Dataset Information

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

ABSTRACT:

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.

SUBMITTER: Rasmussen LV

PROVIDER: S-EPMC5052555 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Publications

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Rasmussen Luke V LV Overby Casey L CL Connolly John J Chute Christopher G CG Denny Joshua C JC Freimuth Robert R Hartzler Andrea L AL Holm Ingrid A IA Manzi Shannon S Pathak Jyotishman J Peissig Peggy L PL Smith Maureen M Williams Marc S MS Shirts Brian H BH Stoffel Elena M EM Tarczy-Hornoch Peter P Rohrer Vitek Carolyn R CR Wolf Wendy A WA Starren Justin J

Applied clinical informatics 20160921 3

<h4>Objectives</h4>To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and approaches to delivery in clinical practice.<h4>Methods</h4>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.<h4>Results</h4>Eleven respo ...[more]

PMID: 27652374

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Project description:Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation. We aggregated data from seven sites across the National Institutes of Health's Clinical Sequencing Exploratory Research (CSER) consortium on each project's procedures for recruitment, and rates of and reasons for decline. Data were analyzed using descriptive statistics. The decline rate for enrollment at the seven CSER sites ranged from 12 to 64% (median 28%) and varied based on age and disease status. Projects differed in their protocols for approaching potential participants and obtaining informed consent. Reasons for declining GS research were reported for 1088 potential participants. Commonly cited reasons were similar to those reported for clinical single gene testing and non-GS genetic research. The most frequently cited reason for decline was study logistics (35%); thus, addressing logistical barriers to enrollment may positively impact GS study recruitment. Privacy and discrimination concerns were cited by 13% of decliners, highlighting the need for researchers and providers to focus educational efforts in this area. The potential psychological burden of pursuing and receiving results from GS and not wanting to receive secondary findings, a concern specific to GS, have been cited as concerns in the literature. A minority of potential participants cited psychological impact (8%) or not wanting to receive secondary findings (2%) as reasons for decline, suggesting that these concerns were not major barriers to participation in these GS studies. Further research is necessary to explore the impact, if any, of different participant groups or study protocols on rates of decline for GS studies. Future studies exploring GS implementation should consider using standardized collection methods to examine reasons for decline in larger populations and more diverse healthcare settings.

Dataset Information

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Objectives

Methods

Results

Conclusion

Publications

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Similar Datasets

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