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 Steinmann

Affiliation: University of Buenos Aires

Keywords: Recall, Annual Physical Examination, genome analysis.

Categories: Medicine

DOI: 10.17160/josha.5.6.457

Languages: English

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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