Evidence map›Paper›PMID 41032346›Full record

ArticleAMA journal of ethics2025

According to Which Criteria Should the Undiagnosed Diseases Network's Value Be Assessed?

Meghan Halley, Holly Tabor

Abstract read
In one paragraph

Article in AMA journal of ethics, 2025. 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

2 authors.

Meghan HalleyAssistant professor of pediatrics at the Stanford Center for Biomedical Ethics at Stanford University School of Medicine in Stanford, California.
Holly TaborDirector of the Stanford Center for Biomedical Ethics and a professor of medicine and of pediatrics (by courtesy) at Stanford University School of Medicine in Stanford, California.

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
The Ethics of Engagement in Patient-Focused Drug Development for Rare DiseasesR01HG014059 · NHGRI · STANFORD UNIVERSITY · PI Meghan Halley · 2025 to 2026
$1.2M
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 R01 HG014059NHGRI NIH HHS U01 HG010218NINDS NIH HHS U01 NS134358
6 · The paper itself

Abstract

The Undiagnosed Diseases Network (UDN) exists at an intersection of diagnostic research and clinical care and has 2 main goals: to advance diagnostic science and to facilitate accurate diagnoses in individual patient-participants with rare conditions or so-called "medical mysteries." The value of the UDN's translational research and clinical application model and of the results it produces derive from whether and to what extent the UDN achieves its 2 goals. This article considers criteria currently used to assess achievement of those goals, identifies their merits and drawbacks, and offers strategies by which the UDN might further advance diagnostic science and individual patient-participants' interests.

Indexed as

Rare DiseasesTranslational Research, BiomedicalUndiagnosed DiseasesHumans

Identifiers

PMID41032346
PMCPMC12818355

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.