@inproceedings{fde4ef55c52443229df8e59f991f46c4,
title = "Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource",
abstract = "The National Institute of Health (NIH) Genetic Testing Registry (GTR) provides a variety of information about genetic tests such as relevant methods, conditions, and performing laboratories. This study mapped a subset of GTR data to the newly developed HL7{\textregistered}-FHIR{\textregistered} Genomic Study resource. Using open-source tools, a web application was developed to implement data mapping and provides many GTR test records as Genomic Study resources. The developed system demonstrates the feasibility of using open-source tools and the FHIR Genomic Study resource to represent publicly available genetic testing information. This study validates the overall design of the Genomic Study resource and proposes two enhancements to support additional data elements.",
keywords = "FHIR, Genetic Testing, Genomic Study, Standards",
author = "Aly Khalifa and Freimuth, {Robert R.}",
note = "Publisher Copyright: {\textcopyright} 2023 The authors and IOS Press.; 21st International Conference on Informatics, Management, and Technology in Healthcare, ICIMTH 2023 ; Conference date: 01-07-2023 Through 03-07-2023",
year = "2023",
month = jun,
day = "29",
doi = "10.3233/SHTI230515",
language = "English (US)",
series = "Studies in Health Technology and Informatics",
publisher = "IOS Press BV",
pages = "398--401",
editor = "John Mantas and Parisis Gallos and Emmanouil Zoulias and Arie Hasman and Househ, {Mowafa S.} and Martha Charalampidou and Andriana Magdalinou",
booktitle = "Healthcare Transformation with Informatics and Artificial Intelligence",
address = "Netherlands",
}