Purpose: To provide an opportunity to explore the genetic transmission and resulting pathophysiology of a specific disease/disorder of interest to the Advanced Practice Nurse student.
General Guidelines: Select a disorder/disease state that is a result of a genetic alteration. This is a formal paper, formatted and referenced per APA guidelines. The paper should be no more than 3 pages (excluding title page and references). Include a minimum of 3 references – the McCance & Huether text is a starting point and is NOT included in the 3 references and may not be included in citations. You may not use direct quotes. The paper should reflect your synthesis and understanding of the information. References should be dated within the previous 5 years.
The paper must be submitted via Blackboard. Papers not submitted via Blackboard will not be graded. Specific instructions for how/where to submit are provided separately in the Course Assignments folder. Papers submitted after the due date of October 24 will not be accepted for grading or feedback and will receive a grade of zero (unless a revised date is negotiated with the faculty due to extenuating circumstances). PLEASE NOTE: If you are repeating this course you may not resubmit a paper for which you previously received a grade.
I. State why the specific genetic disorder was chosen for the paper. **Please note that in this section use of a personal pronoun is acceptable to state why the topic was selected.** (5 pts)
II. Describe the genetic disease/disorder, including incidence/prevalence across genders and ethnic groups, and specific populations/ages at risk/affected. Include the specific gene/locus affected, patterns of transmission (e.g. parent to child; affected individual to their children), and risk of transmission each pregnancy. (20 pts)
III. Explain how the genetic defect alters normal physiology and how the genetic alteration manifests. (35 pts)
IV. Describe how the genetic alteration is diagnosed and tested before and following birth. (10 pts)
V. List 3 specific teaching points to provide a patient/family regarding the genetics of the disease/alteration. May include genetic transmission, counseling, specific resources available, life expectancy, etc . Does not include manifestations, therapy, treatment options. (15 pts)
VI. Present information in a scholarly manner (clear, grammatically correct) and reflect synthesis of information from sources. Use APA format for headings, citations and references. Conforms to 3 page length. (15 pts)