Wednesday, April 8, 2015

On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

 2015 Mar;43(1):134-42. doi: 10.1111/jlme.12201.

On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.

Author information

  • 1Ursula Von der Ruhr Professor of Bioethics at the Medical College of Wisconsin, and Affiliated Faculty at the Institute for Health and Aging, University of California San Francisco.

Abstract

This paper examines three possible justifications for original ACMG recommendations to return incidental findings from whole exome or genome sequencing independent of patient preferences. The first two potential justifications, based on a patient's authentic values, then on harms to others, are founding lacking as a basis of justification for these recommendations. The third, grounded in analogous professional practices, might serve as a potential justification if several controversies can be avoided. However, given the nature of these controversies and the need to instill public trust in this newly emerging science, the paper finds that updated ACMG recommendations that recognize opt-out rights on behalf of patients is the most prudent, and justifiable, approach.

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