You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 5. Use an example from your own personal practice, experience, or own personal/family; however, simulated cases are not acceptable for practice immersion hours and therefore not acceptable for this assignment.
Examples might include a patient with Duchesnes muscular dystrophy, Huntingtons disease, Downs syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or other genetic disorder that you and/or the organization you practice in may specialize in treating.
For this assignment (Conclusion of the “Case Study”), include Parts 1, 2, and 3 of the “Case Study” in one document, combined with additional genetics information learned from the assigned readings from all course topics. Make sure you have incorporated any faculty feedback received from previous reports. Do not copy/paste entire papers from Parts 1, 2 and 3.
Create a document including only the following areas from previous case reports:
Describe the disease, its prevalence, its incidence, and general knowledge of the disease.
Discuss the laboratory testing that can be done.
Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder.
Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education.
Describe the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs. Examine how genetics can influence policy issues.
Discuss any nutritional influences for this disease. Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness. In addition, your case study must include the following:
: Discuss any ethical considerations for this disease.
Compare how genetics can improve care and health outcomes while reducing cost to usual practices.
Discuss the changes in approaches to care when new evidence warrants evaluation of other options for improving outcomes or decreasing adverse events.
Create a plan for how you might educate colleagues and/or patients on this genetic disorder.