NURS6030: Genetics and Genomics in Advanced Nursing Practice – Assessment.

This course prepares advanced practice nurses to integrate genetic and genomic knowledge into clinical care. You will focus on risk assessment, identifying hereditary patterns, and applying ethical frameworks to genomic technologies.

Assignment 2: Family Genetic History and Clinical Risk Assessment

Overview

As an advanced practice nurse, your ability to translate complex genetic data into actionable patient care is vital. This assignment requires you to conduct a comprehensive family health history, construct a formal pedigree, and analyze the findings to develop a personalized screening and management plan.

Instructions and Guidelines

1. Patient Selection and Interview

   • Select a volunteer (patient, peer, or family member) to undergo a genetic risk assessment.

   • Conduct a three-generation family history interview.

   • Document specific pathologies, ages of onset, and causes of death.

2. Pedigree Construction

   • Create a formal three-generation pedigree using standardized nomenclature.

   • Clearly identify the Proband (the individual being studied).

   • Use appropriate symbols for gender, affected status, and deceased individuals.

3. Genomic Risk Analysis

   • Identify potential patterns of inheritance (e.g., Autosomal Dominant, Autosomal Recessive, X-linked).

   • Evaluate red flags such as early-onset disease, bilateral involvement in paired organs, or multiple primary tumors.

   • Discuss the role of epigenetics or environmental factors that may influence the phenotypic expression of the identified risks.

4. Clinical Management Plan

   • Recommend specific genetic testing if warranted by the family history.

   • Provide evidence-based screening recommendations (e.g., earlier colonoscopy or mammography schedules).

   • Address the ethical, legal, and social implications (ELSI) of the findings, including GINA (Genetic Information Nondiscrimination Act) protections.

Discussion Board Requirements

• Initial Post: Summarize your case findings and your clinical reasoning for the management plan.

• Peer Responses: Evaluate two colleagues’ plans. Specifically, suggest one alternative genomic resource or specialized database (e.g., ClinVar or OMIM) that could enhance their assessment.

 Peer-Reviewed References

• Beery, T. A., Workman, M. L., and Eggert, J. A. (2022). Genetics and Genomics in Nursing and Health Care. 3rd edn. Philadelphia: F.A. Davis Company. https://www.google.com/books/edition/_/O5pREAAAQBAJ

• Calzone, K. A., et al. (2024). ‘The Evidence for Genetics and Genomics Nursing Practice’, Journal of Nursing Scholarship, 56(1), pp. 45-58. https://doi.org/10.1111/jnu.12942

• Jenkins, J. and Lorence, A. (2023). ‘Integrating Genomics into Advanced Nursing Practice: Barriers and Facilitators’, Annual Review of Nursing Research, 41(1), pp. 112-130. https://doi.org/10.1891/0739-6686.41.112

• National Human Genome Research Institute (2025). Genomics and Clinical Practice for Advanced Practice Nurses. Available at: https://www.genome.gov/health/Genomics-and-Medicine