To address the lack of available evidence and the controversies in DSD management, in 2011, the lab founded the first (and only) North American network with four sites and a group of patient advocates, Accord Alliance. The alliance has now expanded to 12 sites, including Children’s National Hospital, and created a unique infrastructure comprising of a registry and a biobank (both of which are now hosted at Children’s National). The team organizes network-wide clinical case conferences to discuss challenging cases. The team created an entire set of clinical forms tailored for DSD patients, in all specialties concerned in this interdisciplinary model of care (endocrine, genetics, psychosocial, urology, gynecology, etc.). The registry longitudinally collects the standardized deep phenotyping (including psychosocial), genotyping, as well as parameters of clinical care, allowing for outcomes research. The scientests recently published the principles governing the network and the first analysis of genetic registry data (Délot et al. 2017), as well as a detailed survey of the state of DSD clinical practice across the U.S. (Rolston et al. 2017).
The goals of the DSD-TRN are to:
- Determine links between intervention and health outcomes
- Establish best practice guidelines based on this evidence
- Educate both providers and patients to these new standards of care
- Pilot integration of those standardized clinical forms into Electronic Medical Records to streamline the clinical workflow and generalize the best practices the team benchmarks in this disease-specific precision medicine effort.
Members of this research program include:
- Emmanuèle Délot, Ph.D.
- Eric Vilain, M.D., Ph.D.