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April 29, 2022

Describe the principles of genetics and genomics.

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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

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 educational needs for the client and family

Possible genetic testing for the disease you selected.

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