Evidence map›Paper›PMID 35216901›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Kathleen A Leppig, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Harris T Bland, Adam Buchanan, Kurt D Christensen, Wendy K Chung, Ellen Wright Clayton, David Crosslin and 35 more

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Trial
  2. Review
  3. Article
  4. Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
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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

45 authors.

Kathleen A LeppigKaiser Permanente of Washington, Seattle, WA. Electronic address: Kathleen.A.Leppig@kp.org.
Alanna Kulchak RahmGeisinger, Danville, PA.
Paul AppelbaumColumbia University, New York, NY.
Sharon AufoxNorthwestern University, Evanston IL.
Harris T BlandVanderbilt University Medical Center, Nashville, TN.
Adam BuchananGeisinger, Danville, PA.
Kurt D ChristensenHarvard University, Cambridge, MA.
Wendy K ChungColumbia University, New York, NY.
Ellen Wright ClaytonVanderbilt University Medical Center, Nashville, TN.
David CrosslinUniversity of Washington, Seattle, WA.
Josh DennyNational Institutes of Health, Bethesda, MD.
Shannon DeVangeKaiser Permanente of Washington, Seattle, WA.
Adam GordonNorthwestern University, Evanston IL.
Robert C GreenVanderbilt University Medical Center, Nashville, TN.
Hakon HakonarsonChildren's Hospital of Philadelphia, Philadelphia, PA.
Margaret H HarrChildren's Hospital of Philadelphia, Philadelphia, PA.
Nora HenriksonKaiser Permanente Washington Health Research Institute, Seattle, WA.
Christin HoellNorthwestern University, Evanston IL.
Ingrid A HolmBoston Children's Hospital, Boston, MA.
Iftikhar J KulloMayo Clinic, Rochester, MN.
Gail P JarvikUniversity of Washington, Seattle, WA.
Philip E LammersBaptist Memorial Health Center, Memphis, TN.
Eric B LarsonKaiser Permanente Washington Health Research Institute, Seattle, WA.
Noralane M LindorMayo Clinic, Rochester, MN.
Maddalena MarasaColumbia University, New York, NY.
Melanie F MyersCincinnati Children's Hospital and Medical Center, Cincinnati, OH.
Emma PerezHarvard University, Cambridge, MA.
Josh F PetersonVanderbilt University Medical Center, Nashville, TN.
Siddharth PratapMeharry Medical College, Nashville, TN.
Cynthia A ProwsCincinnati Children's Hospital and Medical Center, Cincinnati, OH.
James D RalstonKaiser Permanente Washington Health Research Institute, Seattle, WA.
Hila Milo RasoulyColumbia University, New York, NY.
Dan M RodenVanderbilt University Medical Center, Nashville, TN.
Richard R SharpMayo Clinic, Rochester, MN.
Rajbir SinghMeharry Medical College, Nashville, TN.
Gabriel ShaibiArizona State University, Tempe, AZ.
Maureen E SmithNorthwestern University, Evanston IL.
Amy SturmGeisinger, Danville, PA.
Heidi A ThieseKaiser Permanente of Washington, Seattle, WA.
Sara L Van DriestNorthwestern University, Evanston IL.
Janet WilliamsGeisinger, Danville, PA.
Marc S WilliamsGeisinger, Danville, PA.
Julia WynnColumbia University, New York, NY.
Carrie L Blout ZawatskyHarvard University, Cambridge, MA.
Georgia L WiesnerVanderbilt University Medical Center, Nashville, TN.

Funding

Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8M
Technologies and Resources CoreU54MD007593 · NIMHD · MEHARRY MEDICAL COLLEGE · PI ADUNYAH, SAMUEL EVANS · 2012 to 2018
$24.7M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
OMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3M
DNA Sequencing Support for the eMERGE NetworkU01HG008664 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2015 to 2019
$10.9M
Global Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6M
The Electronic Medical Records and Genomics (eMERGE) Network Phase III Coordinating Center (U01)U01HG008701 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PETERSON, JOSEPH F. · 2015 to 2019
$7.1M
VGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1M
The Future of Genomics Medicine in Patient Care: Contributions from CHOPU01HG008684 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2015 to 2019
$5.0M
OMOP information model for eMERGE phenotypingU01HG008679 · NHGRI · GEISINGER CLINIC · PI WILLIAMS, MARC S. · 2015 to 2019
$4.4M
NCATS NIH HHS UL1 TR001422NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008664NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U01 HG008679NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008684NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG008701NIMHD NIH HHS U54 MD007593
6 · The paper itself

Abstract

purposeThe goal of Electronic Medical Records and Genomics (eMERGE) Phase III Network was to return actionable sequence variants to 25,084 consenting participants from 10 different health care institutions across the United States. The purpose of this study was to evaluate system-based issues relating to the return of results (RoR) disclosure process for clinical grade research genomic tests to eMERGE3 participants.

methodsRoR processes were developed and approved by each eMERGE institution's internal review board. Investigators at each eMERGE3 site were surveyed for RoR processes related to the participant's disclosure of pathogenic or likely pathogenic variants and engagement with genetic counseling. Standard statistical analysis was performed.

resultsOf the 25,084 eMERGE participants, 1444 had a pathogenic or likely pathogenic variant identified on the eMERGEseq panel of 67 genes and 14 single nucleotide variants. Of these, 1077 (74.6%) participants had results disclosed, with 562 (38.9%) participants provided with variant-specific genetic counseling. Site-specific processes that either offered or required genetic counseling in their RoR process had an effect on whether a participant ultimately engaged with genetic counseling (P = .0052).

conclusionThe real-life experience of the multiarm eMERGE3 RoR study for returning actionable genomic results to consented research participants showed the impact of consent, method of disclosure, and genetic counseling on RoR.

Indexed as

GenomeGenomicsDisclosureGenetic CounselingHumansPopulation GroupsConsenteMERGEGenetic counselingGenomic medicineReturn of results

Identifiers

PMID35216901
PMCPMC10074557

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