Evidence map›Paper›PMID 42422046›Full record

ArticleACI open2020

Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR.

Luke V Rasmussen, Christin Hoell, Maureen E Smith, Rex Chisholm, Justin Starren, Sharon Aufox, Yuan Luo, Laura J Rasmussen-Torvik

Abstract read
In one paragraph

Article in ACI open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Beyond traditional orthopaedic data analysis: AI, multimodal models and continuous monitoring.Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA · 2025
    Review
  2. Article
  3. 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.

Luke V RasmussenDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Christin HoellCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Maureen E SmithCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Rex ChisholmCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Justin StarrenDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Sharon AufoxCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Yuan LuoDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.
Laura J Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States.

Funding

Northwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI REX L CHISHOLM, Elizabeth M McNally · 2020 to 2026
$7.4M
Genomic Medicine at Northwestern: Discovery and ImplementationU01HG008673 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2015 to 2019
$4.1M
NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG011169
6 · The paper itself

Abstract

Background: While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives: This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations. Methods: We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results: When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion: We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion: We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

Indexed as

electronic health recordgeneticsprecision medicine

Identifiers

PMID42422046
PMCPMC13344334

What OpenQuestion holds

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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.