ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed.
- Model Context Protocol: The unexpected catalyst of a bioinformatics interoperability revolution.PLoS computational biology · 2026Article
- Generating synthetic electronic health record data: a methodological scoping review with benchmarking on phenotype data and open-source software.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Fast Healthcare Interoperability Resources (FHIR)-Based Quality Information Exchange for Clinical Next-Generation Sequencing Genomic Testing: Implementation Study.Journal of medical Internet research · 2021Article
- Pharmacogenomics Implementation and Hurdles to Overcome; In the Context of a Developing Country.Iranian journal of pharmaceutical research : IJPR · 2021Article
- Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study.Journal of medical Internet research · 2020Article
- Healthcare Associated Infections: An Interoperable Infrastructure for Multidrug Resistant Organism Surveillance.International journal of environmental research and public health · 2020Article
- FHIR Genomics: enabling standardization for precision medicine use cases.NPJ genomic medicine · 2020Article
- Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Interactive or static reports to guide clinical interpretation of cancer genomics.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- The PiGeOn project: protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer.BMC cancer · 2018Article
- Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018Article
- Physicians' pharmacogenomics information needs and seeking behavior: a study with case vignettes.BMC medical informatics and decision making · 2017Article
- PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories.Genome medicine · 2017Article
- Big Data Analytics for Genomic Medicine.International journal of molecular sciences · 2017Review
- Integrating cancer genomic data into electronic health records.Genome medicine · 2016Review
- Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.Applied clinical informatics · 2016Article
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.American journal of human genetics · 2016Article
- Electronic Health Records: Then, Now, and in the Future.Yearbook of medical informatics · 2016Review
- The genomic CDS sandbox: An assessment among domain experts.Journal of biomedical informatics · 2016Article
- Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine.Journal of healthcare engineering · 2016Review
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
purposeGenome-scale clinical sequencing is being adopted more broadly in medical practice. The National Institutes of Health developed the Clinical Sequencing Exploratory Research (CSER) program to guide implementation and dissemination of best practices for the integration of sequencing into clinical care. This study describes and compares the state of the art of incorporating whole-exome and whole-genome sequencing results into the electronic health record, including approaches to decision support across the six current CSER sites.
methodsThe CSER Medical Record Working Group collaboratively developed and completed an in-depth survey to assess the communication of genome-scale data into the electronic health record. We summarized commonalities and divergent approaches.
resultsDespite common sequencing platform (Illumina) adoptions, there is a great diversity of approaches to annotation tools and workflow, as well as to report generation. At all sites, reports are human-readable structured documents available as passive decision support in the electronic health record. Active decision support is in early implementation at two sites.
conclusionThe parallel efforts across CSER sites in the creation of systems for report generation and integration of reports into the electronic health record, as well as the lack of standardized approaches to interfacing with variant databases to create active clinical decision support, create opportunities for cross-site and vendor collaborations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.