Evidence map›Paper›PMID 40100039›Full record

ArticlePersonalized medicine2025

How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.

Haoyang Yan, Christine M Rini, Ann Katherine M Foreman, Jonathan S Berg, Gail E Henderson, Kristy Lee, Julianne M O'Daniel, Myra Roche, Margaret Waltz

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Personalized medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

9 authors.

Haoyang YanDepartment of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0001-9195-355X
Christine M RiniDepartment of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0002-3169-3626
Ann Katherine M ForemanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-0293-6609
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0003-2360-2664
Gail E HendersonDepartment of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-4968-7064
Kristy LeeDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-8338-7989
Julianne M O'DanielDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-5843-4432
Myra RocheDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0001-9680-6006
Margaret WaltzDepartment of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-2582-145X

Funding

North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
NHGRI NIH HHS U01 HG006487
6 · The paper itself

Abstract

purposeTo investigate patient reactions to and understanding of secondary genomic findings with limited to no medical actionability (LMA-SFs) from diagnostic genome sequencing.

methodsWe analyzed LMA-SFs returned to 47 adults who elected to receive a broad set of these results from 6 categories. Findings indicated elevated risk (reportable/positive) or not (negative/normal). Most participants (

resultsMost participants received some reportable LMA-SFs for common risk, pharmacogenetic, and carrier status variants. Fewer received reportable

conclusionParticipants' short-term well-being was not reduced by receiving LMA-SFs. Their interpretations suggested varied personal utilities and the need for post-test resources to aid understanding of these types of results and their health significance.

Indexed as

AnxietyGenetic TestingIncidental FindingsPsychological DistressAdultAgedFemaleGenomicsHumansMaleMiddle AgedSurveys and QuestionnairesWhole Genome SequencingYoung AdultELSI (ethical, legal, social issues)genetic counselingGenomicspersonal utilitypharmacogenomicsreturn of genetic resultssecondary findings

Identifiers

PMID40100039
PMCPMC12206488

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.