Literature DB >> 29860405

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Samuel Aronson1,2, Lawrence Babb3, Darren Ames4, Richard A Gibbs5, Eric Venner5, John J Connelly6, Keith Marsolo7,8, Chunhua Weng9, Marc S Williams10, Andrea L Hartzler11,12, Wayne H Liang13,14, James D Ralston11,12, Emily Beth Devine12, Shawn Murphy1, Christopher G Chute15, Pedro J Caraballo16, Iftikhar J Kullo17, Robert R Freimuth18, Luke V Rasmussen19, Firas H Wehbe19, Josh F Peterson20, Jamie R Robinson20, Ken Wiley21, Casey Overby Taylor10,15.   

Abstract

The eMERGE Network is establishing methods for electronic transmittal of patient genetic test results from laboratories to healthcare providers across organizational boundaries. We surveyed the capabilities and needs of different network participants, established a common transfer format, and implemented transfer mechanisms based on this format. The interfaces we created are examples of the connectivity that must be instantiated before electronic genetic and genomic clinical decision support can be effectively built at the point of care. This work serves as a case example for both standards bodies and other organizations working to build the infrastructure required to provide better electronic clinical decision support for clinicians.

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Year:  2018        PMID: 29860405      PMCID: PMC6188517          DOI: 10.1093/jamia/ocy051

Source DB:  PubMed          Journal:  J Am Med Inform Assoc        ISSN: 1067-5027            Impact factor:   4.497


  12 in total

1.  CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

Authors:  Brian H Shirts; Joseph S Salama; Samuel J Aronson; Wendy K Chung; Stacy W Gray; Lucia A Hindorff; Gail P Jarvik; Sharon E Plon; Elena M Stoffel; Peter Z Tarczy-Hornoch; Eliezer M Van Allen; Karen E Weck; Christopher G Chute; Robert R Freimuth; Robert W Grundmeier; Andrea L Hartzler; Rongling Li; Peggy L Peissig; Josh F Peterson; Luke V Rasmussen; Justin B Starren; Marc S Williams; Casey L Overby
Journal:  J Am Med Inform Assoc       Date:  2015-07-03       Impact factor: 4.497

Review 2.  Electronic Medical Record-Integrated Pharmacogenomics and Related Clinical Decision Support Concepts.

Authors:  P J Caraballo; S J Bielinski; J L St Sauver; R M Weinshilboum
Journal:  Clin Pharmacol Ther       Date:  2017-05-26       Impact factor: 6.875

3.  Technical desiderata for the integration of genomic data with clinical decision support.

Authors:  Brandon M Welch; Karen Eilbeck; Guilherme Del Fiol; Laurence J Meyer; Kensaku Kawamoto
Journal:  J Biomed Inform       Date:  2014-06-12       Impact factor: 6.317

4.  Top ten challenges when interfacing a laboratory information system to an electronic health record: Experience at a large academic medical center.

Authors:  Athena K Petrides; Milenko J Tanasijevic; Ellen M Goonan; Adam B Landman; Michalis Kantartjis; David W Bates; Stacy E F Melanson
Journal:  Int J Med Inform       Date:  2017-06-30       Impact factor: 4.046

5.  Technical desiderata for the integration of genomic data into Electronic Health Records.

Authors:  Daniel R Masys; Gail P Jarvik; Neil F Abernethy; Nicholas R Anderson; George J Papanicolaou; Dina N Paltoo; Mark A Hoffman; Isaac S Kohane; Howard P Levy
Journal:  J Biomed Inform       Date:  2011-12-27       Impact factor: 6.317

6.  The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.

Authors:  Samuel J Aronson; Eugene H Clark; Lawrence J Babb; Samantha Baxter; Lisa M Farwell; Birgit H Funke; Amy Lovelette Hernandez; Victoria A Joshi; Elaine Lyon; Andrew R Parthum; Franklin J Russell; Matthew Varugheese; Thomas C Venman; Heidi L Rehm
Journal:  Hum Mutat       Date:  2011-03-22       Impact factor: 4.878

7.  Crossing the omic chasm: a time for omic ancillary systems.

Authors:  Justin Starren; Marc S Williams; Erwin P Bottinger
Journal:  JAMA       Date:  2013-03-27       Impact factor: 56.272

8.  Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

Authors:  Heather Stuckey; Janet L Williams; Audrey L Fan; Alanna Kulchak Rahm; Jamie Green; Lynn Feldman; Michele Bonhag; Doris T Zallen; Michael M Segal; Marc S Williams
Journal:  Am J Med Genet A       Date:  2015-06-18       Impact factor: 2.802

9.  SMART on FHIR: a standards-based, interoperable apps platform for electronic health records.

Authors:  Joshua C Mandel; David A Kreda; Kenneth D Mandl; Isaac S Kohane; Rachel B Ramoni
Journal:  J Am Med Inform Assoc       Date:  2016-02-17       Impact factor: 4.497

10.  Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.

Authors:  Jeffrey G Reid; Andrew Carroll; Narayanan Veeraraghavan; Mahmoud Dahdouli; Andreas Sundquist; Adam English; Matthew Bainbridge; Simon White; William Salerno; Christian Buhay; Fuli Yu; Donna Muzny; Richard Daly; Geoff Duyk; Richard A Gibbs; Eric Boerwinkle
Journal:  BMC Bioinformatics       Date:  2014-01-29       Impact factor: 3.169

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  9 in total

1.  ARBoR: an identity and security solution for clinical reporting.

Authors:  Eric Venner; Mullai Murugan; Walker Hale; Jordan M Jones; Shan Lu; Victoria Yi; Richard A Gibbs
Journal:  J Am Med Inform Assoc       Date:  2019-11-01       Impact factor: 4.497

2.  Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Authors: 
Journal:  Am J Hum Genet       Date:  2019-08-22       Impact factor: 11.025

3.  The roles of the US National Library of Medicine and Donald A.B. Lindberg in revolutionizing biomedical and health informatics.

Authors:  Randolph A Miller; Edward H Shortliffe
Journal:  J Am Med Inform Assoc       Date:  2021-11-25       Impact factor: 7.942

4.  Pathway analysis of genomic pathology tests for prognostic cancer subtyping.

Authors:  Olga Lyudovyk; Yufeng Shen; Nicholas P Tatonetti; Susan J Hsiao; Mahesh M Mansukhani; Chunhua Weng
Journal:  J Biomed Inform       Date:  2019-09-06       Impact factor: 6.317

5.  Integrating pharmacogenomics into the electronic health record by implementing genomic indicators.

Authors:  Pedro J Caraballo; Joseph A Sutton; Jyothsna Giri; Jessica A Wright; Wayne T Nicholson; Iftikhar J Kullo; Mark A Parkulo; Suzette J Bielinski; Ann M Moyer
Journal:  J Am Med Inform Assoc       Date:  2020-01-01       Impact factor: 4.497

6.  Genomic considerations for FHIR®; eMERGE implementation lessons.

Authors:  Mullai Murugan; Lawrence J Babb; Casey Overby Taylor; Luke V Rasmussen; Robert R Freimuth; Eric Venner; Fei Yan; Victoria Yi; Stephen J Granite; Hana Zouk; Samuel J Aronson; Kevin Power; Alex Fedotov; David R Crosslin; David Fasel; Gail P Jarvik; Hakon Hakonarson; Hana Bangash; Iftikhar J Kullo; John J Connolly; Jordan G Nestor; Pedro J Caraballo; WeiQi Wei; Ken Wiley; Heidi L Rehm; Richard A Gibbs
Journal:  J Biomed Inform       Date:  2021-04-28       Impact factor: 8.000

7.  An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results.

Authors:  Jordan G Nestor; Alexander Fedotov; David Fasel; Maddalena Marasa; Hila Milo-Rasouly; Julia Wynn; Wendy K Chung; Ali Gharavi; George Hripcsak; Suzanne Bakken; Soumitra Sengupta; Chunhua Weng
Journal:  JAMIA Open       Date:  2021-03-01

8.  The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.

Authors:  Elena Valeryevna Feofanova; Guo-Qiang Zhang; Samden Lhatoo; Ginger A Metcalf; Eric Boerwinkle; Eric Venner
Journal:  JMIR Res Protoc       Date:  2021-03-26

Review 9.  Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.

Authors: 
Journal:  HGG Adv       Date:  2020-12-25
  9 in total

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