Practical challenges in integrating genomic data into the electronic health record
Open accessAbstract
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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- 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.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2013-10
- Volume
- 15
- Issue
- 10
- Pages
- 772-778
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC4201621
- 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
- bronze
- doi.org
- Licence
- 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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