Evidence map›Paper›PMID 30377384›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.

Maren T Scheuner, Marcia M Russell, Catherine Chanfreau-Coffinier, Jane Peredo, Elizabeth M Yano, Alison B Hamilton, Barbara Lerner, Dawn Provenzale, Sara J Knight, Corrine I Voils

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
1.1field-weighted citation impact, top 19% 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.

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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Research ethics · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
    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

10 authors at 10 institutions in 1 country.

Maren T ScheunerDepartment of Pediatrics, Division of Medical Genetics, University of California-San Francisco, San Francisco, CA, USA. maren.scheuner@ucsf.edu.
Marcia M RussellVA HSR&D Center for the Study of Healthcare Innovation Implementation and Policy, Los Angeles, CA, USA.
Catherine Chanfreau-CoffinierVA HSR&D Center for the Study of Healthcare Innovation Implementation and Policy, Los Angeles, CA, USA.
Jane PeredoVA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
Elizabeth M YanoVA HSR&D Center for the Study of Healthcare Innovation Implementation and Policy, Los Angeles, CA, USA.
Alison B HamiltonVA HSR&D Center for the Study of Healthcare Innovation Implementation and Policy, Los Angeles, CA, USA.
Barbara LernerVA Boston Healthcare System, Boston, MA, USA.
Dawn ProvenzaleVA Cooperative Studies Program Epidemiology Center, Durham, NC, USA.
Sara J KnightVA Salt Lake City Healthcare System, Salt Lake City, UT, USA.
Corrine I VoilsWilliam S. Middleton Memorial Veterans Hospital, Madison, WI, USA.
Duke University · USNeurobehavioral Systems · USUCLA Health · USUniversity of California, Los Angeles · USUniversity of California, San Francisco · USUniversity of Utah · USUniversity of Wisconsin–Madison · USVA Boston Healthcare System · USVA Greater Los Angeles Healthcare System · USVA Salt Lake City Healthcare System · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeRobust evidence about the value of clinical genomic interventions (CGIs), such as genetic/genomic testing or clinical genetic evaluation, is limited. We obtained stakeholders' perspectives on outcomes from CGIs to help inform their value.

methodsWe used an adapted Delphi expert panel process. Two anonymous survey rounds assessed the value of 44 CGI outcomes and whether a third party should pay for them, with discussion in between rounds.

resultsSixty-six panelists responded to the first-round survey and 60 to the second. Policy-makers/payers gave the lowest ratings for value and researchers gave the highest. Patients/consumers had the most uncertainty about value and payment by a third party. Uncertainty about value was observed when evidence of proven health benefit was lacking, potential harms outweighed benefits for reproductive outcomes, and outcomes had only personal utility for individuals or family members. Agreement about outcomes for which a third party should not pay included prevention through surgery with unproven health benefits, establishing ancestry, parental consanguinity, and paternity.

conclusionResearch is needed to understand factors contributing to uncertainty and stakeholder differences about the value of CGI outcomes. Reaching consensus will accelerate the creation of metrics to generate the evidence needed to inform value and guide policies that promote availability, uptake, and coverage of CGIs.

Indexed as

Attitude of Health PersonnelDelphi TechniqueGenetic TestingGenomicsHumansStakeholder ParticipationSurveys and Questionnairesclinical genetic/genomic interventionscoverage and reimbursementhealth-care valuestakeholder viewsthird-party payment

Identifiers

PMID30377384
OpenAlexW2899016831

What OpenQuestion holds

Textmetadata
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.