12.1 Unit Overview
Learning Objectives
- Identify the direct and indirect health consequences of environmental phenomena such as climate change, pollution, and natural disasters.
- Briefly explore the relevance of genomics to oncology.
- Distinguish between types of genomic variants in cancer.
- Examine various way genomics aids diagnosis and treatment in different medical specialties
Outline
Topics covered in this chapter include:
- Global health and genomics
- Cancer genomics
- Genomics applications by specialty
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/or information as part of assessing needs and planning care:
- recognizing the key indicators of a potential genetic condition, or clinical situation where genomics-informed healthcare would be appropriate;
- recognizing the importance of family history in assessing predisposition to a genetic condition;
- based on an awareness of the care pathways relevant to your role that incorporate genomics services and information; and
- taking appropriate and timely action to seek assistance from and refer individuals to genomics specialists, other specialists and peer support resources.
Demonstrate a 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 prior to, 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;
- recognizing that decision-making and testing in some situations may be time-critical; and
- incorporating awareness of the potential physical, emotional, psychological and social consequences of genomic information for individuals, family members and communities.
Examine your own competency of practice on a regular basis:
- recognizing areas where professional development related to genomics would be beneficial;
- 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; and
- based on an understanding of the boundaries of your professional role in delivering genomic healthcare including the referral, provision or follow-up to genomic services.
Provide ongoing nursing care and support to patients, carers, families and communities with genomic healthcare needs:
- being responsive to changing needs through the life-stages and during periods of uncertainty; and
- demonstrating awareness about how a genomic test result can have implications for family members and might impact on family dynamics.
Key terminology
Circulating tumour DNA (ctDNA)
As cancer cells grow very fast and die, they release some of their DNA into the bloodstream. We now have tests that are sensitive enough to detect and sequence these pieces of ctDNA in the bloodstream separately from the normal DNA of the patient – this is called a “liquid biopsy” (NHGRI, n.d.a).
BRCA1/2
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer and ovarian cancer. People with mutations in either BRCA1 or BRCA2 have a much higher risk for developing breast, ovarian or other types of cancer than those without mutations in the genes. Both BRCA1 and BRCA2 normally act as tumor suppressors, meaning they help to regulate cell division. Most people have two active copies of these genes. When one of the two copies becomes inactive due to an inherited mutation, a person’s cells are left with only one copy. If this remaining copy also becomes inactivated, then uncontrolled cell growth results, which leads to breast, ovarian or other types of cancer.
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.
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 Human Genome Research Institute (NHGRI). (n.d.a). Cancer genomics. https://www.genome.gov/dna-day/15-ways/cancer-genomics
National Human Genome Research Institute (NHGRI). (n.d.b). Talking glossary of genetic and genomic terms. https://www.genome.gov/genetics-glossary
