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JOSHA`s Critical Review of: “Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers”: IS THERE A NEED FOR “RECALL” IN CLINICAL MEDICINE?
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JOSHA`s Critical Review of: “Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers”: IS THERE A NEED FOR “RECALL” IN CLINICAL MEDICINE?

Felicitas Holzer, Roland Mertelsmann, Ignacio Mastroleo, Gerhard G. Steinmann University of Buenos Aires, Albert-Ludwigs Universität, National Scientific and Technical Research Council (CONICET), BioThera Research Institute for the Philosophy of Translational Medicine, FLACSO collaborating centre of PAHO/WHO, Journal of Science, Humanities and Arts

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Abstract

In this study, the importance of new information generated after the initial diagnostic genome analysis was performed is strikingly demonstrated by the fact that new information was of relevance in 10% of the patients in this analysis. While this study focusses on clinical exome analysis, the implications go far beyond this study and potentially apply to all diagnostic and therapeutic procedures performed.

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Article Information

Title

JOSHA`s Critical Review of: “Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers”: IS THERE A NEED FOR “RECALL” IN CLINICAL MEDICINE?

Type

Article

Published in
Journal 18. August 2018
Language
English
Journal
Vol 5 Issue 6
Categories

Medicine

Affiliations
1 University of Buenos Aires 2 Albert-Ludwigs Universität 3 National Scientific and Technical Research Council (CONICET), BioThera Research Institute for the Philosophy of Translational Medicine, FLACSO collaborating centre of PAHO/WHO 4 Journal of Science, Humanities and Arts

This article is open access and distributed under the terms of the Creative Commons Attribution 4.0 International License.

Cite this work

Felicitas Holzer et al. (2018). "JOSHA`s Critical Review of: “Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers”: IS THERE A NEED FOR “RECALL” IN CLINICAL MEDICINE?". JOSHA Journal. DOI: 10.17160/josha.5.6.457.