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Commentary: Ahead of the Curve |

Grappling With Genomic Incidental Findings in the Clinical RealmDisclosure of Genomic Incidental Findings

Sara Chandros Hull, PhD; Benjamin E. Berkman, JD, MPH
Author and Funding Information

From the Office of the Clinical Director, National Human Genome Research Institute; and Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD.

Correspondence to: Sara Chandros Hull, PhD, Department of Bioethics and NHGRI Bioethics Core, 10 Center Dr, Ste 1C118, National Institutes of Health, Bethesda, MD 20892-1156; e-mail: shull@mail.nih.gov


Funding/Support: This research was funded in part by the intramural research program of the National Human Genome Research Institute, National Institutes of Health.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


Chest. 2014;145(2):226-230. doi:10.1378/chest.13-1976
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We have learned a remarkable amount in recent decades about genomics and its potential contributions to human health and medical practice. However, genomic sequencing technology, which is starting to become incorporated into clinical care, also raises ethical challenges. In particular, there has been significant debate about the appropriate management of genomic incidental findings (GIFs), which we define as pathogenic or likely pathogenic test results that are not apparently relevant to the diagnostic indications for which the tests were ordered. Although there is an emerging consensus that clinicians will have at least some obligation to disclose GIFs to patients, the scope of that obligation is unclear. This commentary identifies nuanced issues that clinicians will likely face in the foreseeable future regarding their emerging obligations to disclose clinically actionable GIFs. Will clinicians be expected to look actively for GIFs? Should GIFs for adult-onset disorders be disclosed to children? What obligations will clinicians have to disclose GIFs to family members of deceased patients? What role should informed consent play? There is value to exploring the range of views on these questions at this time, before genomic sequencing has fully matured as a technology, so that clinicians can anticipate how they will respond to the discovery of GIFs once sequencing becomes a more routine part of clinical care. Genomics is ultimately going to play an important role in the practice of pulmonary medicine, and it is important for pulmonologists and other subspecialists to be well informed about what to expect.


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