Incidental Findings from Genome Sequencing � Nuances and Caveats
You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up � a so-called �incidental finding.�
Surprises, of course, aren�t new in medicine. The term �incidental finding� comes from �incidentaloma,� coined in 1995 to describe an adrenal tumor found on a scan looking for something else. I had one -- a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer�s imaging trial, and her scan revealed two brain aneurysms!
Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing.
Surprises, of course, aren�t new in medicine. The term �incidental finding� comes from �incidentaloma,� coined in 1995 to describe an adrenal tumor found on a scan looking for something else. I had one -- a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer�s imaging trial, and her scan revealed two brain aneurysms!
Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing.
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