Dataset Information

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

ABSTRACT:

Objective

The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings.

Materials and methods

Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy.

Results

Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address.

Discussion

Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.

SUBMITTER: Wiley K

PROVIDER: S-EPMC9277642 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

Wiley Ken K Findley Laura L Goldrich Madison M Rakhra-Burris Tejinder K TK Stevens Ana A Williams Pamela P Bult Carol J CJ Chisholm Rex R Deverka Patricia P Ginsburg Geoffrey S GS Green Eric D ED Jarvik Gail G Mensah George A GA Ramos Erin E Relling Mary V MV Roden Dan M DM Rowley Robb R Alterovitz Gil G Aronson Samuel S Bastarache Lisa L Cimino James J JJ Crowgey Erin L EL Del Fiol Guilherme G Freimuth Robert R RR Hoffman Mark A MA Jeff Janina J Johnson Kevin K Kawamoto Kensaku K Madhavan Subha S Mendonca Eneida A EA Ohno-Machado Lucila L Pratap Siddharth S Taylor Casey Overby CO Ritchie Marylyn D MD Walton Nephi N Weng Chunhua C Zayas-Cabán Teresa T Manolio Teri A TA Williams Marc S MS

Journal of the American Medical Informatics Association : JAMIA 20220701 8

<h4>Objective</h4>The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings.<h4>Materials and methods</h4>Experts from go ...[more]

PMID: 35485600

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Project description:ObjectiveUnderstand perceived barriers to and facilitators of using clinical informatics applications for pharmacogenomic (PGx) implementation in resource-limited settings.Materials and methodsWe conducted a qualitative research study using a semi-structured interview guide informed by the Consolidated Framework for Implementation Research (CFIR). Interview questions assessed CFIR contextual determinants related to: electronic health record (EHR) infrastructure; clinical informatics personnel and resources; EHR integration of PGx test results; PGx clinical decision support (CDS) tools; institutional resources; and partner receptivity. Transcripts were coded and analyzed to identify themes.ResultsWe interviewed 24 clinical informaticists and executive leaders working in rural or underserved health care settings in Montana (n = 15) and Colorado (n = 9) and identified three major themes: (1) EHR infrastructure limitations, (2) insufficient supporting resources, and (3) unique contextual considerations for resource-limited settings. EHR infrastructure limitations included limited agency related to EHR build and interoperability concerns. Theme 1 highlighted challenges associated with integrating structured data into the EHR and inadequate vendor support. Theme 2 included limited familiarity with PGx across the care team, cost concerns, and allocation of non-financial resources. Theme 3 highlighted perceptions about the clinical utility of PGx within rural and underrepresented populations. Potential facilitators, such as being able to act nimbly, were found to coexist among the reported barriers.Discussion and conclusionOur results provide insight into the clinical informatics infrastructure in resource-limited settings and identify unique considerations for clinical informatics-facilitated PGx implementation. Future efforts in these settings should consider innovative partnerships and strategies to leverage facilitators and minimize barriers associated with integrating PGx CDS applications.

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Dataset Information

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

Objective

Materials and methods

Results

Discussion

Publications

A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.

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