In 1989 Francis Collins, one of the authors of this article, helped discover the gene responsible for cystic fibrosis. He, along with other researchers, found that this mutated gene expels a protein that causes the disease-a discovery that has guided researchers searching for a treatment and a cure. It's an example of how genomics is revolutionizing clinical practice.
You may wonder how genomics will affect nursing. The answer is that it has implications for all nursing specialties. In fact, it's patient care that should motivate all nurses to become genetically literate. Nurses uninformed about genomics will severely limit its use in improving health and health care.
At a 2002 ANA convention, more than half the nurse attendees said they weren't competent enough to provide care that involved genetics, but they did agree that genetic science will affect nursing practice. Additionally, almost 70% polled thought that nursing school curricula should reflect the trend in genomics-based health care. Such initiatives must start now to optimize the benefits of genomic knowledge and minimize misuses such as genetic discrimination.
The National Human Genome Research Institute (NHGRI) has developed a plan that highlights challenges and opportunities for scientists and clinicians, scheduled to be released online this month at http://genome.gov. Nurses can refer to this plan in deciding how to develop personal skills, obtain professional education, and determine research directions.
Soon, technology will enable analysis of a person's total genome in a few hours at an affordable cost. This genetic information will be used in identifying susceptibilities to a wide range of diseases and specially tailored interventions. For example, imatinib mesylate (Gleevec) is a drug used to treat chronic myelogenous leukemia (CML). The identification of a consistent chromosomal abnormality in patients with CML led to the development of this cancer treatment. And research into pharmacogenomics-the science of personalizing drug interventions based on genetic makeup, allowing for reduced side effects and increased effectiveness-is ongoing. Tailoring screening recommendations and individualizing treatment based on genetic information will soon be commonplace.
Nurses at the bedside often hear of patients' family histories of cancer, heart disease, or mental illness. Patients regularly ask about genetic tests out of a desire to determine whether they have a genetic predisposition to illness. Genomics has the potential to provide improved predictive and diagnostic options, and nurses will be part of an interdisciplinary team explaining such tests.
These tests, based on a detailed understanding of the human genome, promise to provide a rational and powerful foundation for the healing arts. Resulting from greater understanding of the mechanisms of disease will be new opportunities not only for gene therapies, but also prevention, early detection, targeted intervention, and cure. Since there are no perfect human specimens-all of us carry DNA flaws-there is potential to improve the health of all.
But do we have the right biomedical and bioethical structures and resources to provide such care? Genomics requires a new way of thinking about our bodies, our health, and the way we do business. Nurses, along with other professionals, can be instrumental in designing effective, efficient, and fair systems that integrate genetics into all services provided.
This month, the NHGRI celebrates Human Genome Month, honoring both the 50th anniversary of the discovery of the double helix and the culmination of the sequencing of the human genome. Take this opportunity to assume more responsibility for transferring what's known about the genome into health benefits.
FIGUREFIGURE