Evidence map›Paper›PMID 41232198›Full record

ArticleMolecular genetics and metabolism2025

"Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey.

Michelle M Nguyen, Sevil Mahfoozi, Devon Bonner, Daphne O Martschenko, Alisha Giri, Charis Tang, Undiagnosed Diseases Network, Jonathan A Bernstein, Matthew T Wheeler, Meghan C Halley

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 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. Review
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.

Michelle M NguyenStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA.
Sevil MahfooziStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA.
Devon BonnerStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Daphne O MartschenkoStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Alisha GiriStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA.
Charis TangStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA.
Undiagnosed Diseases Network
Jonathan A BernsteinDepartment of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.
Matthew T WheelerCenter for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Meghan C HalleyStanford Center for Biomedical Ethics, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA. Electronic address: mhalley@stanford.edu.

Funding

What comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3M
Center for Undiagnosed Diseases at StanfordU01NS134358 · NINDS · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, HOLLY K TABOR · 2023 to 2026
$3.1M
Surfacing values in the economic evaluation of genomic sequencing for diagnosis of children with rare diseasesK01HG011341 · NHGRI · STANFORD UNIVERSITY · PI HALLEY, MEGHAN · 2021 to 2025
$868k
NHGRI NIH HHS K01 HG011341NHGRI NIH HHS U01 HG010218NINDS NIH HHS U01 NS134358
6 · The paper itself

Abstract

backgroundWell-recognized challenges in rare disease diagnosis include limited awareness of rare diseases among healthcare providers and barriers to accessing genetic testing. Less well understood are the ways in which communication between parents of undiagnosed children and providers may impact access to diagnosis, as well as quality of care broadly. We sought to characterize key dynamics of communication between parents of undiagnosed children and healthcare providers during the diagnostic odyssey.

methodsParents of undiagnosed children undergoing genomic sequencing were recruited from clinical and research settings and Facebook groups. Participants completed up to three sequential, in-depth interviews. Data were analyzed inductively to identify key themes.

resultsParents (n = 36) identified three key dimensions of their experiences communicating with providers during the diagnostic odyssey, including examples of both effective and challenging communication related to: 1) providers' availability and responsiveness; 2) trust and validation of their concerns by providers; and 3) communication across multiple providers. Parents also described employing divergent strategies, such as increased persistence and advocacy, or minimized communication and resignation, in response to challenges.

conclusionsOur study identified ways in which parent-provider communication can facilitate or hinder access to diagnosis and care for children with undiagnosed diseases. However, communication challenges were not universal, suggesting opportunities for intervention. Additional research is needed to identify interventions to improve parent-provider interactions during the diagnostic odyssey and to systematically evaluate the impact on time to diagnosis, access to care and patient health outcomes.

Indexed as

CommunicationHealth PersonnelParentsProfessional-Family RelationsRare DiseasesUndiagnosed DiseasesAdultChildFemaleGenetic TestingHumansMaleMiddle AgedCare coordinationCommunicationGenetics and genomicsRare diseases

Identifiers

PMID41232198
PMCPMC12862594

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.