Module 1 notes

Professional Practice Domain The registered nurse:

Demonstrates an understanding of the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and moni- toring of treatment effectiveness. • Demonstrates ability to elicit a minimum of three- generation family health history information. • Constructs a pedigree from collected family history informa- tion using standardized symbols and terminology. • Collects personal, health, and developmental histories that consider genetic, environmental, and genomic influences and risks. • Conducts comprehensive health and physical assessments which incorporate knowledge about genetic, environmental, and genomic influences and risk factors. • Critically analyzes the history and physical assessment find- ings for genetic, environmental, and genomic influences and risk factors. • Assesses clients' knowledge, perceptions, and responses to genetic and genomic information. • Develops a plan of care that incorporates genetic and genomic assessment information.

How is pharmacogenomic information being used today?

Doctors are starting to use pharmacogenomic information to prescribe drugs, but such tests are routine for only a few health problems. However, given the field's rapid growth, pharmacogenomics is soon expected to lead to better ways of using drugs to manage heart disease, cancer, asthma, depression and many other common diseases. One current use of pharmacogenomics involves people infected with the human immunodeficiency virus (HIV). Before prescribing the antiviral drug abacavir (Ziagen), doctors now routinely test HIV-infected patients for a genetic variant that makes them more likely to have a bad reaction to the drug. Another example is the breast cancer drug trastuzumab (Herceptin). This therapy works only for women whose tumors have a particular genetic profile that leads to overproduction of a protein called HER2. The U.S. Food and Drug Administration (FDA) also recommends genetic testing before giving the chemotherapy drug mercaptopurine (Purinethol) to patients with acute lymphoblastic leukemia. Some people have a genetic variant that interferes with their ability to process the drug. This processing problem can cause severe side effects and increase risk of infection, unless the standard dose is adjusted according to the patient's genetic makeup. The FDA also advises doctors to test colon cancer patients for certain genetic variants before administering irinotecan (Camptosar), which is part of a combination chemotherapy regimen. The reasoning is that patients with one particular variant may not be able to clear the drug from their bodies as quickly as others, resulting in severe diarrhea and increased infection risk. Such patients may need to receive lower doses of the drug.

How can knowing about genetics help treat disease?

Every year, more than two million Americans have serious side effects from prescription medicines and as many as one hundred thousand die. A "one-size-fits-all" approach to medicine might lead to some of these side effects, since all people are different. Genetic research is helping us figure out how individual people will respond to medicines. This type of research is called "pharmacogenetics" and "pharmagenomics."

What is genetics?

Genetics is the study of inheritance, or the way traits are passed down from one generation to another. Genes carry the instructions for making proteins, which in turn direct the activities of cells and functions of the body that influence traits such as hair and eye color.

What is genomics?

Genomics is a newer term that describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person's environment.

What does genomics have to do with my health?

Genomics plays a part in nine of the Ten Leading Causes of Death in the United States. All human beings are 99.9 percent identical in genetic makeup, but differences in the remaining 0.1 percent may hold important clues about the causes of disease. We hope that the study of genomics will help us learn why some people get sick from certain infections, environmental factors, and behaviors, while others do not. Better understanding of the interactions between genes and the environment will help us find better ways to improve health and prevent diseases.

Number of deaths for leading causes of death:

Heart disease: 596,577 Cancer: 576,691 Chronic lower respiratory diseases: 142,943 Stroke (cerebrovascular diseases): 128,932 Accidents (unintentional injuries): 126,438 Alzheimer's disease: 84,974 Diabetes: 73,831 Influenza and Pneumonia: 53,826 Nephritis, nephrotic syndrome, and nephrosis: 45,591 Intentional self-harm (suicide): 39,518

What is pharmacogenomics?

Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses that are likely to work best for that particular person. This new field combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.

Human Genome Project

The Human Genome Project was an international project that mapped and sequenced the entire human genome. Completed in April 2003, data from the project are freely available to researchers and others interested in genetics and human health.

Genome

The genome is the entire set of genetic instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the cells' mitochondria. Each set of 23 chromosomes contains approximately 3.1 billion bases of DNA sequence.

What might pharmacogenomics mean for you?

Until recently, drugs have been developed with the idea that each drug works pretty much the same in everybody. But genomic research has changed that "one size fits all" approach and opened the door to more personalized approaches to using and developing drugs. Depending on your genetic makeup, some drugs may work more or less effectively for you than they do in other people. Likewise, some drugs may produce more or fewer side effects in you than in someone else. In the near future, doctors will be able to routinely use information about your genetic makeup to choose those drugs and drug doses that offer the greatest chance of helping you. Pharmacogenomics may also help to save you time and money. By using information about your genetic makeup, doctors soon may be able to avoid the trial-and-error approach of giving you various drugs that are not likely to work for you until they find the right one. Using pharmacogenomics, the "best-fit" drug to help you can be chosen from the beginning.

Professional Responsibilities All registered nurses are expected to engage in professional role activ- ities that are consistent with Nursing: Scope and Standards of Practice (2004) by the American Nurses Association.15 In addition, competent nursing practice now requires the incorporation of genetic and genomic knowledge and skills in order to:

• Recognize when one's own attitudes and values related to genetic and genomic science may affect care provided to clients. • Advocate for clients' access to desired genetic/genomic serv- ices and/or resources including support groups. • Examine competency of practice on a regular basis, identify- ing areas of strength, as well as areas in which professional development related to genetics and genomics would be beneficial. • Incorporate genetic and genomic technologies and informa- tion into registered nurse practice. • Demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and pre- ferred language. • Advocate for the rights of all clients for autonomous, informed genetic- and genomic-related decision-making and voluntary action.