Nursing Care Strategies in Genetics and Genomics

Nursing Care Strategies in Genetics and Genomics

Genetic disorders are a spectrum of disorders caused by gene mutations. Whereas some mutated genes are passed from the parents, some occur during the early developmental phases of a child (Roberts & Bricher, 2023). Cystic fibrosis, sickle cell anemia, Down syndrome, and Huntington’s disease are some of the most commonly encountered genetic disorders (Angular et al., 2020); however, this paper focuses on cystic fibrosis.

Case Scenario

Mr. N, a 45-year-old male of European descent, presented with complaints of cough and fatigue. A subjective assessment of the patient revealed that he had had multiple episodes of pneumonia. Colonization with Pseudomonas aeruginosa was positive in one of the pneumonic presentations. Findings also revealed digital clubbing, cyanosis, and salty sweat. The patient was diagnosed with cystic fibrosis. This diagnosis was confirmed by the panel test.

Genetic Testing

Several types of genetic testing are available for cystic fibrosis. These tests can be used to diagnose the disease, screen for disease carriers, or determine the presence of a mutation that can lead to the disease. The cystic fibrosis gene panel test is an example of a genetic screening tool for cystic fibrosis (Farrell et al., 2020). Positive results, per this diagnostic tool, are the presence of common mutations on the CFTR protein. The cystic fibrosis gene mutation panel is valuable in detecting common abnormalities in the cystic fibrosis transmembrane conductance (CFTR) gene on the seventh chromosome (Francis et al., 2023). This genetic testing tool is highly accurate in diagnosing cystic fibrosis and identifying cystic fibrosis disease carriers.

Genetic Nursing Care Plan

Nurses are part of the interdisciplinary team involved in the comprehensive management of cystic fibrosis. Nursing priorities for these patients include managing airway inflammation and obstruction, managing depressed respiratory functionalities, infection prevention, and providing patient education on the disease to address any potential knowledge gaps (Odobasic Palkovic et al., 2020). Maintaining airway patency and improving gas exchange will be the first point of nursing care for Mr. N. This can be attained by monitoring his vitals, assessing cough effectiveness, assessing changes in the respiratory status, sputum, and the chest wall for chest expansion, and offering pharmacologic support. These interventions are targeted at ensuring optimal ventilation and preventing respiratory distress.

Patient education is also integral to the nursing care plan for this disease. Patients with cystic fibrosis are educated on their disease, infection control and prevention strategies, and other self-care aspects such as optimal nutrition. Nurses play a role in educating the patients about the importance of hand hygiene in preventing infection, optimal nutrition to enhance lung function and the overall health of the patient, and proper infectious waste disposal to avoid possible contamination. The nurse will also educate the patient on the manifestations of the disease to help them identify exacerbations and seek care (Odobasic Palkovic et al., 2020). These educational strategies will help Mr. N maintain accountability for his health and disease management.

The Roles of Genetic Professionals in the Care Plan

Genetic professionals play a role in the comprehensive management of cystic fibrosis. They include medical geneticists, nurses, and genetic counselors. Their role is to identify families at risk of various genetic disorders by gathering and analyzing individuals’ health information, family history, and inheritance patterns to ascertain the likelihood of a genetic disease recurring (Middleton et al., 2022). They also provide information on genetic testing and other diagnostic tests applicable to ascertaining genetic disorders in individuals and families. Nurses can also play a role in providing care to patients with various genetic disorders.

Referral Resources

Referral resources for persons with genetic disorders include medical geneticists, genetic counselors, and genetic support groups. Medical geneticists and genetic counselors are valuable in providing genetic information, including various genetic disorders, risk probability, and education to affected individuals. Genetic support groups such as the Genetic Alliance are important sources of psychosocial support for patients with various genetic disorders. The patient, in this case, can benefit from these resources.

References

Angural, A., Spolia, A., Mahajan, A., Verma, V., Sharma, A., Kumar, P., Dhar, M. K., Pandita, K. K., Rai, E., & Sharma, S. (2020). Review: Understanding rare genetic diseases in low-resource regions like Jammu and Kashmir – India. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.00415

Farrell, P. M., Rock, M. J., & Baker, M. W. (2020). The impact of the CFTR gene discovery on cystic fibrosis diagnosis, counseling, and preventive therapy. Genes, 11(4), 401. https://doi.org/10.3390/genes11040401

Francis, N., Yavuz, S., & Elnazir, B. (2023). Beyond the local basic panel: Full CFTR gene analysis identifies novel CF mutation missed on standard testing in an Arabic child. Cureus. https://doi.org/10.7759/cureus.33337

Middleton, A., Taverner, N., Houghton, C., Smithson, S., Balasubramanian, M., & Elmslie, F. (2022). Scope of professional roles for genetic counselors and clinical geneticists in the United Kingdom. European Journal of Human Genetics, 31(1), 9–12. https://doi.org/10.1038/s41431-022-01214-7

Odobasic Palkovic, T., Tjesic-Drinkovic, D., Tjesic-Drinkovic, D., Godic, I., Lalic, I., Sajnic, A., Karabatic, S., & Vukic Dugac, A. (2020). Nurse-provided education improves adherence and quality of life in adult patients with cystic fibrosis. Nurses. https://doi.org/10.1183/13993003.congress-2020.576

Roberts, M. F., & Bricher, S. E. (2023). Theoretical Framework for the study of genetic diseases caused by dominant alleles. Life, 13(3), 733. https://doi.org/10.3390/

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Assignment Content

Competency
Design nursing care strategies that incorporate genetic and genomic risk factors.

Student Success Criteria
View the grading rubric for this deliverable by selecting the “This item is graded with a rubric” link, which is located in the Details & Information pane.

Scenario
You are a general nurse caring for a patient who received a positive genetic or genomic test result. Part of your role as a general nurse in genetic and genomic care is to provide accurate information, ensure appropriate patient referral, and serve as a patient advocate. In preparation for your weekly clinical interprofessional rounds, you develop a plan of care for this client to guide appropriate nursing strategies based on the genetic or genomic test results.

Instructions
Select a genetic or genomic condition you experienced in practice or find interesting.

In a Word document, develop a plan of care for a client with a positive genetic or genomic test result for the selected disorder, including the following information:

Create a case scenario for a client with a positive genetic test result, including the identification of a genetic condition
Explain the specific type of genetic testing for the genetic condition, including what the positive results indicate
Design a plan of genetic nursing care strategies based on the positive results
Describe the roles of genetic professionals in planning care for clients with genetic and genomic needs.
Describe various referral resources for the facilitation of genetic and genomic care

All content must be supported by providing rationales, examples, and evidence from credible sources