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Commentary | Clinician's Corner

The Incidentalome:  A Threat to Genomic Medicine

Isaac S. Kohane, MD, PhD; Daniel R. Masys, MD; Russ B. Altman, MD, PhD
JAMA. 2006;296(2):212-215. doi:10.1001/jama.296.2.212.
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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.

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Figure. Percentage of Total Population With a False-Positive Test Result
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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.

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