Evidence map›Paper›PMID 41353565›Full record

ArticleHGG advances2026

Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study.

Sabrina A Suckiel, Laura Golfinopoulos, Courtney L Scherr, Brenna M Boyd, Wendy K Chung, Hakon Hakonarson, Ingrid A Holm, Iftikhar J Kullo, Nita A Limdi, Michael F Murray and 6 more

Abstract read
In one paragraph

Article in HGG advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Trial
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

16 authors.

Sabrina A SuckielInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laura GolfinopoulosInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Courtney L ScherrDepartment of Communication Studies, Northwestern University, Evanston, IL, USA.
Brenna M BoydDepartment of Pediatrics, Division of Molecular Genetics, Columbia University Irving Medical Center, New York, NY, USA.
Wendy K ChungDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Divisions of Human Genetics and Pulmonary Medicine, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Iftikhar J KulloDivision of Cardiovascular Medicine and the Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
Nita A LimdiDepartment of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Michael F MurrayInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Melanie F MyersCollege of Medicine, University of Cincinnati, Cincinnati, OH, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Cynthia A ProwsDivisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Maya SabatelloCenter for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, New York, NY, USA.
Georgia L WiesnerDepartment of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Noura S Abul-HusnInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 23andMe Research Institute, Palo Alto, CA, USA. Electronic address: noura.abul-husn@mssm.edu.

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
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
NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG011176
6 · The paper itself

Abstract

Clinical interest in polygenic (PRS) and integrated (PRS plus clinical factors) risk scores (IRS) is growing, yet little data exist on how healthcare providers navigate returning these results to patients. The eMERGE IV study implemented a genome-informed risk assessment for 11 common complex conditions, incorporating PRS, IRS, and monogenic findings, offering an opportunity to examine providers' experiences disclosing these results. We used a cross-sectional survey with closed- and open-ended questions to assess result disclosure experiences. All study providers involved in disclosing high-risk results were invited to participate. Of 21 respondents, 86% were female and the mean age was 35 years. Most were genetic counselors (76%), followed by pharmacists (10%), research coordinators (10%), and a nurse/nurse practitioner (5%). Confidence in disclosing high-risk results was highest for monogenic (92% extremely/very confident), followed by PRS (78%) and IRS (69%). Most rated disclosures as slightly/moderately complex (77% monogenic, 89% PRS, 69% IRS). Breast cancer (69%) and obesity (39%) were rated as the most challenging conditions to disclose. Key considerations when delivering PRS/IRS included clarifying clinical meaning, clear communication of risk, and acknowledging limitations. Challenges involved ensuring patient understanding, confusion over care recommendations, and PRS complexity. Concerns reflected both personal and perceived patient views, including PRS validity, interpretation of relative risk, and healthcare impact. Study findings provide early insights into result disclosure practices for different types of genomic risk and conditions, which can inform training, resources, and clinical integration of these emerging genomic tools.

Indexed as

Genetic Predisposition to DiseaseHealth PersonnelMultifactorial InheritanceAdultCross-Sectional StudiesFemaleGenetic CounselingGenetic TestingHumansMaleMiddle AgedRisk AssessmentSurveys and Questionnairesclinical communicationeMERGE IV studygenetic counselingintegrated risk scoresIRSmonogenic findingspolygenic risk scoresPRSresult disclosurerisk communication

Identifiers

PMID41353565
PMCPMC12799777

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.