Evidence map›Paper›PMID 35341654›Full record

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

Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.

Jill A Madden, Kyle K Brothers, Janet L Williams, Melanie F Myers, Kathleen A Leppig, Ellen Wright Clayton, Georgia L Wiesner, Ingrid A Holm

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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Review
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.

Jill A MaddenDivision of Genetics & Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.
Kyle K BrothersDepartment of Pediatrics, School of Medicine, University of Louisville, Louisville, KY.
Janet L WilliamsGenomic Medicine Institute, Geisinger, Danville, PA.
Melanie F MyersDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, and College of Medicine, University of Cincinnati, Cincinnati, OH.
Kathleen A LeppigGenetic Services, Kaiser Permanente of Washington, Seattle, WA.
Ellen Wright ClaytonCenter for Biomedical Ethics and Society and Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.
Georgia L WiesnerDivision of Genetic Medicine, Department of Medicine, and Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN.
Ingrid A HolmDivision of Genetics & Genomics and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: ingrid.holm@childrens.harvard.edu.

Funding

Health Care Provider Responses to Receiving Unsolicited Genomic ResultsR01HG010004 · NHGRI · BOSTON CHILDREN'S HOSPITAL · PI HOLM, INGRID ADELE · 2018 to 2020
$1.9M
NHGRI NIH HHS R01 HG010004
6 · The paper itself

Abstract

purposeAs genomic sequencing becomes more common, medically actionable secondary findings will increasingly be returned to health care providers (HCPs), who will be faced with managing the resulting patient care. These findings are generally unsolicited, ie, unrelated to the sequencing indication and/or ordered by another clinician.

methodsTo understand the impact of receiving unsolicited results, we interviewed HCPs who received genomic results for patients enrolled in the Electronic Medical Records and Genomics (eMERGE) Phase III Network, which returned results on >100 actionable genes to eMERGE participants and HCPs.

resultsIn total, 16 HCPs across 3 eMERGE sites were interviewed about their experience of receiving a positive (likely pathogenic or pathogenic), negative, or variant of uncertain significance result for a patient enrolled in eMERGE Phase III and about managing their patient on the basis of the result. Although unsolicited, HCPs felt responsible for managing the patient's resulting medical care. HCPs indicated that clinical utility depended on the actionability of results, and whereas comfort levels varied, confidence was improved by the availability of subspecialist consults. HCPs were concerned about patient anxiety, insurability, and missing an actionable result in the electronic health record.

conclusionOur findings help inform best practices for return of unsolicited genomic screening findings in the future.

Indexed as

Electronic Health RecordsGenomeGenomicsHealth PersonnelHumansPopulation GroupsAttitudesEthicsHealth care providersReturn of research resultsUnsolicited genomic results

Identifiers

PMID35341654
PMCPMC9940614

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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.