Choose one of the case studies: either Peggy or Jeff & Maria. View the case study.
For this assignment you will construct a complete pedigree for either Peggy or Jeff and answer the questions in this assignment.
Construct a pedigree for Peggy or Jeff following Bennetts standardized nomenclature. Bennett is posted on Blackboard. Review the material on pedigree construction from the synchronous session. Review additional pedigree construction instructions here:
Once you have constructed the pedigree, answer the following questions (choose Peggy or Jeff):
Answers should be a minimum of 2 paragraphs per question, double-spaced, in paragraph format, with complete sentences and proper grammar. Remember to use references and proper APA citation.
Peggy Case Study Questions (10 points/question)
- Describe the causes of PTSD. Explain the symptoms and categories (re-experiencing, avoidance, negative cognition and mood, and hyperarousal) of PTSD.
- Describe the risk factors of and the influence of personal/family history on PTSD. Is it hereditary? What genes, if any, are involved? Is Peggy at risk for PTSD? Why, or why not?
- What is the Genetic Information Nondiscrimination Act (GINA) and what protection does it provide?
- Explain the protections, and lack of protections provided by GINA. Which groups does GINA protect, and which groups does GINA not protected? Which types of insurance does GINA not apply to?
- Does Peggys family history exhibit any red flags, as defined by the F-GENES red flags list? What are the nursing implications? What should Peggys healthcare provider do next?
- Peggy tells you she has a cousin in your home town. Using the NSGC genetic search website, (or google NSGC Find a Genetics Counselor), find the closest genetics professional/practice who you could refer this family member to for psychiatric disorder counseling. Search by state, as there are not many providers. Provide the name and contact information, and report how far the family member would have to travel to see this practitioner.
Jeff Case Study Questions (10 points/question)
- Explain the Mendelian pattern of transmission associated with BRCA 2. Use appropriate terms (autosomal/dominant/recessive, heterozygous/homozygous, alleles). What is the gene involved and where is its locus?
- Identify the cancer risks for men and women with a BRCA2 mutation. What cancers are they at risk for, and what is their lifetime percentage risk for each of these cancers?
- What is the Genetic Information Nondiscrimination Act (GINA) and what protection does it provide?
- Explain the protections, and lack of protections provided by GINA. Which groups does GINA protect, and which groups does GINA not protected? Which types of insurance does GINA not apply to?
- Does Jeffs family history exhibit any red flags, as defined by the F_GENES red flags list? What are the nursing implications? What should Jeffs healthcare provider do next?
- Jeff tells you he has a cousin in your home town. Using the NCI genetic search website, find the closest genetics professional/practice who you could refer this family member to for BRCA testing and/or counseling. Provide the name and contact information, and report how far the family member would have to travel to see this practitioner.
Review the RUBRIC in the syllabus. Remember to put your name on your paper and upload the pedigree and answers to the questions as one WORD document.
Additional Instructions about Pedigree Assignments:
DO NOT PAY FOR A PEDIGREE SERVICE OR PROGRAM!
The following websites offer free trial downloads. (Please do not buy any programs solely for the purpose of this assignment.) Or you can search the internet to find a program that works for you.
- Surgeon Generals Family Health History –
- Cyrillic includes downloadable demos.
- Progeny Genetics –
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