Evidence map›Paper›PMID 33805616›Full record

ArticleJournal of personalized medicine2021

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.

Sabrina A Suckiel, Julianne M O'Daniel, Katherine E Donohue, Katie M Gallagher, Marian J Gilmore, Laura G Hendon, Galen Joseph, Billie R Lianoglou, Jennifer M Mathews, Mary E Norton and 6 more

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

  1. Trial
  2. Trial
  3. Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026
    Article
  4. Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
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  7. Review
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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

16 authors at 8 institutions in 1 country.

Sabrina A SuckielThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0003-3333-7526
Julianne M O'DanielDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0001-5843-4432
Katherine E DonohueThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-7721-8137
Katie M GallagherDepartment of Pediatrics, Children's Hospital at Montefiore, New York, NY 10467, USA.
Marian J GilmoreCenter for Health Research, Department of Translational and Applied Genomics, Kaiser Permanente Northwest, Portland, OR 97227, USA.
Laura G HendonDepartment of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.ORCID 0000-0003-0645-1315
Galen JosephDepartment of Humanities and Social Sciences, University of California, San Francisco, CA 94143, USA.
Billie R LianoglouInstitute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Jennifer M MathewsDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Mary E NortonInstitute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Jacqueline A OdgisThe Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Alexis F PossDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0003-2903-3423
Shannon RegoInstitute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Sarah ScollonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-2017-0245
Tiffany YipInstitute for Human Genetics, University of California, San Francisco, CA 94143, USA.
Laura M AmendolaDivision of Medical Genetics, University of Washington, Seattle, WA 98195, USA.ORCID 0000-0002-5506-6168
University of California, San Francisco · USGenomic Health (United States) · USUniversity of North Carolina at Chapel Hill · USBaylor College of Medicine · USChildren's Hospital at Montefiore · USJackson Memorial Hospital · USKaiser Permanente Center for Health Research · USUniversity of Washington Medical Center · US

Funding

Exome sequencing in Diverse Populations in Colorado & OregonU01HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI LEO, MICHAEL C, WILFOND, BENJAMIN SIMON · 2017 to 2021
$15.7M
NHGRI NIH HHS U01 HG007292, U01 HG007301, U01 HG009599, U01 HG009610, U01 HG006487, U01 HG006485, U24 HG007307
6 · The paper itself

Abstract

Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.

Indexed as

exome sequencinggenetic counselinggenome sequencinggenomic sequencingreturn of resultsunderrepresented populations

Identifiers

PMID33805616
PMCPMC7998798
OpenAlexW3137117982

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.