Evidence map›Paper›PMID 40148459›Full record

ArticleEuropean journal of human genetics : EJHG2025

Exploring individuals' experiences with self-reported unmet need for genetic testing.

Kennedy Borle, Larry D Lynd, Jehannine Austin

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

3 authors.

Kennedy BorleInterdisciplinary Studies Program, Faculty of Graduate and Postdoctoral Studies, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0001-5494-075X
Larry D LyndCollaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Centre for Advancing Health Outcomes, Providence Health Research Institute, Vancouver, BC, Canada.ORCID 0000-0002-7622-3919
Jehannine AustinDepartments of Psychiatry & Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada. Jehannine.austin@ubc.ca.ORCID 0000-0003-0338-7055

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In practice, healthcare systems and insurers determine that there is "need" for genetic testing when there is potential for clinical utility. However, it is not currently known how the public understands the need for genetic testing and if this aligns with clinical utility. We recruited participants in Canada through a survey distributed through a market research company (Leger Opinion Panel). Participants who self-reported the need for genetic testing were then purposively sampled to complete a semi-structured virtual interview. We used an interpretive description approach and reflexive thematic analysis. We completed 19 interviews and found that participants' self-identified need for genetic testing was informed by their experiences with genetic information and the perceptions that genetic information is actionable (clinical utility) and has personal meaning (personal utility). Most participants would not be eligible for funded testing based on their personal and family history, however, they had unmet informational and psychological needs, indicating unmet need for genetic counseling. The public understanding of the need for genetic testing is complex and varied. Participants identified many benefits resulting from genetic testing which are not reflected in how need is operationalized in reimbursement decisions, however unmet expectations for testing contributed to medical distrust and dissatisfaction.

Indexed as

Genetic TestingAdultAgedCanadaFemaleGenetic CounselingHumansMaleMiddle AgedSelf Report

Identifiers

PMID40148459
PMCPMC12048476

What Socratic 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 Socratic graph.