A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.

TitleA survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
Publication TypeJournal Article
Year of Publication2013
AuthorsTarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y
JournalGenet Med
Volume15
Issue10
Pagination824-32
Date Published2013 Oct
ISSN1530-0366
KeywordsDecision Support Systems, Clinical, Electronic Health Records, Exome, Genome, Human, Health Surveys, High-Throughput Nucleotide Sequencing, Humans, Medical Informatics, National Institutes of Health (U.S.), Sequence Analysis, United States, Workflow
Abstract

PURPOSE: Genome-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.

METHODS: The 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.

RESULTS: Despite 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.

CONCLUSION: The 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.

DOI10.1038/gim.2013.120
Alternate JournalGenet. Med.
PubMed ID24071794
PubMed Central IDPMC3951437
Grant ListKG100355 / / PHS HHS / United States
RC1LM010526 / LM / NLM NIH HHS / United States
U01 HG006375 / HG / NHGRI NIH HHS / United States
U01 HG006485 / HG / NHGRI NIH HHS / United States
U01 HG006487 / HG / NHGRI NIH HHS / United States
U01 HG006492 / HG / NHGRI NIH HHS / United States
U01 HG006500 / HG / NHGRI NIH HHS / United States
U01 HG006507 / HG / NHGRI NIH HHS / United States
U01 HG006546 / HG / NHGRI NIH HHS / United States
U01 HG007307 / HG / NHGRI NIH HHS / United States
U01HG00637 / HG / NHGRI NIH HHS / United States
U01HG006485 / HG / NHGRI NIH HHS / United States
U01HG006487 / HG / NHGRI NIH HHS / United States
U01HG006492 / HG / NHGRI NIH HHS / United States
U01HG006500 / HG / NHGRI NIH HHS / United States
U01HG006507 / HG / NHGRI NIH HHS / United States
U01HG006546 / HG / NHGRI NIH HHS / United States
U01HL098188 / HL / NHLBI NIH HHS / United States
UL1 TR000423 / TR / NCATS NIH HHS / United States
UL1RR02574 / RR / NCRR NIH HHS / United States
UL1TR000423 / TR / NCATS NIH HHS / United States