Evidence map›Paper›PMID 42180340›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.

Pankhuri Gupta, Min Seon Park, Eric Y Kao, Abbye E McEwen, Runjun D Kumar, Martha Horike-Pyne, Douglas M Fowler, Lea M Starita, Sarah Knerr, Andrew B Stergachis

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Pankhuri GuptaDivision of Medical Genetics, University of Washington, Seattle, WA.
Min Seon ParkInstitute for Public Health Genetics, University of Washington, Seattle, WA, USA.
Eric Y KaoDivision of Medical Genetics, University of Washington, Seattle, WA.
Abbye E McEwenDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.ORCID 0000-0001-7187-7975
Runjun D KumarDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.ORCID 0000-0001-7369-5956
Martha Horike-PyneDivision of Medical Genetics, University of Washington, Seattle, WA.ORCID 0009-0006-5322-3939
Douglas M FowlerDepartment of Genome Sciences, University of Washington, Seattle, WA.ORCID 0000-0001-7614-1713
Lea M StaritaDepartment of Genome Sciences, University of Washington, Seattle, WA.ORCID 0000-0003-2870-5099
Sarah KnerrDepartment of Health Systems and Population Health, University of Washington, Seattle, WA, USA.
Andrew B StergachisDivision of Medical Genetics, University of Washington, Seattle, WA.ORCID 0000-0002-1299-3674

Funding

Advancing the implementation of variant-level functional data into clinical databases and clinical practiceR01HG013025 · NHGRI · UNIVERSITY OF WASHINGTON · PI Lea Starita, Andrew Ben Stergachis · 2023 to 2026
$3.1M
NHGRI NIH HHS R01 HG013025
6 · The paper itself

Abstract

Purpose: Genetic variant reclassification is increasingly common in clinical genomics, yet limited data describe how patients experience re-contact and variant reclassification in routine clinical care. Methods: We conducted semi-structured qualitative interviews with 20 adult patients who received a variant reclassification following routine clinical genetic testing. Interviews explored emotional responses, communication experiences, and perceived value of genetic testing. Data were analyzed using Template Analysis, a form of thematic analysis. Results: Three overarching themes were identified. Participants identified a need for improved communication of reclassified results, particularly with respect to timing, modality, and contextualization (Theme 1). Experiences with reclassification also shaped perceptions of the value of genetic testing, with most participants viewing testing as worthwhile despite its evolving nature (Theme 2). Finally, many participants interpreted reclassification as evidence of personalized and ongoing care, reinforcing trust in genetic testing and biomedical research (Theme 3). Participants generally preferred to be informed of reclassified results regardless of reclassification type, although the direction of reclassification influenced emotional responses and preferred modes of communication. Downgrades from variants of uncertain significance to benign or likely benign were widely viewed as meaningful by participants. Conclusion: Variant reclassification was experienced as a signal of personalized, ongoing care. Timely, contextualized, patient-centered re-contact practices may reduce uncertainty, strengthen trust, and help patients not feel forgotten.

Identifiers

PMID42180340
PMCPMC13193086

What OpenQuestion holds

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LicenceCC BY-ND
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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.