Evidence map›Paper›PMID 31400517›Full record

Trial reportContemporary clinical trials2019

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

Xin Niu, Laura M Amendola, Ragan Hart, Caroline S Bennette, Patrick Heagerty, Martha Horike-Pyne, Susan B Trinidad, Elisabeth A Rosenthal, Bryan Comstock, Chris Nefcy and 15 more

Abstract readRandomized Controlled Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Contemporary clinical trials, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing 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.

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

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

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. 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

25 authors.

Xin NiuDepartment of Epidemiology, University of Washington, Seattle, WA 98195, USA.
Laura M AmendolaDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Ragan HartDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Caroline S BennetteFlatiron Health, New York, NY 10010, USA.
Patrick HeagertyDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Martha Horike-PyneDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Susan B TrinidadDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Elisabeth A RosenthalDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Bryan ComstockDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Chris NefcyDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Fuki M HisamaDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Robin L BennettDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
William M GradyClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98101, USA.
Carlos J GallegoDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; Comparative Health Outcomes, Economics and Policy Institute (CHOICE), University of Washington, Seattle, WA 98195, USA.
Peter Tarczy-HornochDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Wylie BurkeDepartment of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Dean A RegierCanadian Centre for Applied Research in Cancer Control, BC Cancer Agency, Vancouver, BC V5Z 1L3, Canada.
Michael O DorschnerDepartment of Pathology, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Brian H ShirtsDepartment of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
Peggy D RobertsonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Donald L PatrickDepartment of Health Services, University of Washington, Seattle, WA 98195, USA.
Gail P JarvikDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
David L VeenstraComparative Health Outcomes, Economics and Policy Institute (CHOICE), University of Washington, Seattle, WA 98195, USA. Electronic address: veenstra@uw.edu.

Funding

Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
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
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
UW Patient-Centered Outcomes Research Career Development Program (K12)K12HS021686 · AHRQ · UNIVERSITY OF WASHINGTON · PI SULLIVAN, SEAN D · 2012 to 2013
$902k
AHRQ HHS K12 HS021686NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U24 HG007307
6 · The paper itself

Abstract

backgroundClinical exome sequencing (CES) provides the advantage of assessing genetic variation across the human exome compared to a traditional stepwise diagnostic approach or multi-gene panels. Comparative effectiveness research methods offer an approach to better understand the patient-centered and economic outcomes of CES. PURPOSE: To evaluate CES compared to usual care (UC) in the diagnostic work-up of inherited colorectal cancer/polyposis (CRCP) in a randomized controlled trial (RCT).

methodsThe primary outcome was clinical sensitivity for the diagnosis of inherited CRCP; secondary outcomes included psychosocial outcomes, family communication, and healthcare resource utilization. Participants were surveyed 2 and 4 weeks after results return and at 3-month intervals up to 1 year.

resultsEvolving outcome measures and standard of care presented critical challenges. The majority of participants in the UC arm received multi-gene panels [94.73%]. Rates of genetic findings supporting the diagnosis of hereditary CRCP were 7.5% [7/93] vs. 5.4% [5/93] in the CES and UC arms, respectively (P = 0.28). Differences in privacy concerns after receiving CRCP results were identified (0.88 in UC vs 0.38 in CES, P = 0.05); however, healthcare resource utilization, family communication and psychosocial outcomes were similar between the two arms. More participants with positive results (17.7%) intended to change their life insurance 1  month after the first return visit compared to participants returned a variant of uncertain significance (9.1%) or negative result (4.8%) (P = 0.09).

conclusionOur results suggest that CES provides similar clinical benefits to multi-gene panels in the diagnosis of hereditary CRCP.

Indexed as

Adenomatous Polyposis ColiAgedColorectal NeoplasmsCommunicationComparative Effectiveness ResearchConfidentialityCost-Benefit AnalysisExomeFemaleGenetic Predisposition to DiseaseHealth ResourcesHealth ServicesHumansMaleMiddle AgedResearch DesignClinical exome sequencingComparative effectivenessHereditary colorectal cancer/polyposis

Identifiers

PMID31400517
PMCPMC6741782

What OpenQuestion holds

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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.