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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer Berlin Heidelberg

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DOI

10.1016/j.bbamcr.2008.01.020

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ISSN

1432-1203

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Regulating whole exome sequencing as a diagnostic

Authors: Valentina Lapin Lindsey C Mighion Cristina P da Silva Ymkje Cuperus Lora J H Bean Madhuri R Hegde
Publish Date: 2016/05/11
Volume: 135, Issue: 6, Pages: 655-673
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Abstract

In the last decade there has been a flood of new technology in the sequencing arena The onset of nextgeneration sequencing NGS technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician Whole exome sequencing WES has become available as a diagnostic test performed in certified clinical laboratories This has led to increased presence in the diagnostic marketplace increased consumer awareness and the question has been raised by various stakeholders to whether there is sufficient stringent regulation of WES and other NGSbased tests We discuss the various WES services currently available in the marketplace current regulation of WES as a laboratory developed test the proposed FDA involvement in its oversight as well as the response of various laboratory groups that provide these diagnostic services Overall a rigorous process oversight and assessment of interlab reproducibility is strongly warranted for WES as it is used as a diagnostic test but regulation should be mindful of the excessive administrative burden on academic and smaller diagnostic laboratories

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