Evidence map›Paper›PMID 34429527›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021

A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory's perspective.

Aly Khalifa, Clinton C Mason, Jennifer Hornung Garvin, Marc S Williams, Guilherme Del Fiol, Brian R Jackson, Steven B Bleyl, Stanley M Huff

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Aly KhalifaDepartment of Biomedical Informatcs, School of Medicine, University of Utah, Salt Lake City, UT, USA. aly.khalifa@utah.edu.
Clinton C MasonDepartment of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Jennifer Hornung GarvinDepartment of Biomedical Informatcs, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Guilherme Del FiolDepartment of Biomedical Informatcs, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Brian R JacksonDepartment of Biomedical Informatcs, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Steven B BleylDepartment of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Stanley M HuffDepartment of Biomedical Informatcs, School of Medicine, University of Utah, Salt Lake City, UT, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeGenetic laboratory test reports can often be of limited computational utility to the receiving clinical information systems, such as clinical decision support systems. Many health-care interoperability (HC) standards aim to tackle this problem, but the perceived benefits, challenges, and motivations for implementing HC interoperability standards from the labs' perspective has not been systematically assessed.

methodsWe surveyed genetic testing labs across the United States and conducted a semistructured interview with responding lab representatives. We conducted a thematic analysis of the interview transcripts to identify relevant themes. A panel of experts discussed and validated the identified themes.

resultsNine labs participated in the interview, and 24 relevant themes were identified within five domains. These themes included the challenge of complex and changing genetic knowledge, the motivation of competitive advantage, provided financial incentives, and the benefit of supporting the learning health system.

conclusionOur study identified the labs' perspective on various aspects of implementing HC interoperability standards in producing and communicating genetic test reports. Interviewees frequently reported that increased adoption of HC standards may be motivated by competition and programs incentivizing and regulating the incorporation of interoperability standards for genetic test data, which could benefit quality control, research, and other areas.

Indexed as

LaboratoriesMotivationDelivery of Health CareGenetic TestingHumansInformaticsUnited States

Identifiers

PMID34429527

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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.