Genetics of Disorders of Sex Development

Publication date: Available online 28 March 2017
Source:Endocrinology and Metabolism Clinics of North America
Author(s): Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Eric Vilain

Teaser

Although many next-generation sequencing platforms are being 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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