Genetics of Disorders Of Sex Development: The DSD-TRN Experience

Overview

Journal Endocrinol Metab Clin North Am

Publisher Elsevier

Specialty Endocrinology

Date 2017 May 7

PMID 28476235

Citations 27

Authors

Emmanuele C Delot

Jeanette C Papp

David E Sandberg

Eric Vilain

Affiliations

Soon will be listed here.

Abstract

Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.

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