AS ILLUSTRATED in this issue of the ARCHIVES, genetic testing is an increasingly informative tool in the diagnosis, prevention, and treatment of disease. The usefulness of this tool, however, hinges on its transparency in the clinical setting. Results of research1- 7 indicate that clinicians will experience predictable difficulties in interpreting probabilities associated with genetic testing, indeed with testing generally. These difficulties can be avoided by following the guidelines herein. With respect to these difficulties, genetic testing can be divided into 2 phases corresponding to the following questions: (1) Who should be tested? and (2) How should the test result be interpreted?
Reyna VF, Lloyd FJ, Whalen P. Genetic Testing and Medical Decision Making. Arch Intern Med. 2001;161(20):2406-2408. doi:10.1001/archinte.161.20.2406