Evidence map›Paper›PMID 32323283›Full record

ArticleApplied clinical informatics2020

Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care.

Stephanie J Garcia, Teresa Zayas-Cabán, Robert R Freimuth

Abstract read
In one paragraph

Article in Applied clinical informatics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.Journal of the American Medical Informatics Association : JAMIA · 2023
    Article
  6. Article
  7. HL7 FHIR-based tools and initiatives to support clinical research: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2022
    Article
  8. Article
  9. Article
  10. Article
  11. Meeting the challenge: Health information technology's essential role in achieving precision medicine.Journal of the American Medical Informatics Association : JAMIA · 2021
    Article
  12. 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

3 authors.

Stephanie J GarciaOffice of the National Coordinator for Health Information Technology, Washington, District of Columbia, United States.
Teresa Zayas-CabánOffice of the National Coordinator for Health Information Technology, Washington, District of Columbia, United States.
Robert R FreimuthDivision of Digital Health Sciences, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMaking genomic data available at the point-of-care and for research is critical for the success of the Precision Medicine Initiative (PMI), a research initiative which seeks to change health care by "tak(ing) into account individual differences in people's genes, environments, and lifestyles." The Office of the National Coordinator for Health Information Technology (ONC) led Sync for Genes, a program to develop standards that make genomic data available when and where it matters most. This article discusses lessons learned from recent Sync for Genes activities.

objectivesThe goals of Sync for Genes were to (1) demonstrate exchange of genomic data using health data standards, (2) provide feedback for refinement of health data standards, and (3) synthesize project experiences to support the integration of genomic data at the point-of-care and for research.

methodsFour organizations participated in a program to test the Health Level Seven International (HL7

resultsThe organizations successfully demonstrated exchange of genomic diagnostic reports using FHIR. The feedback and artifacts that resulted from these activities were shared with HL7 and made publicly available. Four areas were identified as important considerations for similar projects: (1) FHIR proficiency, (2) developer support, (3) project scope, and (4) bridging health information technology and genomic expertise.

conclusionPrecision medicine is a rapidly evolving field, and there is opportunity to continue maturing health data standards for the exchange of necessary genomic data, increasing the likelihood that the standard supports the needs of users.

Indexed as

GenomicsPoint-of-Care SystemsHumansMedical InformaticsPrecision Medicine

Identifiers

PMID32323283
PMCPMC7176556

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.