Advances in information technology and genomics approaches have opened new avenues of research into the causes of congenital hearing impairment. Nonetheless, many obstacles impede the realization of these new research directions, including the need to identify patient cohorts, develop a rich dataset of clinical characteristics, collect biospecimens, characterize genetic variation in genomic DNA, and navigate the regulatory mechanisms necessary to protect patient privacy. Importantly, much of the information/material necessary to pursue these new research directions has been collected, but remains isolated in disparate - often obsolete - clinical data systems or laboratory freezers. To overcome the obstacles to acquiring clinical research data, we have developed a biomedical computing infrastructure at the Children's Hospital of Philadelphia that collects information from several clinical data sources, and integrates them into a central relational database, which we call the Audiological and Genetic Database (AudGenDB). To further enhance the utility of this database, we have developed an intuitive, powerful web-based user interface that can build complex queries integrating audiological, otological and genetic information
As the use of electronic health records becomes prevalent across the nation, a wealth of clinical data on children with hearing impairment is potentially available for hearing research that will improve the diagnosis and clinical outcomes of these patients. Here, we propose to build a national data network to gather this information, making anonymized data accessible to researchers, while also ensuring patient privacy.
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