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

DSD-TRN Genetics Workgroup, DSD-TRN Genetics Workgroup

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations

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.

Original languageEnglish
Pages (from-to)519-537
Number of pages19
JournalEndocrinology and Metabolism Clinics of North America
Volume46
Issue number2
DOIs
StatePublished - Jun 2017

Keywords

  • Disorders of sex development
  • Genomic sequencing
  • Genotype
  • Phenotype

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