TY - JOUR
T1 - Genetics of Disorders of Sex Development
T2 - The DSD-TRN Experience
AU - DSD-TRN Genetics Workgroup
AU - DSD-TRN Genetics Workgroup
AU - Délot, Emmanuèle C.
AU - Papp, Jeanette C.
AU - Délot, Emmanuèle C.
AU - Fox, Michelle
AU - Grody, Wayne
AU - Lee, Hane
AU - Papp, Jeanette C.
AU - Vilain, Eric
AU - Keegan, Catherine
AU - Ramsdell, Linda
AU - Green, Janet
AU - Barseghyan, Hayk
AU - Dorrani, Naghmeh
AU - Mohnach, Lauren
AU - Pearson, Margaret A.
AU - Diaz, Jullianne
AU - Leon, Eyby
AU - Hopkin, Robert J.
AU - Johnson, Jodie
AU - Saal, Howard
AU - Amarillo, Ina
AU - Adam, Margaret
AU - Sandberg, David E.
AU - Vilain, Eric
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2017/6
Y1 - 2017/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85016609789&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85016609789&partnerID=8YFLogxK
U2 - 10.1016/j.ecl.2017.01.015
DO - 10.1016/j.ecl.2017.01.015
M3 - Review article
C2 - 28476235
AN - SCOPUS:85016609789
SN - 0889-8529
VL - 46
SP - 519
EP - 537
JO - Endocrinology and Metabolism Clinics of North America
JF - Endocrinology and Metabolism Clinics of North America
IS - 2
ER -