Evidence map›Paper›PMID 40391568›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.

Laura J Rasmussen-Torvik, Katherine E Bonini, Margaret H Harr, Mohammad Ali Abbass, Hana Bangash, Harris T Bland, Brenna M Boyd, Wendy K Chung, Ellen W Clayton, Stuart J Cohen and 19 more

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

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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

29 authors.

Laura J Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address: ljrtorvik@northwestern.edu.
Katherine E BoniniInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Margaret H HarrCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Mohammad Ali AbbassDepartment of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Harris T BlandDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Brenna M BoydDepartment of Pediatrics, Columbia University, New York, NY.
Wendy K ChungDepartment of Pediatrics, Harvard Medical School, Boston, MA; Boston Children's Hospital, Boston, MA.
Ellen W ClaytonCenter for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN.
Stuart J CohenDepartment of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Catherine GascoigneInsittue for Public Health and Medicine, Vanderbilt University Medical Center, Nashville, TN.
Valentina HernandezCollaborative Research, Mountain Park Health Center, Phoenix, AZ.
Ingrid A HolmDepartment of Pediatrics, Harvard Medical School, Boston, MA; Boston Children's Hospital, Boston, MA.
Martha Horike-PyneDepartment of Medicine, University of Washington School of Medicine, Seattle, WA.
Gail P JarvikDepartment of Medicine, University of Washington School of Medicine, Seattle, WA.
Elizabeth W KarlsonDepartment of Medicine, Brigham and Women's Hospital, Boston, MA.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Nita A LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL.
Mary E MaradikCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Elizabeth M McNallyCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.
Emma PerezDepartment of Personalized Medicine, Brigham and Women's Hospital, Boston, MA.
Cynthia A ProwsDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center; University of Cincinnati, Cincinnati, OH.
Gabriel Q ShaibiCenter for Health Promotion and Disease Prevention, Arizona State University, Phoenix, AZ.
Chunhua WengDepartment of Biomedical Informatics, Columbia University, New York, NY.
Robb K RowleyDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD.
Josh F PetersonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
Jodell E LinderVanderbilt Institute of Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN.
Maya SabatelloDepartment of Medicine, Columbia University, New York, NY; Department of Medical Humanities and Ethics, Columbia University, New York, NY.

Funding

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
NHGRI 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

purposeTo investigate the complexities of covering study-recommended medical care costs for individuals (in order to prevent lack of adherence due to financial reasons), which have received little attention.

methodsWe explored the deliberations, decisions, and challenges faced by the Electronic Medical Records and Genomics (eMERGE) Network during the implementation of a genomic research project recommending clinical care based on high-risk results defined largely by polygenic risk scores. Two surveys were disseminated to eMERGE sites: to identify preferences about payment for specific care recommendations (survey 1) and to understand the operational processes of covering medical care costs (survey 2).

resultsPaying for a subset of care recommendations for the funded study duration was identified as the most feasible approach for covering medical care costs for participants who received high-risk genomic results. Each eMERGE site, by necessity, used diverse approaches to pay for medical care costs.

conclusioneMERGE researchers balanced competing concerns about bias, equity, study design, regulatory compliance, and cost in designing a unified approach to cover some of the recommended medical care costs in the study. Many implementation challenges were encountered. Findings can inform researchers and regulatory bodies about the implications and complications of covering medical care costs in translational research studies focused on prevention.

Indexed as

GenomicsHealth Care CostsElectronic Health RecordsHumansGenomic medicineResearch complianceResearch ethicsStudy designTranslational genomics

Identifiers

PMID40391568
PMCPMC12318664

What OpenQuestion holds

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Registered trials

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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.