Genomic medicine is poised to offer a broad array of new genome-scale screening tests. However, these tests may lead to a phenomenon in which multiple abnormal genomic findings are discovered, analogous to the “incidentalomas” that are often discovered in radiological studies. If practitioners pursue these unexpected genomic findings without thought, there may be disastrous consequences. First, physicians will be overwhelmed by the complexity of pursuing unexpected genomic measurements. Second, patients will be subjected to unnecessary follow-up tests, causing additional morbidity. Third, the cost of genomic medicine will increase substantially with little benefit to patients or physicians (but with great financial benefits to the genomic testing industry), thus throwing the overall societal benefit of genome-based medicine into question. In this article, we discuss the basis for these concerns and suggest several steps that can be taken to help avoid these substantive risks to the practice of genomically personalized medicine.
As the number of tests increases to 10 000, the fraction of the population that has a false-positive test result increases to more than 60%. Any large-scale genomic panel is therefore likely to routinely report false-positive results. The data for this figure were generated by running a simulation in which a population of 100 000 was tested with 1 through 10 000 tests, each with a sensitivity of 100% and a false-positive rate of 0.01%. That is, 10 individuals with false-positive tests were randomly selected from the population for each test. Because some individuals could be selected more than once with a larger panel of tests, the increase in the number of individuals with false-positive test results is less than linear.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 154
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Users' Guides to the Medical Literature
All results at
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.