5.1 Unit Overview
Learning Objectives
- Identify key genomic approaches utilized in nursing research and their relevance to patient care.
- Explore barriers to achieving diversity in genomics research and strategies for equitable and inclusive participation.
- Outline the ethical, legal, and social challenges associated with genomic research, with a focus on informed consent, privacy, and inclusion of diverse populations.
- Explain how strategic plans like CIHR’s Sequencing our Future shape research priorities and funding decisions.
- Describe practical examples of knowledge translation (KT) and knowledge mobilization (KM) outputs.
Outline
Topics covered in this chapter include:
- Genomic research in nursing
- Human genetic research in Canada and Internationally
- Research priorities and funding
- Knowledge translation and mobilization
- Scholarly Posters
Competencies Nurses will Develop in this Chapter
ANA (2023):
Identification:
- Identifies ethical, ethnic or ancestral, cultural, religious, legal, fiscal, and societal issues related to genomic information and technologies.
- Recognizes issues that undermine the rights of all clients for autonomous, informed genomic-related decision-making and voluntary action.
Provision of education, care, and support:
- Advocates for autonomous, informed genomic-related decision-making.
- Evaluates the impact and effectiveness of genomic interventions on clients’ outcomes.
NHS (2023):
Advocate for the rights of all individuals to make informed decisions and act voluntarily:
- ensuring that the consent process is person centred; and
- promoting and supporting equitable access to genomic services.
Apply knowledge, understanding and context of genomic testing and information to underpin care and support for individuals and families prior to, during and following decision-making:
- incorporating awareness of the ethical, legal and social issues related to testing, recording, sharing and storage of genomic information and data.
Examine your own competency of practice on a regular basis:
- recognizing areas where professional development related to genomics would be beneficial; and
- maintaining awareness of clinical developments in genomics that are likely to be of most relevance to your area of practice, seeking further information on a case-by-case basis.
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
Candidate gene analysis
Genome-wide association study (GWAS)
A genome-wide association study is an approach that involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful in finding genetic variations that contribute to common, complex diseases, such as asthma, cancer, diabetes, heart disease and mental illnesses (NGHRI, 2020, para. 1).
Next-Generation DNA Sequencing (NGS)
DNA sequencing establishes the order of the bases that make up DNA. Next-generation DNA sequencing (abbreviated NGS) refers to the use of technologies for sequencing DNA that became available shortly after the completion of the Human Genome Project (which relied on the first-generation method of Sanger sequencing). Faster and cheaper than their predecessors, NGS technologies can sequence an entire human genome in a single day and for less than 1,000.
Symptom science
A field of research focused on understanding the biological and behavioral mechanisms underlying symptoms experienced by patients, such as pain, fatigue, and cognitive impairment.
Translational research
Often described as “bench to bedside,” because it involves taking discoveries from basic science (the bench) and applying them to clinical practice (the bedside).
Omics
The branches of science known informally as omics are various disciplines in biology whose names end in the suffix -omics, such as genomics, proteomics, metabolomics, metagenomics, phenomics and transcriptomics. Omics aims at the collective characterization and quantification of pools of biological molecules that translate into the structure, function, and dynamics of an organism or organisms. The related suffix -ome is used to address the objects of study of such fields, such as the genome, proteome or metabolome respectively (“Omics”, 2024, para. 1).
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:
- Talking Glossary of Genomic and Genetic Terms, Courtesy of: National Human Genome Research institute (NGHRI), Public Domain with attribution.
- Symptom science and translational research definitions written by Andrea Gretchev
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
National Human Genome Research Institute (NHGRI). (2020, August 17). Genome-Wide Association Studies Fact Sheet. Genome.gov. https://www.genome.gov/about-genomics/fact-sheets/Genome-Wide-Association-Studies-Fact-Sheet
Omics. (2024, November 23). In Wikipedia. https://en.wikipedia.org/wiki/Omics
