The onslaught of genetic innovations in the past decade has resulted in the ongoing identification of a spectrum of genes, some of which, when mutated, result in cancer susceptibility. The impact of these discoveries on healthcare provides an opportunity to enhance health promotion and long-term health outcomes by identifying at-risk individuals before cancer develops. This provides the healthcare provider with the potential to intervene much earlier to either reduce the risk or diagnose a cancer early when the chances for effective treatment are greatest. Even though genetic testing is increasingly being employed clinically, there remains a gap between the technology and effective interventions. Genetic tests also provide information that is distinct from other tests used routinely in health promotion, because of the personal and family nature of the information. This results in unique clinical, ethical, legal, and social issues that further affect the effective diffusion of this technology clinically. This article provides an overview of the distinguishing characteristics of genetic testing, outlines the essential components of informed consent, and discusses the potential implications of testing on individuals’ lives and the nurse’s role in offering genetic testing.
From the University of Pennsylvania Cancer Center, Philadelphia, Pa, and the National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.
Address correspondence and reprint requests to Kathleen A. Calzone, MSN, RN, APNG, University of Pennsylvania Cancer Center, 3400 Spruce St, 2007 Penn Tower, Philadelphia, PA 19104.
Accepted for publication October 16, 2001.