Evidence map›Paper›PMID 24814192›Full record

ArticleAmerican journal of human genetics2014

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego and 18 more

2 registry-linked trialsAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 246 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
246citing papers in PubMed, 4 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.

NCT01736566 nacompletednot on this map

The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine

TypeinterventionalSponsorBrigham and Women's HospitalRan2011 to 2021Enrolled213ConditionsHealthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated CardiomyopathyArmsFamily History + Whole Genome Sequencing, Family History Only
NCT03421327 completednot on this mapstarted 2017, after this paper: background citation

Genetic Risk: Whether, When, and How to Tell Adolescents

TypeobservationalSponsorJohns Hopkins UniversityRan2017 to 2018Enrolled85ConditionsHuntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
3 · Its place in the literature

Who cites it

246 citing papers in PubMed, 4 syntheses or guidelines pooled it.

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186 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

28 authors.

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: pair@u.washington.edu.
Laura M AmendolaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Jonathan S BergUniversity of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Kyle BrothersHudson Alpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40292, USA.
Ellen W ClaytonDepartment of Pediatrics and the Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN 37204, USA.
Wendy ChungColumbia University, New York, NY 10032, USA.
Barbara J EvansUniversity of Houston Law Center, Houston, TX 77204, USA.
James P EvansUniversity of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Carlos J GallegoDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Nanibaa' A GarrisonDepartment of Pediatrics and the Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN 37204, USA.
Stacy W GrayBrigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02138, USA; Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Iftikhar J KulloDivision of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.
Lisa Soleymani LehmannBrigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02138, USA.
Cathy McCartyEssentia Institute of Rural Health, Duluth, MN 55805, USA.
Cynthia A ProwsDivisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Heidi L RehmBrigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02138, USA.
Richard R SharpBiomedical Ethics Program, Mayo Clinic, Rochester, MN 55905, USA.
Joseph SalamaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Saskia SandersonDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Sara L Van DriestDepartment of Pediatrics and the Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN 37204, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
Susan M WolfLaw School, Medical School, and Consortium on Law and Values in Health, Environment, & the Life Sciences, Minneapolis, University of Minnesota, Minneapolis, MN 55455, USA.
Wendy A WolfDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
eMERGE Act-ROR Committee and CERC Committee
CSER Act-ROR Working Group
Wylie BurkeDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.

Funding

LCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E., KISSELA, BRETT M · 2015 to 2024
$37.5M
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
Mount Sinai Institutes for Clinical and Translational SciencesUL1TR000067 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SAMPSON, HUGH A · 2012 to 2014
$16.5M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
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
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
Cincinnati Center for Clinical and Translational Sciences and TrainingUL1TR000077 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E., TSEVAT, JOEL · 2012 to 2014
$9.9M
Genomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5M
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
Vanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3M
Genomic Medicine Pilot For Hypertension And Kidney Disease In Primary CareU01HG007278 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HOROWITZ, CAROL R · 2013 to 2018
$5.7M
NCATS NIH HHS UL1 TR000067NCATS NIH HHS UL1 TR000077NCATS NIH HHS UL1 TR001425NCI NIH HHS 1R01CA154517NCI NIH HHS R01 CA154517NHGRI NIH HHS R01 HG004500NHGRI NIH HHS R01 HG006615NHGRI NIH HHS R21HG00612NHGRI NIH HHS U01 HG004603NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01HG006382NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG006492NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01HG006500NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01HG006507NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01HG006828NHGRI NIH HHS U01 HG007278NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01HG007307NHGRI NIH HHS U01HG04603NHGRI NIH HHS UM1 HG007301PHS HHS U01 G006492
6 · The paper itself

Abstract

As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research. CSER and eMERGE committees have identified areas of consensus regarding the return of genomic results to research participants. In most circumstances, if results meet an actionability threshold for return and the research participant has consented to return, genomic results, along with referral for appropriate clinical follow-up, should be offered to participants. However, participants have a right to decline the receipt of genomic results, even when doing so might be viewed as a threat to the participants' health. Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results. These positions are consistent with the recognition that clinical research is distinct from medical care in both its aims and its guiding moral principles.

Indexed as

Societies, ScientificBiomedical ResearchDisclosureGenetic PrivacyGenetics, MedicalGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansPatient Access to RecordsPopulation Groups

Identifiers

PMID24814192
PMCPMC4121476

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.