JAMA Publishes User’s Guides to Help Physicians Understand Genetic Association Studies
January 21, 2009
A. Background ConceptsThe first article summarizes the key genetic concepts that clinicians must be familiar with to understand genetic association studies. There is a glossary of commonly used terms, a review of the components and structure of DNA, an explanation of human variation and a summary of the different forms that genetic association studies can take.B. Are the Results of the Study Valid?The second article takes the reader through the major issues that need to be addressed in judging whether a genetic association study is valid, presenting a series of questions physicians should ask themselves while reading an association study. Topics addressed include determining whether the participants used in a study were chosen correctly, how to tell if the technology being used to genotype study participants worked correctly, several statistical considerations that need to be addressed (including multiple testing) and whether the results have been replicated and are consistent with those of other studies.C. What are the Results and Will They Help Me in Caring for My Patients?The concluding article of the series offers guidance on evaluating the magnitude and precision of a study’s findings and determining what to do with these results, based on both the study and the patient’s family history and personal characteristics.