Genetic and genomic research is creating new and more individualized approaches to better manage a person's disease or predisposition to disease, including cancer. This approach to healthcare is called personalized healthcare. These discoveries have important implications for oncology nursing practice throughout the cancer care continuum. This continuum encompasses primary prevention, screening, diagnosis, treatment, survivorship, recurrence, and progression through the end of life. In recognition of the expanding role of genetics and genomics in nursing practice, the Essentials of Genetic and Genomic Nursing was first published in 2006 by an independent consensus panel of nursing professionals. It is now in its second edition. Using the Essentials of Genetic and Genomic Nursing as a basis, this article provides an overview of where and how oncology nurses will be or already are integrating genetics, genomics, and personalized healthcare into their daily practice.
Genetic/Genomic Research and Understanding Cancer
In 2003, an international research effort to sequence the entire genome of human beings, called the Human Genome Project (HGP), was completed. The completion of the HGP has opened doors for scientists to understand more about the role of genes in health and disease. Genes, units of hereditary information located at specific positions in a chromosome, code for proteins that contribute to particular characteristics or functions. For example, genes play a role in 9 of the 10 leading causes of death in the United States, including cancer.
Genetics investigations have traditionally involved assessment of how single genes influence relatively rare, single-gene disorders. Studies of the human genome are leading to greater knowledge of the ways in which genes interact with each other and with the environment, helping to improve health and prevent disease. This new focus of research, genomics, involves all genes in the human genome and their interactions with each other, the environment, and cultural and psychosocial factors. Table 1 provides more information and resources on genetics and genomics, and their roles in health and disease.
One approach to learning about the genetics of common, complex disorders is known as a genome-wide association study (GWAS). A GWAS uses rapidly scanning markers across the genomes of many people to identify genetic variations that are associated with a specific disease. The GWAS allows scientists to find the common genetic changes that contribute to small increases in disease risk. When the genetic associations are located, researchers can use the information to develop better ways to prevent, diagnose, and treat disease. GWAS approaches have been very helpful in finding genetic variations that contribute to common, complex diseases such as diabetes, heart disease, mental illness, and cancer.