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Endocrinol Metab Clin North Am. 2017 Jun;46(2):519-537. doi: 10.1016/j.ecl.2017.01.015. Epub 2017 Mar 28.

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

Author information

1
Departments of Human Genetics and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 5301A, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA. Electronic address: edelot@ucla.edu.
2
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Room 5506, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.
3
Division of Pediatric Psychology, Department of Pediatrics & Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA.
4
Departments of Human Genetics, Urology, and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 4554B, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.

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.

KEYWORDS:

Disorders of sex development; Genomic sequencing; Genotype; Phenotype

PMID:
28476235
PMCID:
PMC5714504
DOI:
10.1016/j.ecl.2017.01.015
[Indexed for MEDLINE]
Free PMC Article

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