Evidence map›Paper›PMID 37246632›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2023

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

John J Connolly, Eta S Berner, Maureen Smith, Samuel Levy, Shannon Terek, Margaret Harr, Dean Karavite, Sabrina Suckiel, Ingrid A Holm, Kevin Dufendach and 25 more

Abstract readReview
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
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  3. Review
  4. Review
  5. Article
  6. Article
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  8. Article
  9. Review
  10. Article
  11. Celebrating Eta Berner and her influence on biomedical and health informatics.Journal of the American Medical Informatics Association : JAMIA · 2024
    Article
  12. 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

35 authors.

John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, PA. Electronic address: connollyj1@chop.edu.
Eta S BernerDepartment of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL.
Maureen SmithCenter for Genetic Medicine, Department of Medicine, Northwestern University, Chicago, IL.
Samuel LevyCenter for Applied Genomics, Children's Hospital of Philadelphia, PA.
Shannon TerekCenter for Applied Genomics, Children's Hospital of Philadelphia, PA.
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia, PA.
Dean KaraviteDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA.
Sabrina SuckielThe Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, MA.
Kevin DufendachDepartment of Pediatrics, University of Cincinnati, Cincinnati, OH.
Catrina NelsonCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Atlas KhanDivision of Nephrology, Dept of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY.
Rex L ChisholmCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL.
Aimee AllworthDepartment of Medical Genetics, University of Washington, Seattle, WA.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Harris T BlandDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Ellen Wright ClaytonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN; Vanderbilt University Law School, Nashville, TN.
Emily R SoperThe Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Jodell E LinderVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Nita A LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Alexandra MillerDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
Scott NigburDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Marwan HamedDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Alborz SherafatiDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Anna C F LewisEdmond and Lily Safra Center for Ethics, Harvard, MA; Brigham and Women's Hospital, Boston, MA.
Emma PerezMass General Brigham Personalized Medicine, Brigham and Women's Hospital, Boston, MA.
Lori A OrlandoDepartment of Medicine, Duke University, Durham, NC.
Tejinder K Rakhra-BurrisDepartment of Medicine, Duke University, Durham, NC.
Mustafa Al-DulaimiDepartment of Biology, The College of Idaho, Caldwell, ID.
Selma CifricDepartment of Biology, The College of Idaho, Caldwell, ID.
Courtney Lynam ScherrSchool of Communication | Department of Communication Studies, Northwestern University, Chicago, IL.
Julia WynnDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
Maya SabatelloCenter for Precision Medicine & Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, NY; Division of Ethics, Department of Medical Humanities & Ethics, Columbia University Irving Medical Center, New York, NY. Electronic address: ms4075@cumc.columbia.edu.

Funding

Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4M
The eMERGE Risk Assessment Network - Coordinating CenterU01HG011166 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Niall John Lennon, Joseph F. Peterson · 2020 to 2026
$16.8M
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
Genomic risk in clinic care to promote health equity in New York City patientsU01HG011176 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NOURA SERENE ABUL-HUSN, Eimear Elizabeth Kenny · 2020 to 2026
$10.4M
Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3M
Integrating Genomic Risk Assessment for Disease Management in a Clinical PopulationU01HG011167 · NHGRI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI JAMES J CIMINO, NITA A LIMDI · 2020 to 2026
$9.3M
Northwestern Genomic Risk Assessment and Management ProgramU01HG011169 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI REX L CHISHOLM, Elizabeth M McNally · 2020 to 2026
$7.4M
Polygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2M
Vanderbilt Genome-Electronic Records (VGER) ProjectU01HG011181 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DAN M RODEN, Digna R Velez Edwards · 2020 to 2026
$7.0M
NCATS NIH HHS UL1 TR004419NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011166NHGRI NIH HHS U01 HG011167NHGRI NIH HHS U01 HG011169NHGRI NIH HHS U01 HG011172NHGRI NIH HHS U01 HG011175NHGRI NIH HHS U01 HG011176NHGRI NIH HHS U01 HG011181
6 · The paper itself

Abstract

Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (∼2-10% per condition) for 1 or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes. All 10 eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders-participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources. This paper summarizes eMERGE's collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided.

Indexed as

Electronic Health RecordsEthnicityAdultChildGenomicsHumansMinority GroupsRisk FactorsEducationeMERGEGenome-Informed Risk ReportPolygenic risk scorePRS

Identifiers

PMID37246632
PMCPMC10527667

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.