810 Topic Week 4 Genetic Counseling GCU

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 Biochemistry, 32(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.

DNP 810 Topic Week 4 Genetic Counseling GCU

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.

ADDITIONAL INSTRUCTIONS FOR THE CLASS

Discussion Questions (DQ)

• Initial responses to the DQ should address all components of the questions asked, include a minimum of one scholarly source, and be at least 250 words.
• Successful responses are substantive (i.e., add something new to the discussion, engage others in the discussion, well-developed idea) and include at least one scholarly source.
• One or two sentence responses, simple statements of agreement or “good post,” and responses that are off-topic will not count as substantive. Substantive responses should be at least 150 words.
• I encourage you to incorporate the readings from the week (as applicable) into your responses.

Weekly Participation

• Your initial responses to the mandatory DQ do not count toward participation and are graded separately.
• In addition to the DQ responses, you must post at least one reply to peers (or me) on three separate days, for a total of three replies.
• Participation posts do not require a scholarly source/citation (unless you cite someone else’s work).
• Part of your weekly participation includes viewing the weekly announcement and attesting to watching it in the comments. These announcements are made to ensure you understand everything that is due during the week.

APA Format and Writing Quality

• Familiarize yourself with APA format and practice using it correctly. It is used for most writing assignments for your degree. Visit the Writing Center in the Student Success Center, under the Resources tab in LoudCloud for APA paper templates, citation examples, tips, etc. Points will be deducted for poor use of APA format or absence of APA format (if required).
• Cite all sources of information! When in doubt, cite the source. Paraphrasing also requires a citation.
• I highly recommend using the APA Publication Manual, 6th edition.

Use of Direct Quotes

• I discourage overutilization of direct quotes in DQs and assignments at the Masters’ level and deduct points accordingly.
• As Masters’ level students, it is important that you be able to critically analyze and interpret information from journal articles and other resources. Simply restating someone else’s words does not demonstrate an understanding of the content or critical analysis of the content.
• It is best to paraphrase content and cite your source.

LopesWrite Policy

• For assignments that need to be submitted to LopesWrite, please be sure you have received your report and Similarity Index (SI) percentage BEFORE you do a “final submit” to me.
• Once you have received your report, please review it. This report will show you grammatical, punctuation, and spelling errors that can easily be fixed. Take the extra few minutes to review instead of getting counted off for these mistakes.
• Review your similarities. Did you forget to cite something? Did you not paraphrase well enough? Is your paper made up of someone else’s thoughts more than your own?
• Visit the Writing Center in the Student Success Center, under the Resources tab in LoudCloud for tips on improving your paper and SI score.

Late Policy

• The university’s policy on late assignments is 10% penalty PER DAY LATE. This also applies to late DQ replies.
• Please communicate with me if you anticipate having to submit an assignment late. I am happy to be flexible, with advance notice. We may be able to work out an extension based on extenuating circumstances.
• If you do not communicate with me before submitting an assignment late, the GCU late policy will be in effect.
• I do not accept assignments that are two or more weeks late unless we have worked out an extension.
• As per policy, no assignments are accepted after the last day of class. Any assignment submitted after midnight on the last day of class will not be accepted for grading.

Communication

• Communication is so very important. There are multiple ways to communicate with me: 
  • Questions to Instructor Forum: This is a great place to ask course content or assignment questions. If you have a question, there is a good chance one of your peers does as well. This is a public forum for the class.
  • Individual Forum: This is a private forum to ask me questions or send me messages. This will be checked at least once every 24 hours.