1.1 Unit Overview
Learning Objectives
- Define common genomic terms.
- Establish the relevance of genomics for nursing and the need for nurses to become literate in this emerging knowledge form.
- Describe nurses’ distinct and overlapping contributions to the interdisciplinary team delivering genomics-informed care.
- Identify policies to guide genomics-informed nursing practice.
- Explore professional organizations for nurses interested in genomics.
Outline
Topics covered in this chapter include:
- Genetics and genomics introduction
- The contributions of nursing professionals in genomics healthcare
Competencies Nurses will Develop in this Chapter
ANA (2023):
Nursing assessment: Applying/integrating genomic knowledge:
- Demonstrates an understanding of the relationship of genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
Provision of education, care, and support:
- Advocates for autonomous, informed genomic-related decision-making.
- Provides genomic health care in collaboration with interdisciplinary professionals and when possible clients and their families.
NHS (2023):
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 referral, provision, or follow-up of genomic services.
Provide ongoing nursing care and support to patients, caregivers, families and communities with genomic healthcare needs:
- working in partnership with family members, multidisciplinary teams, and other agencies in the management of conditions.
Key terminology
Family history
A family health history is a record of the diseases and health conditions of an individual and that person’s biological family members, both living and deceased. A family history can help determine whether someone has an increased genetic risk of having or developing certain diseases, disorders or conditions. It is often recorded by drawing a pedigree (a family tree) that illustrates the relationships among individuals.
Gene
The gene is considered the basic unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify physical and biological traits. Most genes code for specific proteins, or segments of proteins, which have differing functions within the body. Humans have approximately 20,000 protein-coding genes.
Genetics
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
Genome
The genome is the entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus, as well as a small chromosome in the cell’s mitochondria. A genome contains all the information needed for an individual to develop and function.
Genomics
Genomics is a field of biology focused on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all the genes and functional elements in an organism’s genome as well as how they interact.
Human Genome Project
The Human Genome Project was a large international, collaborative effort that mapped and sequenced the human genome for the first time. Conducted from 1990 to 2003, the project was historic in its scope and scale as well as its groundbreaking approach for the free release of genomic data well ahead of publication, leading to a new ethos for data sharing in biomedical research.
Inherited
Inherited, as related to genetics, refers to a trait or variants encoded in DNA and passed from parent to offspring during reproduction. Inheritance is determined by the rules of Mendelian genetics.
Precision medicine (also referred to as precision healthcare/medicine or personalized medicine)
Precision medicine (generally considered analogous to personalized medicine or individualized medicine) is an innovative approach that uses information about an individual’s genomic, environmental and lifestyle information to guide decisions related to their medical management. The goal of precision medicine is to provide more a precise approach for the prevention, diagnosis and treatment of disease.
Protein
Proteins are large, complex molecules that play many important roles in the body. They are critical to most of the work done by cells and are required for the structure, function and regulation of the body’s tissues and organs. A protein is made up of one or more long, folded chains of amino acids (each called a polypeptide), whose sequences are determined by the DNA sequence of the protein-encoding gene.
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 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). (n.d.). Talking glossary of genetic and genomic terms. www.genome.gov
