Formatting is correct, although some minor errors may be present. Appropriate template is fully used. There are virtually no errors in formatting style. All format elements are correct.
5.0 %Research Citations (In-text citations for paraphrasing and direct quotes, and reference page listing and formatting, as appropriate to assignment and style) No reference page is included. No citations are used. Reference page is present. Citations are inconsistently used. Reference page is included and lists sources used in the paper. Sources are appropriately documented, although some errors may be present. Reference page is present and fully inclusive of all cited sources. Documentation is appropriate and citation style is usually correct. In-text citations and a reference page are complete and correct. The documentation of cited sources is free of error.
100 %Total Weightage

 

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