Evidence map›Paper›PMID 26080898›Full record

ArticleClinical genetics2016

Are physicians prepared for whole genome sequencing? a qualitative analysis.

K D Christensen, J L Vassy, L Jamal, L S Lehmann, M J Slashinski, D L Perry, J O Robinson, J Blumenthal-Barby, L Z Feuerman, M F Murray and 3 more

2 registry-linked trialsAbstract read
In one paragraph

Article in Clinical genetics, 2016. 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 83 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed, 7 pooled it
8.9field-weighted citation impact, top 2% 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.

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
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

83 citing papers in PubMed, 7 syntheses or guidelines pooled it, 133 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  4. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Pooled it
  5. Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2018
    Pooled it
  6. Genetics/genomics education for nongenetic health professionals: a systematic literature review.Genetics in medicine : official journal of the American College of Medical Genetics · 2017
    Pooled it
  7. Pooled it
  8. Primary care physician use of patient race and polygenic risk scores in medical decision-making.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Trial
  9. Trial
  10. 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
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  13. Article
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  15. Review
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23 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

13 authors at 5 institutions in 1 country.

K D ChristensenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
J L VassyDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
L JamalCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
L S LehmannDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
M J SlashinskiSchool of Public Health & Health Sciences, University of Massachusetts, Amherst, MA, USA.
D L PerryDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
J O RobinsonCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
J Blumenthal-BarbyCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
L Z FeuermanCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
M F MurrayGenomic Medicine Institute, Geisinger Health System, Danville, PA, USA.
R C GreenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
A L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
MedSeq Project Team
Baylor College of Medicine · USBrigham and Women's Hospital · USHarvard University · USGeisinger Health System · USUniversity of Massachusetts Amherst · US

Funding

Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
Harvard Clinical and Translational Science CenterKL2TR001100 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2013 to 2017
$8.5M
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
Clinical safety and efficacy of pharmacogenetics in Veteran careIK2CX001262 · VA · VA BOSTON HEALTH CARE SYSTEM · PI VASSY, JASON L · 2016 to 2021
–
CSRD VA IK2 CX001262NCATS NIH HHS KL2 TR001100NCATS NIH HHS KL2TR001100NHGRI NIH HHS F32 HG006993NHGRI NIH HHS F32HG006993NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01HG006500NICHD NIH HHS U19 HD077671NICHD NIH HHS U19HD077671
6 · The paper itself

Abstract

Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Data from 11 PCPs and 9 cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results.

Indexed as

Genome, HumanPhysiciansAdultAgedFemaleHumansMaleMiddle AgedMotivationSequence Analysis, DNAgenetic literacyphysicianspreparednessqualitative researchself-efficacywhole genome sequencing

Identifiers

PMID26080898
PMCPMC4683111
OpenAlexW1495834265

What OpenQuestion holds

Textmetadata
LicenceTDM
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.