Unexpected Findings Anything but “Incidental”

June 26, 2014
Unexpected Findings Anything but “Incidental”
Incidental findings occur in clinical, research, and direct-to-consumer contexts. [Photocanal25/iStock Photos]

Alex Philippidis

Recent developments reveal both the beginnings of consensus, and many more unresolved issues, when it comes to “incidental” or unexpected findings uncovered during genome or exome sequencing.

The American College of Medical Genetics and Genomics (ACMG) retreated in April from its controversial recommendation last year that labs should return incidental findings to the doctor ordering the sequencing for discussion with patients regardless of their preference. The suggestion applies to ACMG’s minimum list of 57 genes it recommends be sequenced for mutations involving any of 24 disorders “where early intervention is likely to reduce or prevent serious morbidity or early mortality.”

ACMG argued last year that genes should be sequenced no matter a patient’s age or indication that triggered the sequencing, while patients who refused consent should not be sequenced. After criticism from numerous physicians, other clinicians, and patient advocates, ACMG now recommends that patients should have the choice of opting out of analysis of their medically actionable genes following whole exome or genome sequencing.

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