Evidence map›Paper›PMID 30611438›Full record

ReviewMayo Clinic proceedings2019

Reconciling Opportunistic and Population Screening in Clinical Genomics.

Kyle B Brothers, Jason L Vassy, Robert C Green

Abstract readReview
In one paragraph

Review in Mayo Clinic proceedings, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing 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

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

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Observational
  15. Article
  16. Article
  17. Article
  18. Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022
    Review
  19. Article
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors.

Kyle B BrothersDepartment of Pediatrics, University of Louisville School of Medicine, Louisville, KY. Electronic address: kyle.brothers@louisville.edu.
Jason L VassySection of General Internal Medicine, VA Boston Healthcare System, Boston, MA; Division of General Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Robert C GreenDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.

Funding

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
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
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
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 CX001262NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG007307NHGRI NIH HHS UM1 HG007301
6 · The paper itself

Abstract

Opportunistic genomic screening is becoming increasingly common as laboratories adopt recommendations to report secondary genomic findings. In parallel, interest in using genome sequencing as a population screening test has grown rapidly. We consider here 3 potential applications of genome sequencing for preventive medicine: (1) provider-ordered predispositional testing in healthy adults, (2) indication-based testing with opportunistic screening of secondary results, and (3) population screening in the public health context. We conclude that despite superficial similarities, there are important and fundamental differences in the way medical risks and benefits can be addressed in these 3 contexts. Recommendations to report secondary genomic findings should not be interpreted as an endorsement of population genomic screening. Ongoing work is developing the evidence that will be needed to fully justify current and future initiatives in population genomic screening. Ongoing work is developing the evidence that will be needed to fully justify current and future initiatives in population genomic screening.

Indexed as

Public HealthGenetic TestingGenomicsHumansMass Screening

Identifiers

PMID30611438
PMCPMC6339566

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.