9.1 Unit Overview
Learning Objectives
- Describe how genetic differences influence drug responses.
- Explain the clinical significance of pharmacogenomic testing.
- Explore resources to aid in translating genetic test results into actionable decisions.
- Connect genomic data to real-world applications in drug therapy.
- Describe the limitations of pharmacogenomic testing.
Outline
Topics covered in this chapter include:
- Pharmacogenomics overview
- Genomic variation in drug response
- Personalized drug therapy
- Limitations of pharmacogenomic testing
Competencies Nurses will Develop in this Chapter
ANA (2023):
Nursing assessment: Applying/integrating genomic knowledge:
- Collects, reviews, and updates personal and family health history to include any genomic testing and environmental and other risk factors.
- Conducts health and physical assessments that incorporate knowledge about known or potential environmental, genomic, and other risk factors (e.g., behavioral, lifestyle).
Identification:
- Identifies credible, accurate, appropriate, and current genomic information, resources, services, and technologies specific to given clients.
Provision of education, care, and support:
- Performs interventions appropriate to clients’ genomic health care needs.
NHS (2023):
Identify individuals who might benefit from genomic services and information as part of assessing needs and planning care:
- recognizing the critical indicators of a potential genetic condition or clinical situation where genomics-informed healthcare would be appropriate.
Demonstrate knowledge and understanding of genomics in human development, variation and health to underpin effective practice:
- relating it to the maintenance of health and manifestation of conditions;
- relating it to the prevention and management of a genomic condition or response to treatment; and
- underpinned by core genomic concepts that form a sufficient knowledge base for understanding the implications of different conditions and clinical situations that may be encountered.
Apply knowledge, understanding and context of genomic testing and information to underpin care and support for individuals and families before, during and following decision-making:
- including types, uses and limitations of genomic tests to prevent, predict or treat a health condition, and an awareness of the processes for testing and return of results
Obtain and communicate reliable, current information about genomics for self, patients, families and colleagues:
- using information technologies and other information sources effectively to do so; and
- applying critical appraisal skills to assess the quality of information accessed.
Key terminology
Haplotype
A combination of multiple nucleotide changes within a particular gene. Please note that this term can have other meanings.
Pharmacogenomics
The study of how variation across the genome influences drug response. This term is often used interchangeably with pharmacogenetics or abbreviated to “PGx.”
Star allele
A method of labeling haplotypes in genes (e.g. *2, *3 etc.). Star allele definitions can be found at PharmVar.
Attribution & References
ANA (2023) Nursing Competencies are © American Nurses Association. Reprinted with permission. All rights reserved. Seek permission before reusing this portion of the page.
Except where otherwise noted, this page is adapted from:
References
American Nurses Association (ANA). (2023). Essentials of genomic nursing: Competencies and outcome indicators (3rd ed.). https://www.nursingworld.org/nurses-books/ana-books/ebook-essentials-of-genomic-nursing-competencies-/
National Health Service (NHS). (2023). The 2023 genomic competency framework for UK nurses. https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2023/12/2023-Genomic-Competency-Framework-for-UK-Nurses.pdf
