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This article is part of the supplement: Beyond the Genome 2012

Open Access Oral presentation

How to avoid one thousand opportunities to do harm in genomic medicine

Isaac Kohane

  • Correspondence: Isaac Kohane

Author Affiliations

Children's Hospital Boston, MA, USA

BMC Proceedings 2012, 6(Suppl 6):O13  doi:10.1186/1753-6561-6-S6-O13


The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1753-6561/6/S6/O13


Published:1 October 2012

© 2012 Kohane; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Oral presentation

With the advent of whole genome sequencing made clinically available, the number of incidental findings is likely to rise. False positive incidental findings are of particular clinical concern, and they can usefully be classified into four categories. In order of increasing challenge, there is first, the substantial proportion of 'textbook cases' of mutations documented to cause human disease in a highly penetrant Mendelian fashion, which are incorrectly annotated in the databases. The second is the technical/measurement error rate in genome-scale sequencing. Third is the incorrect assignment of prior probabilities for much of our genetic and genomic knowledge. The fourth derives from testing multiple hypotheses across millions of variants. I will describe the nature of these components, provide rough estimates for the magnitude of the problem and point out existing approaches that will serve to control the growth of these aspects of the incidentalome.