Case Study (20%)

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


Case Study Assignment Overview

Each person will 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.  

Prepare for this assignment by reading the textbook’s relevant chapters, the family history tool and Punnett Square information in chapter 8 in our textbook and the Genetics Home References available at  (Links to an external site.)and other recent relevant research articles from the library databases.

Disease (inheritance pattern):

  3. Instructions

Present this case study in the discussion group by compiling the following six numbered parts (1-6 below) into one PowerPoint document, posting it as an attachment within the group discussion area for peer review and instructor grading. The Educational packet (handout) needs to be in a separate document (Word or pdf).   

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 what age is this disease likely to be demonstrated, and in what gender? What symptoms or signs are likely to bring the condition to the attention of the parents and medical professionals?
  2. To prepare yourself to talk to this family, demonstrate understanding of the inheritance pattern for this condition by providing either a. or b. below (choose one)

a.) preparing a pedigree chart showing three generations’ risk for this disease using standard symbols and terminology. Start with a current family member who is affected (proband) and 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 all possibilities for a genetic inheritance for children of the proband’s siblings). A helpful tool may be found at (Links to an external site.)

b.) developing a Punnett square to show how the disease is inherited, based on its’ single-gene recessive or dominant and sex-linked or autosomal characteristics. If the disease is recessive, both parents in the square will have the recessive gene. Explain the genotypic inheritance shown in the square.

  2. When the family comes to you as an RN caring for this family, what are the most likely questions and concerns they will have? List them (based on evidence). You will provide answers to each of these questions in step
  3. Aside from the pedigree chart/Punnett square, what educational resources will you provide to the family as you educate them? Use sources that focus on genetic inheritance in general and on the specific disease, appropriate for laypersons. Include primary, secondary, and tertiary levels of prevention. Don’t list websites; either download and include these resources, or prepare them yourself, citing scholarly sources. It is okay to copy and paste as long as attribution is cited. This should be a packet (handout) ready to give to this patient/family. The goal is to include educational material on the specific disease and its’ inheritance that is ready to deliver to a family with the problem. Your educational material needs to be in a separate document (Word or pdf).
  4. What referrals will you make in your local community for advanced genetic testing, genetic counseling, and support for the condition? Provide a clear and accessible list. A goal is to learn referral sources for potential use in your ‘real’ nursing
  5. What special considerations will you need to include as you educate and refer these clients? Include possible ethical, religious, financial, and cultural issues which the family may face as they deal with this condition. These may be based on the family’s culture, proband’s age, and/or potential inheritance of the condition by future children or future. There will be significant importance attached to this element.
  6. Sources: List all sources used and cited in preparation of this case study in APA format references.


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