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For this assignment, you will choose between two case studies: Gabe or Larry. Listen to your chosen case study carefully, as the interview details are key to constructing an accurate pedigree and answering the questions below.
Select either “Gabe” and “Gabe #2” OR” Larry” on genomicscases.net and listen to all of the questions and answers provided in the interview of your 1 chosen case study.
To access all of the questions, click on “CLICK HERE TO CHOOSE ANOTHER QUESTION”.
If you choose the case study of Gabe, please be sure to watch both “Gabe” and “Gabe #2” case studies.
Do not complete the questions/assignments from the website.
Review the information provided about your chosen case study on the website before starting to build your pedigree. Be sure to use Bennett et al. guidelines.
After constructing your pedigree, answer the corresponding questions with the case study you have chosen (either Gabe or Larry)
After constructing your pedigree, answer the corresponding questions with the case study you have chosen (either Gabe or Larry). Both your answers and the pedigree should be in the same document file.
If your pedigree is hand drawn, you will have to scan it into a .doc, .docx, or .pdf file or take a picture. Hand drawn pedigree must be clear and legible.
Copy and paste your pedigree to whatever format you choose (e.g., Word, PowerPoint) to answer the questions below. It would be best to add the pedigree in the Landscape orientation for easier viewing.
References should not be older than 5 years old.
**PLEASE NOTE:
For Gabe (1st case study) case study, there is an error. The case study states he is 44, though he is 55.
For Larry case study, be sure to review the most current drug package insert, not the one provided on the website.
Questions:
Be sure to answer the following questions in 2 paragraphs per question and attach your answers with your pedigree submission. Follow APA format for title page, format, in-text citations, and references (including pedigree programs, if used).
QUESTIONS FOR GABE (Be sure to watch both Gabe interviews – Gabe and Gabe #2)
Explain the pharmacogenomic testing available to evaluate warfarin metabolism. Specifically, explain the different genotypes (alleles) of CYP2C9, what each causes, how they affect warfarin metabolism, and the recommended changes in dose. Will INR levels still be used to monitor the dose? What is the chromosomal location of the CYP2C9 gene?
Explain the pharmacogenomic testing available to evaluate warfarin metabolism. Specifically, explain the mechanism of the VKORC1 gene, its different genotypes (alleles), how they affect warfarin metabolism, and the recommended changes in dose. Will INR levels still be used to monitor the dose? What is the chromosomal location of the VKORC1 gene?
Does the FDA recommend or require this testing before starting warfarin? Look at current FDA Package Insert.
Two hereditary syndromes related to colon cancer include Lynch syndrome and FAP. Explain Lynch Syndrome and FAP, and the defining characteristics of each. Identify the red flags in Gabe’s family history. Do any of these match the characteristics of Lynch or FAP? Based on your findings, if you were his nurse, what would you do?
Based on Gabe’s history, how often should he receive colonoscopies? (See attached algorithm)
What are the nursing implications? What should Gabe’s nurse do next?
QUESTIONS FOR LARRY’S CASE STUDY
Explain mechanism of action, general indications, contraindications, and risk factors/side effects of clopidogrel.
How is clopidogrel metabolized? What enzymes are necessary? Explain why a patient taking clopidogrel should avoid CYP2C19 inhibitors. What happens if a patient taking clopidogrel also takes a CYP2C19 inhibitor? Give some examples of strong, moderate, and weak CYP2C19 inhibitors.
Discuss the use of CYP2C19 testing related to clopidogrel dosage/response. What are the possible different genotypes (alleles) and how do they affect response?
Explain how race/ethnicity can influence response to clopidogrel. Provide the most common ethnicities of poor metabolizers. What are the percentages in these populations?
Describe the current status of the FDA boxed warning for clopidogrel regarding drug response in poor metabolizers. Does the FDA recommend testing before starting clopidogrel?
What are the nursing implications? What should Larry’s nurse do next?
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