Reference no: EM132542565

Assignment for Genetics and Genomics in Nursing and Health Care

Case Study

This assignment provides students with the opportunity to achieve the following course objectives by applying concepts learned in the course to a theoretical patient/family care situation.

1. Describe comprehension of the basic human patterns of biological inheritance within families and

2. Utilize knowledge of disease-associated genetic variations to identify healthcare interventions for the prevention, diagnosis, and treatment options for patients, families, and

Additionally, The American Nurses Association (2008) Identifies the following relevant genetics competencies for nurses:
• Recognize when one's own attitudes and values related to genetic and genomic science may affect care provided to
• Advocate for clients' access to desired genetic/genomic services and/or resources including support
• Incorporate genetic and genomic technologies and Information into registered nurse
• Demonstrate In practice the importance of tailoring genetic and genomic Information and services to clients based on their culture, religion, knowledge level, literacy, and preferred

Case Study Assignment

Each person will be assigned /choose one of the following diseases/conditions and prepare a case study for an imaginary family who has requested from you, as an RN, Information about the condition including their risks/concerns that others in the family (including future generations) will be affected. Then, each student will present your findings to a discussion group. Each students will respond to the case study by answering specific questions listed In Part 13 (below).

Prepare for this assignment by reading textbook's relevant chapters, the s family history tool and Punnett Square information In chapter 8 in our textbook and the Genetics Home.
Disease (inheritance pattern):
• Von Willebrand Disease (AD)
• Sickle Cell Disease (AR)
• Cystic Fibrosis (AR)
• Fragile X (XD)
• Hemophilia (XR)
• (Only If your group has 6 students, will this be used: ADO blood group f Co-D), phenotype AB)

Instructions

Present this case study to your discussion group by compiling the following six numbered parts (1-6 below) into one Por discussion area for peer review and instructor grading. The Educational packet (handout) needs to be in a separate docu start a thread using the name of 'your' condition in the Case Studies Discussion Forum for your group. When completed. your group will comment in this thread (see `Peer Response Questions' in Part B. below).
provide evidence-based information for each of these (and cite and list your sources):

1. Identify the person most likely to show signs of the disease (phenotype). bringing it to the attention of the family. At w gender? What symptoms or signs are likely to bring the condition to the attention of the parents and medical professi(

2. To prepare yourself to talk to this family demonstrate understanding of the inheritance pattern for this condition by p a.) preparing a pedigree chart showing three generations' risk for this disease using standard symbols and terminology. St provide genetic inheritance/risk for that person's parents. the proband and three siblings, and four
potential children of each person in the proband's generation (four potential children provide the opportunity to identify a proband's
b.) developing a Punnett square to show how the disease is inherited. based on its' single-gene recessive or dominant and SE both parents in the square will have the recessive gene. Explain the genotypic inheritance shown in the square_

3. When the family comes to you as an RN caring for this famity what are the most likely questions and concerns they will f each of these questions in step

4. Aside from the pedigree chart/Punnet square what educational resources will you provide to the family as you educate general and on the specific disease appropriate for lay persons. Include primary, secondary, and tertiary levels of preven1 resources. or prepare them yourself. citing scholarly sources. It is okay to copy and paste as long as attribution is cited.

5. What will you make in your loom community for advanced genetic testing, genetic counseling. and support for the learn referral sources for potential use in your 'real' nursing

6. What special considerations will you need to include as you educate and refer these clients? Include possible ethical religion they deal with this condition. These may be based on family's cularre. Proband's age, and/or potential inheritance