Evidence map›Paper›PMID 24645908›Full record

Trial reportTrials2014

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Jason L Vassy, Denise M Lautenbach, Heather M McLaughlin, Sek Won Kong, Kurt D Christensen, Joel Krier, Isaac S Kohane, Lindsay Z Feuerman, Jennifer Blumenthal-Barby, J Scott Roberts and 10 more

5 registry-linked trialsOpen access · goldAbstract readComparative StudyRandomized Controlled Trial
In one paragraph

Trial report in Trials, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 5 registered trials, which are not on this map. Cited by 93 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 1 pooled it
18.0field-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.

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
NCT02422511 nacompletednot on this mapstarted 2015, after this paper: background citation

Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)

TypeinterventionalSponsorBrigham and Women's HospitalRan2015 to 2021Enrolled1,205ConditionsHereditary Disease, Genetic Predisposition to DiseaseArmsGenomic sequencing, Family history report
NCT03276637 nacompletednot on this mapstarted 2017, after this paper: background citation

The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

TypeinterventionalSponsorBrigham and Women's HospitalRan2017 to 2020Enrolled105ConditionsHealthy Adults, Genetic Predisposition to DiseaseArmsWhole exome sequencing
NCT04196374 nacompletednot on this mapstarted 2021, after this paper: background citation

Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts

TypeinterventionalSponsorBrigham and Women's HospitalRan2021 to 2025Enrolled7,603ConditionsSeemingly Healthy, Genetic Predisposition to DiseaseArmsGenomic Sequencing
NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

93 citing papers in PubMed, 1 synthesis or guideline pooled it, 134 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Trial
  4. Trial
  5. Trial
  6. Trial
  7. Trial
  8. Trial
  9. Trial
  10. Article
  11. Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026
    Article
  12. Research progress on biomarkers of traumatic brain injury.Animal models and experimental medicine · 2026
    Review
  13. Review
  14. Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.Health education & behavior : the official publication of the Society for Public Health Education · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

33 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

20 authors at 10 institutions in 2 countries.

Jason L Vassy
Denise M Lautenbach
Heather M McLaughlin
Sek Won Kong
Kurt D Christensen
Joel Krier
Isaac S Kohane
Lindsay Z Feuerman
Jennifer Blumenthal-Barby
J Scott Roberts
Lisa Soleymani Lehmann
Carolyn Y Ho
Peter A Ubel
Calum A MacRae
Christine E Seidman
Michael F Murray
Amy L McGuire
Heidi L Rehm
Robert C GreenGenomes2People and Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Broad Institute and Harvard Medical School, 41 Avenue Louis Pasteur, Suite 301, 02115 Boston, MA, USA. rcgreen@genetics.med.harvard.edu.
MedSeq Project
Brigham and Women's Hospital · USHarvard University · USBaylor College of Medicine · USLouis Pasteur Center for Medical Research · JPBroad Institute · USDuke University · USGeisinger Health System · USMass General Brigham · USUniversity of Michigan–Ann Arbor · USVA Boston Healthcare System · US

Funding

HARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Genome Sequence-Based Screening for Childhood Risk and Newborn IllnessU19HD077671 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI BEGGS, ALAN H., GREEN, ROBERT C. · 2013 to 2018
$6.1M
Incidental Finding Preferences in Whole Genome Sequencing: A Randomized TrialF32HG006993 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHRISTENSEN, KURT DEREK · 2012 to 2013
$102k
NCRR NIH HHS UL1 RR025758NCRR NIH HHS UL1RR025758NHGRI NIH HHS F32 HG006993NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01-HG006500NICHD NIH HHS U19 HD077671NIDDK NIH HHS L30 DK089597NIGMS NIH HHS T32 GM007748-34
6 · The paper itself

Abstract

backgroundWhole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care. METHODS/

designThis pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients' genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results. DISCUSSION: The impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only illuminate the impact of integrating genomic medicine into the clinical care of patients but also inform the design of future studies.

trial registrationClinicalTrials.gov identifier NCT01736566.

Indexed as

Genetic CounselingGenome, HumanResearch DesignSequence Analysis, DNAAdolescentAdultAgedAged, 80 and overAttitude of Health PersonnelCardiomyopathiesClinical CompetenceCurriculumEducation, Medical, ContinuingFemaleGenetic Predisposition to DiseaseGenetic Testing

Identifiers

PMID24645908
PMCPMC4113228
OpenAlexW2159997698

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.