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  1. AU="Jay G Ronquillo"
  2. AU="William King"
  3. AU="Selivanov, A N"
  4. AU="Jae-Seung Yun"
  5. AU=Bartoletti Angelo
  6. AU=Morita Megumi
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Artikel ; Online: Assessing the readiness of precision medicine interoperabilty

Jay G Ronquillo / Chunhua Weng / William T Lester

Journal of Innovation in Health Informatics, Vol 24, Iss

An exploratory study of the National Institutes of Health genetic testing registry

2017  Band 4

Abstract: Background: Precision medicine involves three major innovations currently taking place in healthcare: electronic health records, genomics, and big data. A major challenge for healthcare providers, however, is understanding the readiness for practical ... ...

Abstract Background: Precision medicine involves three major innovations currently taking place in healthcare: electronic health records, genomics, and big data. A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. Objective: To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats. Methods: We performed an exploratory analysis of the National Institutes of Health Genetic Testing Registry. Relevant standards included Health Level Seven International Version 3 Implementation Guide for Family History, the Human Genome Organization Gene Nomenclature Committee (HGNC) database, and Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT). We analyzed the distribution of genetic testing laboratories, genetic test characteristics, and standardized genome/clinical code mappings, stratified by laboratory setting. Results: There were a total of 25472 genetic tests from 240 laboratories testing for approximately 3632 distinct genes. Most tests focused on diagnosis, mutation confirmation, and/or risk assessment of germline mutations that could be passed to offspring. Genes were successfully mapped to all HGNC identifiers, but less than half of tests mapped to SNOMED CT codes, highlighting significant gaps when linking genetic tests to standardized clinical codes that explain the medical motivations behind test ordering. Conclusion: While precision medicine could potentially transform healthcare, successful practical and clinical application will first require the comprehensive and responsible adoption of interoperable standards, terminologies, and formats across all aspects of the precision medicine pipeline.
Schlagwörter informatics ; electronic health records ; genomics ; interoperability ; precision medicine ; Computer applications to medicine. Medical informatics ; R858-859.7
Thema/Rubrik (Code) 170
Sprache Englisch
Erscheinungsdatum 2017-11-01T00:00:00Z
Verlag BCS, The Chartered Institute for IT
Dokumenttyp Artikel ; Online
Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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