Evidence map›Paper›PMID 35485600›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2022

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

Ken Wiley, Laura Findley, Madison Goldrich, Tejinder K Rakhra-Burris, Ana Stevens, Pamela Williams, Carol J Bult, Rex Chisholm, Patricia Deverka, Geoffrey S Ginsburg and 29 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Genetically guided precision medicine clinical decision support tools: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2024
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Impact of integrating genomic data into the electronic health record on genetics care delivery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors.

Ken WileyNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Laura FindleyNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Madison GoldrichNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Tejinder K Rakhra-BurrisDepartment of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA.
Ana StevensNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Pamela WilliamsDepartment of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA.
Carol J BultThe Jackson Laboratory, Bar Harbor, Maine, USA.ORCID 0000-0001-9433-210X
Rex ChisholmFeinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Patricia DeverkaCenter for Translational and Policy Research in Precision Medicine, University of California at San Francisco, San Francisco, California, USA.
Geoffrey S GinsburgAll of Us Research Program, National Institutes of Health, Bethesda, Maryland, USA.
Eric D GreenNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gail JarvikDivision of Medical Genetics, University of Washington, Seattle, Washington, USA.
George A MensahNational Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
Erin RamosNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Mary V RellingPharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Dan M RodenDepartments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.ORCID 0000-0002-6302-0389
Robb RowleyNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gil AlterovitzDepartment of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Samuel AronsonMass General Brigham, Research Information Sciences and Computing, Somerville, Massachusetts, USA.
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
James J CiminoHeersink School of Medicine, University of Alabama at Birmingham, Alabama, USA.ORCID 0000-0003-4101-1622
Erin L CrowgeyNemours Children's Health, Wilmington, Delaware, USA.
Guilherme Del FiolDepartment of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID 0000-0001-9954-6799
Robert R FreimuthDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Mark A HoffmanSchool of Medicine, Children's Mercy Hospital Kansas City, University of Missouri Kansas City, Lees Summit, Missouri, USA.ORCID 0000-0003-3140-6524
Janina JeffIllumina, San Diego, California, USA.
Kevin JohnsonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Kensaku KawamotoDepartment of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID 0000-0003-4282-9338
Subha MadhavanInnovation Center for Biomedical Informatics, Georgetown University, Washington, District of Columbia, USA.
Eneida A MendoncaRegenstrief Institute, Inc., Indianapolis, Indiana, USA.
Lucila Ohno-MachadoDepartment of Biomedical Informatics, University of California San Diego, La Jolla, California, USA.
Siddharth PratapBioinformatics Core, Meharry Medical College, Nashville, Tennessee, USA.
Casey Overby TaylorDepartment of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Marylyn D RitchieDepartment of Genetics, Perelman School of Medicine, Institute for Biomedical Informatics, Penn Center for Precision Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Nephi WaltonIntermountain Precision Genomics, Intermountain Healthcare, St George, Utah, USA.
Chunhua WengDepartment of Biomedical Informatics, Columbia University, New York, New York, USA.
Teresa Zayas-CabánNational Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA.
Teri A ManolioNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Marc S WilliamsGeisinger, Genomic Medicine Institute, Danville, Pennsylvania, USA.

Funding

The IGNITE II CC: Engagement, Coordination, Demonstration, and DisseminationU01HG010225 · NHGRI · DUKE UNIVERSITY · PI CHAKRABORTY, HRISHIKESH, WYATT, CHRISTINA M · 2018 to 2024
$15.1M
NHGRI NIH HHS U01 HG010225
6 · The paper itself

Abstract

objectiveThe 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

methodsExperts 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.

resultsOutcomes 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.

Indexed as

Medical InformaticsElectronic Health RecordsGenome, HumanGenomicsHumansResearch Designclinical decision support systemsclinical informaticsgenomics

Identifiers

PMID35485600
PMCPMC9277642

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.