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Posted: July 21st, 2024
Genetics and Genomics in Nursing Practice: An Overview for New Graduate Orientation
The integration of genetics and genomics into nursing practice has become increasingly crucial in recent years. As healthcare continues to advance, nurses must possess a solid understanding of genetic principles and their applications in patient care. This paper aims to provide an overview of key concepts in genetics and genomics, focusing on genetic assessment, family history analysis, and the identification of disease patterns and risk factors.
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Translating Family History into a Three-Generation Family Genogram
A family genogram is a visual representation of a family's medical history, typically spanning three generations. It uses standardized symbols and terminology to illustrate relationships, health conditions, and potential genetic patterns. When constructing a genogram, nurses should adhere to the following guidelines:
Use squares to represent males and circles for females.
Draw horizontal lines between partners and vertical lines to connect parents to children.
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Include birth dates (and death dates if applicable) for each individual.
Note any relevant health conditions using color codes or abbreviations.
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Indicate adopted individuals with a dashed line.
Use diagonal lines to represent twins (one line for identical, two for fraternal).
By creating a comprehensive genogram, nurses can quickly identify patterns and potential genetic risks within a family (Burke et al., 2020).
Explaining Potential Associated Patterns of Disease
Genetic Patterns
Genetic disease patterns can be categorized into several inheritance modes:
Autosomal dominant: A single copy of the mutated gene from one parent is sufficient to cause the condition. Examples include Huntington's disease and familial hypercholesterolemia.
Autosomal recessive: Both copies of the gene must be mutated for the condition to manifest. Examples include cystic fibrosis and sickle cell anemia.
X-linked: The mutated gene is located on the X chromosome. Males are typically more affected than females. Examples include hemophilia and Duchenne muscular dystrophy.
Mitochondrial: Inherited exclusively from the mother through mitochondrial DNA. Examples include Leber hereditary optic neuropathy and mitochondrial myopathy.
Environmental Patterns
Environmental factors can significantly influence disease development, often interacting with genetic predispositions. Key environmental patterns to consider include:
Occupational exposures: Certain professions may increase the risk of specific conditions due to exposure to hazardous materials or environments.
Lifestyle factors: Diet, exercise habits, and substance use can impact disease risk and progression.
Geographic location: Some regions may have higher prevalence of certain conditions due to environmental factors or founder effects in isolated populations.
Socioeconomic status: Access to healthcare, nutrition, and living conditions can affect health outcomes.
Understanding these patterns allows nurses to provide more targeted care and education to patients and families (Tsunoda & Guttmacher, 2018).
Family History Patterns Indicating Increased Disease Risk
Several family history patterns may suggest an increased risk of genetic disorders or hereditary conditions:
Multiple affected family members: When several relatives have the same or related conditions, it may indicate a genetic predisposition.
Early onset of disease: Conditions appearing at unusually young ages can suggest genetic factors.
Ethnic background: Certain genetic disorders are more common in specific populations.
Consanguinity: Marriages between close relatives increase the risk of autosomal recessive conditions.
Gender-specific patterns: Some conditions primarily affect one gender, which may indicate X-linked inheritance.
Clustering of related conditions: The presence of multiple related disorders within a family may suggest a genetic syndrome or predisposition.
Nurses should be vigilant in identifying these patterns during family history assessments to provide appropriate guidance and referrals (Laaksonen et al., 2023).
Indications for Potential Genetic and Genomic Services
Nurses play a crucial role in identifying patients who may benefit from genetic and genomic services. Key indications include:
Family history of known genetic disorders or hereditary cancer syndromes.
Multiple relatives with the same or related conditions.
Birth defects or developmental delays in children.
Unusual physical features or growth patterns.
Unexplained medical symptoms or conditions resistant to standard treatments.
Ethnic background associated with increased risk for specific genetic disorders.
Couples planning pregnancy with a family history of genetic conditions.
Individuals seeking predictive testing for late-onset genetic disorders.
When these indications are present, nurses should consider referring patients to genetic counseling or specialized genetic services for further evaluation and guidance (National Society of Genetic Counselors, 2021).
The integration of genetics and genomics into nursing practice is essential for providing comprehensive, personalized care. By understanding genetic principles, recognizing disease patterns, and identifying at-risk individuals, nurses can significantly contribute to early detection, prevention, and management of genetic conditions. As the field continues to evolve, ongoing education and training in genetics and genomics will be crucial for nurses to maintain competence and provide optimal patient care (Mak & Chan, 2024).
References
Burke, W., Emery, S., & Walton, E. (2020). Family history assessment in nursing practice: A review of the literature. International Journal of Nursing Studies, 101, 103459. https://doi.org/10.1016/j.ijnurstu.2019.103459
Laaksonen, M., Airikkala, E., Halkoaho, A., & Paavilainen, E. (2023). A Scoping Review: Do instruments measuring genomic competence in nursing incorporate ethics? Nursing Open, 10(8), 4932-4947. https://doi.org/10.1002/nop2.1569
Mak, S. S. S., & Chan, M. L. T. (2024). How Nurses face a New Era of Genomics Medicine and Precision Health: Oncology Nurse Clinicians Perspective. Asia-Pacific Journal of Oncology Nursing, 11(1), 100241. https://doi.org/10.1016/j.apjon.2023.100241
National Society of Genetic Counselors. (2021). NSGC Practice resource: Core competencies for genetic counselors. https://www.nsgc.org/Portals/0/Docs/Education/ACGC-Core-Competencies-Brochure_15_Web.pdf
Tsunoda, A., & Guttmacher, A. E. (2018). Integrating genomics into nursing education: A call to action. Journal of Nursing Education, 57(6), 339-344. https://doi.org/10.3928/01484834-20180522-03
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NUR3306CBE Section 01CBE Integration of Genetics and Genomics into Ethical Nursing Practice (11 Weeks) - CBE Online Course - 2024 Summer Quarter
Deliverable 4 - Principles of Genetics and Genomics
Assignment Content
1.
Competency
Describe the principles of genetics and genomics.
Student Success Criteria
View the grading rubric for this deliverable by selecting the “This item is graded with a rubric” link, which is located in the Details & Information pane.
Scenario
You recently assumed a new role as a preceptor and were asked to create a training session for new graduate orientation. Your topic for this training session is genetics and genomics in nursing practice. Training will include performing a genetic assessment, creating a three-generation family genogram with standard symbols and terminology, explaining disease patterns, describing history patterns that increase risk of disease and identifying possible indications for genetic and genomic services. To prepare for the training session, you complete a three-generation family pedigree and examine the influence of genetics and genomics on your family.
Instructions
Complete a three-generation family pedigree and genogram on yourself, a family member, or a friend,
In a Word document, include the following information:
o Translate a family history to a three-generation family genogram with standard symbols and terminology.
o Explain potential associated patterns of disease, including:
o Genetic patterns
o Environmental patterns
o Describe family history patterns that would put clients at an increased risk of disease
o Explain indications for potential genetic and genomic services
o All content must be supported by providing evidence from credible sources
Assessment Requirements/Submission Requirement:
Word Document
Resources
FAQ: I have been asked to create a pedigree/genogram for my nursing course. Help! (https://rasmussen.libanswers.com/faq/236834)
National Human Genome Research Institute. (2022, July 8). Pedigree. https://www.genome.gov/genetics-glossary/Pedigree
National Human Genome Research Institute. (2022, July 8). Family history. https://www.genome.gov/genetics-glossary/Family-History
For additional writing and research support, please visit the following Library and Learning Services resources:
o APA Guide
o Nursing Research Page
o How do I know if a source is credible?
• Rubric
• A - 4 - Mastery
Comprehensive translation of family history to a three-generation family genogram with standard symbols and terminology .
0
B - 3 - Proficiency
Satisfactory translation of family history to a three-generation family genogram with standard symbols and terminology .
0
C - 2 - Competence
Somewhat reasonable translation of family history to a three-generation family genogram with standard symbols and terminology .
0
F - 1 - No Pass
Partial translation of family history to a three-generation family genogram with standard symbols and terminology .
0
I - 0 - Not Submitted
Not Submitted
0
• Criterion 2
0% of total grade
A - 4 - Mastery
Comprehensive explanation of potential associated patterns of disease, including genetic and environmental patterns, supported with superior evidence from credible sources.
0
B - 3 - Proficiency
Sufficient explanation of potential associated patterns of disease, including genetic and environmental patterns, supported with satisfactory evidence from credible sources.
0
C - 2 - Competence
Somewhat reasonable explanation of potential associated patterns of disease, including genetic and environmental patterns, supported with some evidence from credible sources.
0
F - 1 - No Pass
Partial explanation of potential associated patterns of disease, including genetic and environmental patterns, supported with minimal evidence from credible sources.
0
I - 0 - Not Submitted
Not Submitted
0
• Criterion 3
0% of total grade
A - 4 - Mastery
Comprehensive description of family history patterns that would put clients at an increased risk of disease supported with superior evidence from credible sources.
0
B - 3 - Proficiency
Sufficient description of family history patterns that would put clients at an increased risk of disease supported with satisfactory evidence from credible sources.
0
C - 2 - Competence
Somewhat reasonable description of family history patterns that would put clients at an increased risk of disease supported with some evidence from credible sources.
0
F - 1 - No Pass
Partial description of family history patterns that would put clients at an increased risk of disease supported with minimal evidence from credible sources.
0
I - 0 - Not Submitted
Not Submitted
0
• Criterion 4
0% of total grade
A - 4 - Mastery
Comprehensive explanation of e indications for potential genetic and genomic services supported with superior evidence from credible sources.
0
B - 3 - Proficiency
Sufficient explanation of e indications for potential genetic and genomic services supported with satisfactory evidence from credible sources.
0
C - 2 - Competence
Somewhat reasonable explanation of indications for potential genetic and genomic services supported with some evidence from credible sources.
0
F - 1 - No Pass
Partial explanation of e indications for potential genetic and genomic services supported with minimal evidence from credible sources.
0
I - 0 - Not Submitted
Not Submitted
0
• Criterion 5
0% of total grade
A - 4 - Mastery
Formal style is demonstrated throughout the document, including no spelling, grammar, or APA format errors.
0
B - 3 - Proficiency
Formal style is demonstrated throughout the document, with minor spelling, grammar, or APA format errors.
0
C - 2 - Competence
Formal style is demonstrated in some parts of the document but not maintained throughout. Some spelling, grammar, or APA format errors present.
0
F - 1 - No Pass
Lack of formal style in document. Numerous spelling, grammar, or APA format errors are present.
0
I - 0 - Not Submitted
Not Submitted
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