Evidence map›Paper›PMID 31313633›Full record

ArticlePersonalized medicine2019

Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.

Joon-Ho Yu, Paul S Appelbaum, Kyle B Brothers, Steven Joffe, Tia L Kauffman, Barbara A Koenig, Anya Er Prince, Sarah Scollon, Susan M Wolf, Barbara A Bernhardt and 2 more

Abstract read
In one paragraph

Article in Personalized medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Parents' perceptions of the utility of genetic testing in the NICU.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
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

12 authors.

Joon-Ho YuDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Paul S AppelbaumDepartment of Psychiatry, Columbia University Medical Center, NY, 10032, USA.
Kyle B BrothersDepartment of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
Steven JoffeDepartment of Medical Ethics & Health Policy, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA.
Tia L KauffmanCenter for Health Research, Kaiser Permanente Northwest, Portland, OR 97227, USA.
Barbara A KoenigProgram in Bioethics, University of California, San Francisco, CA 94143, USA.
Anya Er PrinceCollege of Law, University of Iowa, Iowa City, IA 52242, USA.
Sarah ScollonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Susan M WolfLaw School; Medical School; Consortium on Law & Values in Health, Environment & the Life Sciences, University of Minnesota, Minneapolis, MN 55455, USA.
Barbara A BernhardtDivision of Translational Medicine & Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Benjamin S WilfondDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Transform Dissemination and Implementation Science in CTSA ProgramsUL1TR002319 · NCATS · UNIVERSITY OF WASHINGTON · PI John K. Amory · 2017 to 2026
$100.0M
Institute of Translational Health SciencesUL1TR000423 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$49.4M
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTIN, CHRISTA LESE, REHM, HEIDI L · 2013 to 2020
$26.9M
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
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
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
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
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
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
NCATS NIH HHS UL1 TR000423NCATS NIH HHS UL1 TR002319NCI NIH HHS R01 CA154517NHGRI NIH HHS K99 HG007076NHGRI NIH HHS P20 HG007243NHGRI NIH HHS P50 HG007257NHGRI NIH HHS R00 HG007076NHGRI NIH HHS R01 HG004500NHGRI NIH HHS R01 HG006600NHGRI NIH HHS R01 HG006615NHGRI NIH HHS R01 HG006618NHGRI NIH HHS R01 HG007063NHGRI NIH HHS R01 HG008605NHGRI NIH HHS R21 HG006594NHGRI NIH HHS R21 HG006596NHGRI NIH HHS R21 HG006612NHGRI NIH HHS R21 HG006613NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG006492NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG006546NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG009599NHGRI NIH HHS U41 HG006834NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006508NHGRI NIH HHS UM1 HG007292NHGRI NIH HHS UM1 HG007301NIA NIH HHS U01 AG047109
6 · The paper itself

Abstract

Implementing genome and exome sequencing in clinical practice presents challenges, including obtaining meaningful informed consent. Consent may be challenging due to test limitations such as uncertainties associated with test results and interpretation, complexity created by the potential for additional findings and high patient expectations. We drew on the experiences of research teams within the Clinical Sequencing Exploratory Research (CSER1) Consortium on informed consent for clinical genome and exome sequencing (CGES) to negotiate consensus considerations. We present six considerations for clinicians and 12 key points to communicate as they support patients in deciding whether to undergo CGES. These considerations and key points provide a helpful starting point for informed consent to CGES, grounded in the Clinical Sequencing Exploratory Research (CSER1) experience.

Indexed as

Decision MakingEthics, MedicalExome SequencingGenome, HumanHigh-Throughput Nucleotide SequencingHumansInformed ConsentPractice Guidelines as Topicclinical genome and exome sequencingClinical Sequencing Exploratory Research (CSER1) consortiumdynamic consentELSIinformed consentstaged consent

Identifiers

PMID31313633
PMCPMC6681646

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.