Genetics Case Study Assignment
NURS 4404: Community Health
General Background Information on Case Studies
In our day-to-day work, problems are not often simple and easy to work out, nor are there simple solutions. Solving our problems can be more effective if we can consider multiple perspectives and try to find the best of several solutions in a systematic way.
A case approach gives us a structure for solving problems systematically. They allow us to apply concepts we’re learning in class to complicated (“messy”) fictional situations, and give us a chance to break down the case into parts then find solutions for the problem(s), sharpening our analytical skills.
Here is a description of each part of a typical case analysis. Case reports are brief – not more than two pages. Items can be in bullet-points, and clarity and conciseness are important. Ensure that you double-check for spelling and grammatical errors. Think of the report as a brief.
Identify and Analyze Problems
Identify the key problems in the case. These should go beyond the big question sometimes given at the end of the case, but take into account the conflicts or issues that make the big question a difficult one to answer. Identify the stakeholders in each problem.
With the problems identified, analyze each one. This can be where course content begins to come into play – be sure to use the ideas from class to unpack each issue. Show all sides of the case with fairness – distinguish between what are facts and assumptions you are making (‘reading between the lines’). Identify the right calculations, if needed, to solve the issue.
Recommendations for Effective Solutions/Strategies
With the problems identified and analyzed, provide more than one solution for each problem. If there is a big question to address, these should build up to an answer for it. Each solution might have pro’s and con’s – identify them, then choose the best one. If you are using calculations, perform them and show the results.
Genetics Case Study Details
This Genetics Case Study assignment asks that you select a fictitious patient to study and analyze in a short report. Your patient will be chosen from those listed in the table below and researched via the link provided. After you’ve explored the background and specific details of your patient, you will analyze and write a final report that will address the following:
- Identify and Analyze Problem:
- Briefly describe your patient and his/her symptoms.
- Is there a probable genetic connection or cause? Explain your answer.
- What tests might be run to confirm or rule out a genetic connection? Describe how these tests work.
- What lifestyle or environmental factors may contribute or complicate the prognosis for your patient?
- From your exploration and research regarding this case study, describe any significant genetic risk for children of this patient.
- Recommendations for Effective Solutions/Strategies:
- What recommendations might you provide to this patient? To his/her family? Why?
Steps to follow:
- Access the Global Genetics and Genomics Community site
- Register for a free account
- Log in and click on the Cases link at the top of the page
- Select one of the 5 cases highlighted on the list below that relate to cases on the Global Genetics and Genomics site. Explore that particular case in full detail on the site. This information you discover will provide the basis of your final report.
- Compose your 2-3 page report with APA format, 12 point Arial font. Upload your properly named document (“LastFirstNameCaseStudy.docx”) to Schreiner One under Assignments to Module 6 Case Study.
- Your report will be graded using the Case Study Report Scoring Rubric.
| NAME | CASE |
| DAI
|
PATIENT INFORMATION: VITAL SIGNS: Height: 5’3” Weight: 115 lbs BP: 110/70 Pulse: 68 Resp: 16 Temp: 97.3
PRESENT CONCERN: Dai is a 42-year old healthy married Asian female who is pregnant with her first child. She presents for her first obstetrics appointment, asking about newborn screening and whole genome sequencing (WGS). She wants to be as proactive as possible in planning for her baby’s future health. As such, she would like to pursue WGS since this would fulfill the newborn screening requirement in the state where she will deliver her baby, as well as provide much more information about her baby’s long-term health. Dai feels it is important to begin inquiring about WGS now so that her baby could have WGS performed in place of the standard screening required for newborns. |
| TOM
|
PATIENT INFORMATION: VITAL SIGNS: Height: 6’4” feet Weight: 187 lbs BP: 148/70 Pulse: 80 Temp: 97.9
BACKGROUND: Insurance salesman, male, age 52, lifetime non-smoker, diagnosed with non-small cell lung cancer within the past 6 weeks. This is his first visit since he received his first chemotherapy treatment. He is presenting to his oncologist for discussion about an incidental finding of a germline EGFR mutation identified during tumor genetic analysis. He is being considered for participation in a research study that will involve germline genetic testing on a blood sample to confirm this finding. If confirmed, family members could also be tested and if mutation positive, undergo lung cancer screening. |
| MARIA | PATIENT INFORMATION: Healthy female, age 39, married for 15 years, vegetarian, marathon runner, avid exerciser, good body weight (low BMI), information seeker, has a teenage boy and a pre‐teen girl, both living with her and her husband. They live in a large city, downtown. Maria works at very stressful job as an accountant and is very computer literate. She does not have a routine primary care provider because she is otherwise healthy.
BACKGROUND: Maria is a New Patient to a local family practice; she had a full genome scan performed by a direct to consumer testing company. The results reveal an increased risk of cardiovascular disease and heart attack. |
| JEFF
|
PATIENT INFORMATION: VITAL SIGNS: Height: 6’3” feet Weight: 163 lbs BP: 128/72 Pulse: 70 Temp: 97.3
BACKGROUND: Career military, 41 year old male presenting for his annual active duty military physical with his wife accompanying him. He completed his annual WebHA survey online and also completed the new ACT for Health breast cancer risk assessment questionnaire because his Father has a history of breast cancer. The ACT for Health recommended that he would need follow-up with his healthcare provider because of his responses to the survey. |
| LISA
|
PATIENT INFORMATION: Age: 19 years old
BACKGROUND: Lisa is a healthy young woman who has come to the hospital to visit her 21 year old brother, Mark, who has cystic fibrosis (CF). He has been admitted with a lung infection. She has recently learned that she is pregnant and has some questions. Lisa’s brother suggested that she talk with you since he feels you have been so responsive to his questions. |
CASE STUDY REPORT SCORING RUBRIC
| CRITERION | STRONG (5) | AVERAGE (3) | WEAK (1) |
| Identification of Main Issues/Problems | Accurately identifies all key issues and complexities in the case. | Accurately identifies some but not all key issues and complexities in the case. | Does not identify issues or does not accurately identify all key issues and complexities in the case. |
| Analysis and Evaluation of Issues/Problems | Presents an insightful and thorough analysis of all identified issues/problems; includes all correct calculations to inform the analysis. | Presents a thorough analysis of most of the issues identified; missing some necessary calculations. | Presents a superficial or incomplete analysis of some of the identified issues; omits necessary calculations. |
| Recommendations on Effective Solutions/Strategies | Supports diagnosis and opinions with strong arguments and well-‐ documented evidence; presents a balanced and critical view; interpretation is both reasonable and objective. | Supports diagnosis and opinions with limited reasoning and evidence; does not present a balanced and critical view. | Little or no action suggested and/or inappropriate solutions proposed to the issues in the case study. |
| Links to Course Concepts | Makes appropriate and powerful connections between identified issues/ problems and the strategic concepts studied in the course. | Makes appropriate but somewhat vague connections between identified issues/problems and concepts studied in the course. | Makes inappropriate or little connection between issues identified and the concepts studied in the course. |
| Writing Mechanics and Formatting Guidelines | Demonstrates clarity, conciseness and correctness; formatting is appropriate and writing is free of grammar and spelling errors. | Occasional grammar or spelling errors, but still a clear presentation of ideas; lacks organization. | Writing is unfocused, rambling, or contains serious errors; poorly organized and does not follow specified guidelines. |
