Evidence map›Paper›PMID 30011878›Full record

ArticleHealthcare (Basel, Switzerland)2018

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.

Janet L Williams, Wendy K Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A Leppig, Eric B Larson and 7 more

Open access · goldAbstract read
In one paragraph

Article in Healthcare (Basel, Switzerland), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
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

16 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Article
  3. Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. The Role of Electronic Health Records in Advancing Genomic Medicine.Annual review of genomics and human genetics · 2021
    Review
  8. Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  9. Article
  10. Review
  11. Review
  12. Management of Secondary Genomic Findings.American journal of human genetics · 2020
    Review
  13. Review
  14. Article
  15. Article
  16. 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

17 authors at 9 institutions in 1 country.

Janet L WilliamsGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA. Jlwilliams3@geisinger.edu.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY 10025, USA. wkc15@cumc.columbia.edu.
Alex FedotovIrving Institute for Clinical and Translational Research, Columbia University, New York, NY 10025, USA. avf2117@cumc.columbia.edu.
Krzysztof KirylukDepartment of Medicine, Division of Nephrology, Columbia University, New York, NY 10025, USA. kk473@cumc.columbia.edu.
Chunhua WengDepartment of Biomedical Informatics, Columbia University, New York, NY 10025, USA. chunhua@columbia.edu.
John J ConnollyChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA. connollyj1@chop.edu.
Margaret HarrChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA. harrm@email.chop.edu.
Hakon HakonarsonChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA. hakonarson@email.chop.edu.
Kathleen A LeppigGenetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA. leppig.k@ghc.org.
Eric B LarsonKaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA. larson.e@ghc.org.
Gail P JarvikDepartments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA. gjarvik@medicine.washington.edu.
David L VeenstraDepartment Pharmacy, University of Washington, Seattle, WA 98195, USA. veenstra@uw.edu.
Christin HoellCenter for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA. christin.hoell@northwestern.edu.
Maureen E SmithCenter for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA. m-smith6@northwestern.edu.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Ingrid.Holm@childrens.harvard.edu.ORCID 0000-0003-4712-8821
Josh F PetersonDepartments of Biomedical Informatics and Medicine, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA. josh.peterson@Vanderbilt.Edu.
Marc S WilliamsGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA. mswilliams1@geisinger.edu.
Columbia University · USChildren's Hospital of Philadelphia · USNorthwestern University · USBoston Children's Hospital · USKaiser Permanente · USKaiser Permanente Washington Health Research Institute · USUniversity of Washington · USUniversity of Washington Medical Center · USVanderbilt University · US

Funding

Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
The Clinical Genome Resource - Expert Curation and EHR IntegrationU41HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, GODDARD, KATRINA A. · 2017 to 2020
$13.3M
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
A Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE ExperienceU01HG006388 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2011 to 2014
$4.1M
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 HG006388NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008701NHGRI NIH HHS U41 HG009650
6 · The paper itself

Abstract

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.

Indexed as

ClinGeneMERGEevidencegenomic medicinegenomicshealth outcomesprecision public healthstandards

Identifiers

PMID30011878
PMCPMC6164315
OpenAlexW2807495917

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.