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January 31, 2024

Describe the principles of genetics and genomics.

Competency

Describe the principles of genetics and genomics.

Transferable Skill

Critical Thinking

Scenario

Your preceptor is planning a training session for all new nurses to review principles of genetics and genomics using data from a three-generation family pedigree. The preceptor asks for your help building a genogram to demonstrate patterns of inheritance. You agree to do some reading, 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 disorder from the list below:

Duchenne Muscular Dystrophy

Hemochromatosis

Neurofibromatosis

Hemophilia A

Tay-Sachs disease

Von Willebrand Disease

X-linked adrenoleukodystrophy

Instructions

Include this content in your Word document:

Description of the selected genetic disorder, including clinical manifestations and pattern of inheritance.

A three-generation family pedigree and genogram with standard symbols and terminology.

Analysis of the pedigree and genogram, including:

Identification of affected and carrier individuals

Actual and potential health risks

Explanation of the methods of genetic testing for the selected disorder.

Description of the educational needs of the client and family, including specific examples and supporting rationales.

Correct grammar, spelling and APA style and format required.

Resources

FAQ: I have been asked to create a pedigree/genogram for my nursing course. Help!

National Human Genome Research Institute. (2022, July 8). Pedigree.

National Human Genome Research Institute. (2022, July 8). Family history.

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