Evidence map›Paper›PMID 28146641›Full record

ArticleGenetic testing and molecular biomarkers2017

Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.

Gabriel Lázaro-Muñoz, John M Conley, Arlene M Davis, Anya E R Prince, R Jean Cadigan

Abstract read
In one paragraph

Article in Genetic testing and molecular biomarkers, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
–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

18 citing papers in PubMed.

  1. Article
  2. Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025
    Article
  3. Article
  4. The New Precision Stewards?Journal of personalized medicine · 2022
    Article
  5. Article
  6. Article
  7. Article
  8. GENETIC DUTIES.William and Mary law review · 2020
    Article
  9. Article
  10. Psychiatric genetics researchers' views on offering return of results to individual participants.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019
    Article
  11. Article
  12. Article
  13. Article
  14. Age and perceived risks and benefits of preventive genomic screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  15. Article
  16. Article
  17. Article
  18. Is Real-Time ELSI Realistic?AJOB empirical bioethics
    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

5 authors.

Gabriel Lázaro-Muñoz1 Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.
John M Conley1 Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.
Arlene M Davis1 Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.
Anya E R Prince1 Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.
R Jean Cadigan1 Center for Genomics and Society, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, North Carolina.

Funding

Center for Genomics and SocietyP50HG004488 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HENDERSON, GAIL E · 2007 to 2017
$12.6M
NHGRI NIH HHS P50 HG004488
6 · The paper itself

Abstract

backgroundAdvances in genomics have led to calls for returning information about medically actionable genes (MAGs) to patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects the harms and benefits of every genetic testing endeavor. Despite published recommendations of selection criteria for MAGs to return, scant data exist regarding how decision makers actually apply such criteria.

methodsThe process and criteria used by researchers when selecting MAGs for a preventive genomic sequencing program targeting the general adult population were examined. The authors observed and audio-recorded the gene selection meetings, and analyzed meeting transcripts, gene scoring sheets, and meeting handouts.

resultsTo select MAGs, the committee imported, from a preexisting project, "a semiquantitative metric" that scores genes on five criteria. Numerous subjective judgments and conceptual challenges in defining and applying the five criteria complicated the selection process. Criteria-related challenges also included the limited evidence available about facts fundamental to the scoring decisions and the emergence and application of criteria that were not part of the original metric.

conclusionsWhen identifying MAGs appropriate for screening and return, decision makers must expect and prepare to address such issues as the inevitability of subjective judgments, limited evidence about fundamental decision-making elements, the conceptual complexity of defining criteria, and the emergence of unplanned criteria during the gene selection process.

Indexed as

Decision MakingDatabases, GeneticGenetic TestingGenomicsHumansgenetic screeningmedically actionable genesreturn of individual results

Identifiers

PMID28146641
PMCPMC5367906

What OpenQuestion holds

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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.