Anyone who has browsed the human genome sequence can readily appreciate its immense power and potential as well as its staggering complexity, and imperfection. Nevertheless, following its release, British Prime Minister Tony Blair declared, "Today we are witnessing a revolution in medical science whose impact can far surpass the discovery of antibiotics."1 And just 5 days prior, fears about the creation of a "genetic ghetto" swirled around London when one of Britain's largest private life insurers revealed that it had illegally used data from experimental genetic tests to evalute some insurance applications.2 Could genetic research rival the clinical utility of antibiotics or spawn a genetic underclass? We do not yet know. Only gradually, through painstaking research, will the true social and medical impact of genetic science be clarified.
This issue of MSJAMA explores how researchers, policy makers, and clinicians are defining a role for genetics in preventive medicine. One essential component will be determining the disease risk conferred by particular genotypes. Complicating this process is the fact that many diseases may have multiple genetic etiologies or may arise from complex interactions between several genetic variants and environmental factors. Karen Steinberg, Marta Gwinn, and Muin Khoury discuss the role of the Centers for Disease Control in dissecting the genetic etiologies of common diseases. Wendy Rubinstein and Reynold Lopez-Soler explore the heterogeneous genetic causes of sudden cardiac death. However, even the most comprehensive genetic databases cannot be useful without the means to integrate that information into clinical practice. Sue Goldie and April Levine discuss analytic methods used to evaluate the clinical utility and cost effectiveness of genetic testing. John Phillips presents important clinical tools that can facilitate the application of genetic information to patient care.
In examining the human genome project Freeman Dyson noted, "Technology only gives us tools. Human desires and institutions decide how we use them."3 The use of poorly studied genetic tests to inflate insurance premiums, or fears that genetic research will result in genetic discrimination, constitute harmful reactions to incomplete data. Moreover, given the potential social and economic importance of genetic research, premature reactions to it will not be easily averted in the near future. In realizing the benefits of genetic testing in disease prevention, physicians and policy makers must establish mechanisms to evaluate and respond to the implications of new genetic information as soon as it becomes available. They can thereby protect the public, not only from disease, but also from alarmists and profiteers.
Weisberg SP. Genetics and Preventive Medicine: A Time for Inquiry. JAMA. 2001;286(13):1634. doi:10.1001/jama.286.13.1634-JMS1003-2-1