Lay Representations of Genetic Disease,and Predictive Testing

Abstract

As research in human genetics advances, genes for familial forms of cancer and heart disease will continue to be identified. The implication of such findings is that at-risk individuals will be offered a predictive genetic test. How do individuals make such decisions and what information do they need to make informed choices? Richards (1993) has argued that the first step in understanding and helping people to make these decisions is to investigate lay beliefs of genetics. This study examined illness representations of genetic disease, and predictive testing in a sample of 20 educated lay people. Through content analysis of open-ended interviews, we discovered that individuals have limited knowledge of late-onset genetic disorders and predictive testing. Most of the sample identified genetic diseases that manifest in childhood, and were more familiar with prenatal testing. They did not mention any treatment options for genetic disorders, which may indicate that lay people are more deterministic about diseases with a genetic component. Finally, they consistently raised concerns about the ethics of genetic testing and research. The implications of our findings for the provision of information in a genetic testing situation are discussed.