Evidence map›Paper›PMID 24625446›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2014

Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.

Stacy W Gray, Yolanda Martins, Lindsay Z Feuerman, Barbara A Bernhardt, Barbara B Biesecker, Kurt D Christensen, Steven Joffe, Christine Rini, David Veenstra, Amy L McGuire and 1 more

Registry-linked trialAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03832985 (Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents), which is not on this map. Cited by 42 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 1 pooled it
–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.

NCT03832985 early_phase1completednot on this mapstarted 2020, after this paper: background citation

Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents

TypeinterventionalSponsorGeisinger ClinicRan2020 to 2024Enrolled162ConditionsHereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial HypercholesterolemiaArmsChild(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result, Adolescents who received adult-onset result, Adolescents who received a pediatric-onset result
3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. Review
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  12. Equity in Genomic Medicine.Annual review of genomics and human genetics · 2022
    Review
  13. Article
  14. Article
  15. Article
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  19. Impacts of personal DNA ancestry testing.Journal of community genetics · 2021
    Article
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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

11 authors.

Stacy W Gray1] Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA [2] Harvard Medical School, Boston, Massachusetts, USA [3] Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Yolanda MartinsDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
Lindsay Z FeuermanCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
Barbara A Bernhardt1] Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Penn Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Barbara B BieseckerSocial and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kurt D Christensen1] Harvard Medical School, Boston, Massachusetts, USA [2] Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Steven JoffeDepartment of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Christine Rini1] University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] UNC Lineberger Comprehensive Cancer Center, Chapel Hill, North Carolina, USA.
David VeenstraDepartment of Pharmacy, Pharmaceutical Outcomes Research and Policy Program, University of Washington, Seattle, Washington, USA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
CSER Consortium Outcomes and Measures Working Group

Funding

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
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
Applying Genomic Sequencing in PediatricsU01HG006546 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2012 to 2016
$10.6M
Interventions in Genetic CounselingZIAHG200317 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, BARBARA BOWLES · 2009 to 2018
$7.6M
The Use of Whole-Exome Sequencing to Guide the Care of Cancer PatientsU01HG006492 · NHGRI · DANA-FARBER CANCER INST · PI JANNE, PASI A, VAN ALLEN, ELIEZER M · 2012 to 2016
$7.3M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI ExperimentR01CA154517 · NCI · MAYO CLINIC ROCHESTER · PI KOENIG, BARBARA A., PETERSEN, GLORIA M. · 2011 to 2015
$2.7M
Innovative Approaches to Returning Results in Exome and Genome Sequencing StudiesR01HG006618 · NHGRI · SEATTLE CHILDREN'S HOSPITAL · PI TABOR, HOLLY K · 2011 to 2013
$2.2M
Impact of return of incidental genetic test results to research participants in tR01HG006600 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, PHELAN, JO C · 2011 to 2013
$2.1M
Filling the data processing gap for exon-region specific data from 1000 GenomesU01HG005211 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2009 to 2012
$1.3M
Intramural NIH HHS Z99 HG999999NCI NIH HHS R01 CA154517NHGRI NIH HHS 1F32HG006993NHGRI NIH HHS 1U01HG005211NHGRI NIH HHS 1U01HG006485NHGRI NIH HHS 1U01HG006487NHGRI NIH HHS 1U01HG006492NHGRI NIH HHS 1U01HG006500NHGRI NIH HHS 1U01HG006507NHGRI NIH HHS 1U01HG006546NHGRI NIH HHS 1U01HG007303NHGRI NIH HHS 1U01HG007307NHGRI NIH HHS 5R01HG006600NHGRI NIH HHS 5R01HG006615NHGRI NIH HHS 5R01HG006618NHGRI NIH HHS 5R21HG006594NHGRI NIH HHS 5R21HG006596NHGRI NIH HHS 5R21HG006612NHGRI NIH HHS 5R21HG006613NHGRI NIH HHS F32 HG006993NHGRI NIH HHS R01 HG006600NHGRI NIH HHS R01 HG006615NHGRI NIH HHS R01 HG006618NHGRI NIH HHS R21 HG006594NHGRI NIH HHS R21 HG006596NHGRI NIH HHS R21 HG006612NHGRI NIH HHS R21 HG006613NHGRI NIH HHS U01 HG005211NHGRI 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 HG007307NIGMS NIH HHS R01 GM109743
6 · The paper itself

Abstract

The routine use of genomic sequencing in clinical medicine has the potential to dramatically alter patient care and medical outcomes. To fully understand the psychosocial and behavioral impact of sequencing integration into clinical practice, it is imperative that we identify the factors that influence sequencing-related decision making and patient outcomes. In an effort to develop a collaborative and conceptually grounded approach to studying sequencing adoption, members of the National Human Genome Research Institute's Clinical Sequencing Exploratory Research Consortium formed the Outcomes and Measures Working Group. Here we highlight the priority areas of investigation and psychosocial and behavioral outcomes identified by the Working Group. We also review some of the anticipated challenges to measurement in social and behavioral research related to genomic sequencing; opportunities for instrument development; and the importance of qualitative, quantitative, and mixed-method approaches. This work represents the early, shared efforts of multiple research teams as we strive to understand individuals' experiences with genomic sequencing. The resulting body of knowledge will guide recommendations for the optimal use of sequencing in clinical practice.

Indexed as

Social BehaviorBehavioral ResearchDecision MakingGenomicsHumansNational Human Genome Research Institute (U.S.)Outcome Assessment, Health CareSequence Analysis, DNATruth DisclosureUnited States

Identifiers

PMID24625446
PMCPMC4163120

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Registered trials

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.