Competency

Describe the principles of genetics and genomics.

Scenario

As you work with your preceptor, you learn that she is planning a training session for all new nurses to familiarize them with principles of genetics and genomics using data from a three-generation family pedigree. She asks your help in building a pedigree and genogram to reflect inherited genetic disease processes. You agree to do some reading and describe a genetic disorder and provide a genogram that would indicate how this disorder is transferred over generations. Your preceptor asks you to pick one from this list:

Duchenne Muscular Dystrophy
Hemochromatosis
Neurofibromatosis
Turner Syndrome
Von Willebrand Disease

Instructions

After you pick one, create a brief 3-5 slide presentation using Microsoft PowerPoint and a free recording software compatible with PC and MAC computers, Screencast -O-Matic. Follow these instructions to download and use this software to create your presentation.

Access the Screencast-O-Matic homepage by clicking on the box in the upper right-hand corner titled, “Sign Up” to create your free account.
Create a free account (be sure to write down the email and password created for account access.)
Once logged in, click on the “Tutorials” link at the top of the homepage and view 1. Recorder Intros
Create your presentation by clicking on the “Start Recorder” box.
Once finished recording, click on the “Done” button.
Next, choose, “Upload to Screencast-O-Matic.”
Select “Publish.”
Choose “Copy Link”
Place the “Link” in a Microsoft Word document and then upload this document to the assignment drop box.
For additional assistance on creating a Screencast-O-Matic, please visit the Library and Learning Services Answers page: How do I make a video of a PowerPoint presentation using Screencast-O-Matic?
Address the following principles of genetics and genomics:

Create a three-generation family pedigree and genogram with standard symbols with the interpretation of results explained using standard terminology
Definition of your chosen genetic disorder and how it presents in clients
Possible genetic testing for the disease you selected

Select a sexually transmitted infection (STI) and do research on it. Write a 3-5 page paper about the condition/issue. In the paper discuss the concepts below:

What is the pathophysiology of one STI
What is the etiology of the selected STI
What are the clinical manifestations of the selected STI
What is the treatment for the selected STI
Use at least one scholarly source to support your findings. Examples of scholarly sources include academic journals, textbooks, reference texts, and CINAHL nursing guides. Be sure to cite your sources in-text and on a References page using APA format.

You can find useful reference materials for this assignment in the School of Nursing guide:

Provide the background and history for a patient. Include the history of present illness (what brought them to the hospital), past medical history, relevant labs, diagnostic tests and vital signs. (30 points) CHOOSE DIAGNOSIS 1. HYPERTENSION 2. HYPERLIPIDEMIA
What is the pathophysiology of each of the disease processes? (20 points)
Discuss a minimum of five risk factors related to the disease process. (10 points)
What risk factors for each disease process did your patient experience? (10 points)
What assessment findings would you anticipate finding in a patient with each diagnosis? (10 points)
What diagnostic testing and labs would you examine for each diagnosis and why? (10 points)
You have received a call about your patient from a provider covering for the patient you are taking care of. They have no history on your patient. Summarize, using SBAR, the first three components of SBAR (Situation, Background and Assessment) for the patient you have taken care of, including all of the information above. (10 points)