Evidence map›Paper›PMID 32194985›Full record

ArticleNPJ genomic medicine2020

FHIR Genomics: enabling standardization for precision medicine use cases.

Gil Alterovitz, Bret Heale, James Jones, David Kreda, Fan Lin, Lei Liu, Xin Liu, Kenneth D Mandl, David W Poloway, Rachel Ramoni and 2 more

Abstract read
In one paragraph

Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
–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

29 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  12. Culture intelligent workflow, structure, and steps.Frontiers in artificial intelligence · 2023
    Review
  13. HL7 FHIR-based tools and initiatives to support clinical research: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2022
    Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. 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

12 authors.

Gil Alterovitz1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.ORCID 0000-0002-0495-7059
Bret Heale3Intermountain Healthcare, Salt Lake City, UT USA.ORCID 0000-0001-8190-9918
James Jones1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
David Kreda4Center for Biomedical Informatics, Harvard Medical School, Boston, MA USA.
Fan Lin1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
Lei Liu1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
Xin Liu1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
Kenneth D Mandl1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.ORCID 0000-0002-9781-0477
David W Poloway1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
Rachel Ramoni7Partners HealthCare, Boston, MA USA.
Alex Wagner8Division of Oncology, Washington University School of Medicine, St. Louis, MO USA.ORCID 0000-0002-2502-8961
Jeremy L Warner9Departments of Biomedical Informatics and Medicine, Vanderbilt University, Nashville, TN USA.ORCID 0000-0002-2851-7242

Funding

Georgetown-Howard Universities Center for Clinical and Translational Science (GHUUL1TR000101 · NCATS · GEORGETOWN UNIVERSITY · PI MELLMAN, THOMAS A, VERBALIS, JOSEPH G · 2012 to 2015
$19.3M
Network Analysis for a Data-Driven Approach to Cancer CareU01CA231840 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI WARNER, JEREMY LYLE · 2018 to 2020
$1.2M
TOOLS FOR NORMALIZING AND INTERPRETING THE CLINICAL ACTIONABILITY OF GENOMIC VARIANTSK99HG010157 · NHGRI · WASHINGTON UNIVERSITY · PI WAGNER, ALEX HANDLER · 2019 to 2020
$226k
NCATS NIH HHS UL1 TR000101NCI NIH HHS U01 CA231840NHGRI NIH HHS K99 HG010157
6 · The paper itself

Abstract

The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) "meta-knowledgebase" into a third-party application, is described.

Indexed as

Clinical geneticsData processingGenomicsHealth policyHigh-throughput screening

Identifiers

PMID32194985
PMCPMC7080712

What OpenQuestion holds

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LicenceCC BY
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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.