So you find out you have a mutation that puts you at risk for cancer. What does that mean? What should you do? The availability of genetic testing for disease calls for new decision making models and counseling approaches that go beyond the traditional frameworks used for reproductive decisions. This paper reviews existing models and proposes a new framework to guide decision making in the new world of genetic testing for disease.

Wang, C., Gonzalez, R., & Merajver, S. (2004). Assessment of genetic testing and related counseling services: Current research and future direction. Social Science and Medicine, 58, 1427-42. doi:10.1016/S0277-9536(03)00337-X (PDF)

Abstract

With the recent completion of the sequencing of the Human Genome, genetic testing will increasingly become available for a greater number of medical conditions, many of which are those that manifest in adulthood (e.g., various cancers, cardiovascular disease, diabetes) or for which little or no treatments are available (e.g., Alzheimer disease). Genetic services, defined here as those relating to genetic testing and counseling, will be with helping more individuals deal with medical information that affects their health directly, as opposed to affecting primarily the health of their offspring. This paper reviews the existing research in the genetic testing and counseling literature and presents an evaluation framework outlining the intended outcomes of genetic services. The purpose of this framework is to provide an overview of the potential outcomes of these services and highlight constructs for future research in this area. In addition, other issues that will affect the assessment of genetic services are raised, using examples from the existing literature. Ultimately, the goal of this paper is to highlight and suggest directions researchers can take to produce the information needed to guide genetic testing and counseling practice. Moreover, as genetic knowledge is increasingly applied towards the prevention and treatment of various common, chronic disease conditions, genetic information will have implications for providers outside of the traditional medical genetics realm, such as primary care providers and public health practitioners. A better understanding of the outcomes of genetic testing and counseling will provide a basis from which to ensure an appropriate application of genetic information by all those who eventually provide care and ‘‘genetic’’ services.