Cited by 108Electronic Health Records SystemsGenomics and Rare DiseasesArtificial Intelligence in Healthcare and Education

Practical challenges in integrating genomic data into the electronic health record

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Kho, Abel N., Rasmussen, Luke V., Connolly, John J., Peissig, Peggy L., Starren, Justin, Hakonarson, Hakon, Hayes, M. Geoffrey·2013·Genetics in Medicine

Abstract

Genetic testing has had limited impact on routine clinical care. Widespread adoption of electronic health records presents a promising means of disseminating genetic testing into diverse care settings. Practical challenges to integration of genomic data into electronic health records include size and complexity of genetic test results, inadequate use of standards for clinical and genetic data, and limitations in electronic health record capacity to store and analyze genetic data. Related challenges include uncertainty in the interpretation of regulatory requirements for return of results, and privacy concerns specific to genetic testing. Successful integration of genomic data may require significant redesign of existing electronic health record systems.

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  1. [43]American Medical Association CPT - Current Procedural Terminology 2013 http://www.ama-assn.org/ama/pub/physician-resources/solutionsmanaging-your-practice/coding-billing-insurance/cpt.page. Accessed 22 April 2013

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Authors
Kho, A. N., Rasmussen, L. V., Connolly, J. J., Peissig, P. L., Starren, J., Hakonarson, H., & Hayes, M. G.
Affiliations
  • Northwestern University (US)
  • Children's Hospital of Philadelphia (US)
  • Marshfield Clinic Research Foundation (US)
Corresponding author
Kho, Abel N.
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2013-10
Volume
15
Issue
10
Pages
772-778
ISSN
1098-3600 (ISSN-L)
OpenAlex
W1975075489
Cited by
108
References
40
Citations by year
2026: 6 · 2025: 7 · 2024: 6 · 2023: 8 · 2022: 6 · 2021: 11 · 2020: 4 · 2019: 7 · 2018: 9 · 2017: 8 · 2016: 10 · 2015: 16 · 2014: 7 · 2013: 2
FWCI
1.96
Type
journal article
Language
en
Open access
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (UL1TR000150)
  • National Human Genome Research Institute (U01HG006830, U01HG006828, U01HG006388, U01HG006389)
  • National Center for Advancing Translational Sciences
Topics
  • Health Sciences › Health Professions › Health Information Management › Electronic Health Records Systems
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
Keywords
genomic data integration, electronic health records, genetic testing, clinical data standards, genetic data storage, genetic data analysis, genetic privacy, health information technology, clinical implementation of genetic testing
MeSH terms
Genetic Testing, Genetics, Medical, Humans, Information Storage and Retrieval, Genomics, Genetic Privacy, Electronic Health Records

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