Basic Genetics and Genomics: A Primer for Nurses
Lea, Dale Halsey, Online Journal of Issues in Nursing
The completion of the Human Genome Project is leading to a new type of medicine, called personalized medicine. The goal of personalized medicine is to create a healthcare plan that encompasses not only traditional factors, such as patient preferences and cholesterol levels, but also a person's genetic and genomic information. This approach should allow providers to prescribe more specific and individualized treatment and to avoid adverse drug and treatment reactions. A basic knowledge of genetic terms and concepts and an understanding of genomics can provide nurses with a foundation that will enable them to provide competent, personalized healthcare. This article will review the basic genetic structures and functions, explain cellular and genetic changes, discuss genetic inheritance, describe chromosomal variations, and share applications of genetics and genomics for nursing practice.
Key Words: chromosomes, direct -to-consumer genetic testing, essential nursing competencies in genetics and genomics, family history, genes, genetic screening, genetic testing, genetics, genomics, Mendelian inheritance patterns, pharmacogenetics, pharmacogenomics
The Human Genome Project (HGP) was an international research effort to read and map all of the genes in the human body, which together are known as the human genome. The HGP, completed in April of 2003, gave scientists the ability, for the first time, to read the complete genetic blueprint for building a human being (National Human Genome Research Institute [NHGRI], 2008b). As a result of human genome discoveries, it is now known that genetic factors play a role in nine of the ten leading causes of death in the United States, including heart disease, cancer, and diabetes. Human genome research is also leading to a better understanding of the interactions between genes and the environment and helping to find better ways to improve health and prevent disease (NHGRI, 2008c).
The completion of the HGP, by opening new doors for understanding the underlying causes of rare and common diseases, is leading to a new type of medicine, called personalized medicine. Personalized medicine is transforming healthcare. Learning about the influence of genetic and genomic factors on health and disease is leading towards earlier diagnosis, more effective and individualized prevention and treatment of disease, better response to treatments, and improved health outcomes (NHGRI, 2008i).
For many, the term genetics brings up memories of pea plants and rare disorders caused by single genes. A newer term, genomics, refers to all of the genes in the human genome and their interactions with each other, the environment, and other cultural and psychosocial factors (Consensus Panel, 2006). The goal of personalized medicine is to create a healthcare plan that encompasses not only traditional factors, for example patient preference and attributes such as the Body Mass Index and cholesterol levels, but also a person's genetic and genomic information. This approach should allow providers to prescribe
more specific and individualized treatment and to avoid adverse drug and treatment reactions.
Nurses will increasingly be called upon to use genetic- and genomic-based approaches and technologies in client care. As stated in the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics:
Genomics is a central science for all nursing practice because essentially all diseases and conditions have a genetic or genomic component. Health care for all persons will increasingly include genetic and genomic information along the pathways of prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness (Consensus Panel, 2006, p. 1)
Having a basic knowledge of genetic and genomic terms and concepts is a crucial first step for nurses in building a foundation to provide competent and personalized healthcare. …