Introduction: The Challenge of Incidental Findings

At first, the problem of incidental findings may seem, well, incidental — “unpredictable,” “minor.”1 So much attention has been devoted for so long to the challenge of structuring human subjects research, that turning now to the question of how to handle information that is generated unexpectedly in the course of conducting research but may be important to the research participant’s health or reproductive decisions may seem very much a side issue. If the brain scan of a healthy adolescent participating in a functional magnetic resonance imaging (fMRI) study of cognition looks abnormal — with a big bright area suggesting a tumor — or the scan of an asymptomatic volunteer in a computed tomography (CT) colonography study shows a 5 mm nodule at the base of the lung, surely someone knows how to handle this. If a family pedigree study aiming to unravel the genetics of an inherited disorder unexpectedly reveals misattributed paternity, there must be some standard approach to handling this potentially explosive information. And as genomics researchers analyze, archive, and reanalyze large stretches of the human genome — indeed, the whole genome in genome-wide association studies (GWAS) — we know that they will stumble upon all sorts of information of potential health and reproductive importance. Surely, someone knows how to handle that.