DNP 810 Topic Week 4 Genetic Counseling GCU

 DNP 810 Week 4 Genetic Counseling GCU

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.

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.

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

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 (http://www.hhs.gov/familyhistory/portrait/index.html) 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.