Evidence map›Paper›PMID 30193136›Full record

ArticleAmerican journal of human genetics2018

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Laura M Amendola, Jonathan S Berg, Carol R Horowitz, Frank Angelo, Jeannette T Bensen, Barbara B Biesecker, Leslie G Biesecker, Gregory M Cooper, Kelly East, Kelly Filipski and 29 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
112citing papers in PubMed, 1 pooled it
13.0field-weighted citation impact, top 1% 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

112 citing papers in PubMed, 1 synthesis or guideline pooled it, 164 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Trial
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  5. Trial
  6. Trial
  7. Article
  8. Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Optimizing participant and community engagement in cancer genomic sequencing research.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Article

52 more citing papers are in PubMed but not listed here.

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

39 authors at 17 institutions in 1 country.

Laura M AmendolaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Carol R HorowitzCenter for Health Equity and Community Engaged Research, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Frank AngeloDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Jeannette T BensenDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Barbara B BieseckerResearch Triangle Institute, International, Washington DC 20005, USA.
Leslie G BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kelly EastHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kelly FilipskiNational Cancer Institute, National Institutes of Health, Bethesda, MD 20850, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Bruce D GelbDepartments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Katrina A B GoddardCenter for Health Research, Kaiser Permanente Northwest, Portland, OR 97227, USA.
Benyam HailuNational Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD 20892, USA.
Ragan HartDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Kristen Hassmiller-LichDepartment of Health Policy and Management, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Galen JosephDepartment of Anthropology, History & Social Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA 94143, USA.
Eimear E KennyDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Barbara A KoenigProgram in Bioethics, Institute for Health and Aging, University of California-San Francisco, San Francisco, CA 94118, USA.
Sara KnightDivision of Preventive Medicine, University of Alabama at Birmingham, and Birmingham VA Medical Center, Birmingham, AL 35294, USA.
Pui-Yan KwokInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
Katie L LewisMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Mary E NortonDepartment of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA 94143, USA.
Jeffrey OuDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Donald W ParsonsTexas Children's Cancer Center and Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Bradford C PowellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Neil RischInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
Mimsie RobinsonBethel Gospel Assembly, New York, NY 10035, USA.
Christine RiniDepartment of Biomedical Research, John Theurer Cancer Center, Hackensack University Medical Center, Hackensack, NJ 07601, USA.
Sarah ScollonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Anne M SlavotinekDepartment of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.
David L VeenstraDepartment of Pharmacy, University of Washington, Seattle, WA 98195, USA.
Melissa P WassersteinChildren's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Benjamin S WilfondDepartment of Pediatrics and Seattle Children's Research Institute, University of Washington, Seattle, WA 98195, USA.
Lucia A HindorffDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
CSER consortium
Sharon E PlonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Gail P JarvikDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: gjarvik@medicine.washington.edu.
University of California, San Francisco · USUniversity of North Carolina at Chapel Hill · USUniversity of Washington Medical Center · USBaylor College of Medicine · USIcahn School of Medicine at Mount Sinai · USNational Human Genome Research Institute · USUniversity of Washington · USHudsonAlpha Institute for Biotechnology · USNational Institutes of Health · USAlbert Einstein College of Medicine · USBethel University · USChildren's Cancer Center · USHackensack University Medical Center · USKaiser Permanente Center for Health Research · USRTI International · USSeattle Children's Hospital · USUniversity of Alabama at Birmingham · US

Funding

UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3M
North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
University of Washington Biomedical Informatics and Data Science Research Training ProgramT15LM007442 · NLM · UNIVERSITY OF WASHINGTON · PI JOHN H. GENNARI, Andrea L. Hartzler · 2002 to 2026
$19.6M
Incorporating genomics into the clinical care of diverse NYC childrenU01HG009610 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D, HOROWITZ, CAROL R · 2017 to 2021
$17.0M
Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
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
Genomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5M
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9M
Interventions in Genetic CounselingZIAHG200317 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, BARBARA BOWLES · 2009 to 2018
$7.6M
Evolving Our Partnership: The CSER2 Centralized Support Coordinating CenterU24HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI FULLERTON, STEPHANIE MALIA, JARVIK, GAIL PAIRITZ · 2017 to 2021
$5.8M
Pacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4M
Intramural NIH HHS ZIA HG200387NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG007292NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG009599NHGRI NIH HHS U01 HG009610NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U24 HG007307NIEHS NIH HHS P30 ES010126NLM NIH HHS T15 LM007442
6 · The paper itself

Abstract

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.

Indexed as

AdultCost-Benefit AnalysisDelivery of Health CareEuropeExomeGenome, HumanGenomicsHumansNational Human Genome Research Institute (U.S.)PhenotypeUnited StatesWhole Genome Sequencing

Identifiers

PMID30193136
PMCPMC6128306
OpenAlexW2891925439

What OpenQuestion holds

Textmetadata
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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.