DNP 810 Week 4 Genetic Counseling GCU

DNP 810 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.

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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

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

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.

Genetic Counseling

Genetic counseling is a patient-centered communication process designed to help individuals comprehend, acclimate to, and adjust to the medical and psychosocial implications of genetic contributions to illness. Genetic counselors evaluate an individual’s risk of a genetic-related disorder, provide preparation for genetic testing, communicate the results, and assist in developing a management plan for the patient’s genetic disorder (Patch & Middleton, 2018). Additionally, they prepare and support patients in communicating with at-risk relatives. This paper aims to explore a patient case that stands to benefit from genetic counseling.

Reason For Genetic Counseling

A 48-year-old female client is undergoing genetic counseling based on her family health portrait findings. As per her family medical history, the patient’s mother succumbed to breast cancer at 70 after a seven-year battle with the disease, having been diagnosed at 63. Furthermore, two relatives on her maternal side were diagnosed with breast cancer, one at 58 and the other at 60. Her maternal grandmother died from ovarian cancer 17 years ago. The client, having read in a health magazine about the increased risk for individuals with close relatives with a history of breast cancer, sees the necessity for genetic counseling to assess her risk for breast cancer and prepare for predictive and diagnostic screening.

Possible Reactions The Patient May Have To the Counseling

During genetic counseling, the client will be informed of her elevated 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. Upon learning about her heightened risk, the patient may experience anxiety and terror. Consequently, she may exhibit mixed reactions to undergoing a genetic test due to the fear of positive results (Patch & Middleton, 2018). Furthermore, the patient might be overwhelmed with sorrow when confronted with the possibility of suffering like her mother and facing premature death. Sensitivity to the client’s ability to comprehend and absorb the genetic information provided is crucial in avoiding negative reactions.

Health

Breast cancer stands as the second most common cause of cancer-related death in women, trailing only behind lung cancer. In its early stages, breast cancer often presents with no symptoms such as breast pain or discomfort. Indications that should raise suspicion of breast cancer encompass changes in breast skin, skin dimpling, alterations in breast size or shape, blood-stained nipple discharge in a single duct, nipple inversion, and the presence of an axillary lump (Sauter, 2018). Breast cancer not only diminishes the quality of life but also leads to various health complications, particularly when the cancer spreads to other organs in the body.

Prevention

The avoidance of breast cancer involves making lifestyle adjustments and addressing modifiable risk factors associated with the disease. Maintaining a healthy weight through nutritious dietary habits and regular physical exercise is crucial as obesity escalates the risk of breast cancer (Sauter, 2018). Furthermore, curtailing alcohol consumption and quitting smoking are effective measures in diminishing the likelihood of breast cancer. Additionally, individuals with a family history of breast cancer should discontinue hormone replacement therapy (HRT) to mitigate the risk.

Screening

The identification of breast cancer at an early, non-palpable stage relies on mammography, the sole method available for this purpose. Mammography stands out as a sensitive screening technique, capable of detecting preclinical lesions, including masses too small to be manually palpated (Song et al., 2019). It is noteworthy that the traditional film mammography is gradually being replaced by digital mammography, offering advantages in electronic reading, filing, and transmission of mammograms. Research indicates the particular benefits of digital mammography for women with dense breasts, especially those below 50 years (Song et al., 2019). Screening is advised for healthy women aged 50-74 years without signs of breast cancer. However, it is also recommended for women aged 40-49 years with an average risk of breast cancer.

Diagnostics

Diagnostic procedures for breast cancer encompass both imaging and laboratory tests. Ultrasonography and Magnetic Resonance Imaging (MRI) are imaging tests employed in diagnosing breast cancer. Ultrasonography is frequently used as a complementary test to refine findings from mammography, aiding in distinguishing between a fluid-filled cyst and a solid mass, for instance (He et al., 2020). Mammography and ultrasound exhibit enhanced effectiveness in detecting cancers in women with dense breasts. MRI, on the other hand, is utilized to obtain a clearer visualization of suspicious areas identified in mammograms or for women with dense breasts, providing insight into the actual size of the cancerous mass and detecting any additional cancers within the breast. The diagnostic process for breast cancer involves a pathologic examination of tissue from the suspected cancerous mass, and laboratory tests such as the pathologic study of lymph nodes are employed to determine if the cancer has metastasized (He et al., 2020).

Prognostics

The long-term outlook for breast cancer depends on the stage of the tumor. The five-year survival rate is contingent on the stage, with localized and regional breast cancer exhibiting higher survival rates compared to metastasized cases (Łukasiewicz et al., 2021). Unfavorable prognostic factors for breast cancer include younger age (20s and 30s), race (Blacks), larger primary tumor, high-grade tumor, absence of estrogen and progesterone receptors, and the presence of BRCA gene mutations.

Selection of Treatment

Treatment modalities for breast cancer encompass surgery, radiation therapy, and chemotherapy. The choice of treatment is influenced by both tumor-specific and patient-specific factors. Notably, surgery, including early referral to a plastic surgeon for tumor removal and breast reconstruction, is increasingly recommended (Łukasiewicz et al., 2021). Breast-conserving surgery coupled with radiation therapy offers the advantage of less extensive surgery while preserving the breasts.

Monitoring of Treatment Effectiveness

Even after undergoing breast cancer surgery, patients necessitate ongoing mammography screening. For individuals who have undergone a total mastectomy, annual follow-up for the other breast is imperative due to the elevated risk of cancer development. Similarly, those who have had a partial mastectomy, subcutaneous mastectomy, or lumpectomy require follow-up mammography for the treated breast (Łukasiewicz et al., 2021). The initial mammogram is conducted six months post-surgery to establish a baseline for postoperative and post-radiation changes. Subsequent mammography screenings are recommended every 6-12 months for ongoing screening and follow-up.

Conclusion

A familial history of breast cancer, particularly among first-degree relatives, elevates an individual’s susceptibility to the disease. Screening is advocated for women aged 40-49 years with an average risk and for healthy women aged 50-74 years. Mammography emerges as the foremost method for breast cancer screening, with digital mammography proving advantageous for women with dense breasts. Treatment options encompass 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

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