Appl Clin Inform 2016; 07(03): 870-882
DOI: 10.4338/ACI-2016-04-RA-0060
Research Article
Schattauer GmbH

Practical considerations for implementing genomic information resources

Experiences from eMERGE and CSER
Luke V. Rasmussen
1  Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago IL
,
Casey L. Overby
2  Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD
3  Genomic Medicine Institute, Geisinger Health System, Danville, PA
,
John Connolly
4  The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA
,
Christopher G. Chute
2  Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD
,
Joshua C. Denny
5  Vanderbilt University Medical Center, Vanderbilt University Medical Center, Nashville, TN
,
Robert R. Freimuth
6  Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN
,
Andrea L. Hartzler
7  Group Health Research Institute, Group Health Cooperative, Seattle, WA
,
Ingrid A. Holm
8  Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children’s Hospital, Boston, MA
9  Department of Pediatrics, Harvard Medical School, Boston, MA
,
Shannon Manzi
10  Department of Pharmacy and Division of Genetics & Genomics, Boston Children’s Hospital, Boston MA
,
Jyotishman Pathak
11  Division of Health Informatics, Weill Cornell Medical College, Cornell University, New York City, NY
,
Peggy L. Peissig
12  Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield WI
,
Maureen Smith
13  Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL
,
Marc S. Williams
3  Genomic Medicine Institute, Geisinger Health System, Danville, PA
,
Brian H. Shirts
14  Department of Laboratory Medicine, University of Washington, Seattle, WA
,
Elena M. Stoffel
15  Department of Internal Medicine, University of Michigan, Ann Arbor, MI
,
Peter Tarczy-Hornoch
16  Departments of Biomedical Informatics and Medical Education; Pediatrics; Computer Science and Engineering, University of Washington Seattle WA
,
Carolyn R. Rohrer Vitek
17  Center for Individualized Medicine, Mayo Clinic, Rochester, MN
,
Wendy A. Wolf
10  Department of Pharmacy and Division of Genetics & Genomics, Boston Children’s Hospital, Boston MA
18  Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA
19  Unitio, Inc., Boston, MA
,
Justin Starren
1  Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago IL
› Author Affiliations
Funding The eMERGE Network was initiated and funded by NHGRI through the following grants: U01HG006828 (Cincinnati Children’s Hospital Medical Center/Boston Children’s Hospital); U01HG006830 (Children’s Hospital of Philadelphia); U01HG006389 (Essentia Institute of Rural Health, Marshfield Clinic Research Foundation and Pennsylvania State University); U01HG006382 (Geisinger Clinic); U01HG006375 (Group Health Cooperative/University of Washington); U01HG006379 (Mayo Clinic); U01HG006380 (Icahn School of Medicine at Mount Sinai); U01HG006388 (Northwestern University); U01HG006378 (Vanderbilt University Medical Center); and U01HG006385 (Vanderbilt University Medical Center serving as the Coordinating Center).
The Clinical Sequencing Exploratory Research Program (CSER) was initiated and funded by NHGRI and the NCI through the following grants: U01 HG006485 (Baylor College of Medicine); U01 HG006500 (Brigham & Women’s Hospital); U01 HG006546 (Children’s Hospital of Philadelphia); R01 HG006600 (Columbia University); U01 HG006492 (Dana-Farber Cancer Institute); UM1 HG007301 (HudsonAlpha Institute); UM1 HG007292 (Kaiser Permanente); UM1 HG006508 (University of Michigan); U01 HG006487 (University of North Carolina); U01 HG006507 (University of Washington); and U01 HG007307 (University of Washington serving as the Coordinating Center).
Further Information

Publication History

received: 06 May 2016

accepted: 12 August 2016

Publication Date:
19 December 2017 (online)

Summary

Objectives

To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and approaches to delivery in clinical practice.

Methods

We conducted a survey of genomic content use and its clinical delivery from representatives across eight institutions in the electronic Medical Records and Genomics (eMERGE) network and two institutions in the Clinical Sequencing Exploratory Research (CSER) consortium in 2014.

Results

Eleven responses representing distinct projects across ten sites showed heterogeneity in how content is being delivered, with provider-facing content primarily delivered via the electronic health record (EHR) (n=10), and paper/pamphlets as the leading mode for patient-facing content (n=9). There was general agreement (91%) that new content is needed for patients and providers specific to genomics, and that while aspects of this content could be shared across institutions there remain site-specific needs (73% in agreement).

Conclusion

This work identifies a need for the improved access to and expansion of information resources to support genomic medicine, and opportunities for content developers and EHR vendors to partner with institutions to develop needed resources, and streamline their use – such as a central content site in multiple modalities while implementing approaches to allow for site-specific customization.

Citation: Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth RR, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Practical considerations for implementing genomic information resources – experiences from eMERGE and CSER.