Evidence map›Paper›PMID 36072659›Full record

ArticleFrontiers in genetics2022

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.

Jennifer L Young, Meghan C Halley, Beatriz Anguiano, Liliana Fernandez, Jonathan A Bernstein, Matthew T Wheeler, Holly K Tabor, Undiagnosed Diseases Network Consortium

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% of its field
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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  4. Article
  5. Article
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  7. Review
  8. Article
  9. Review
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  12. Review
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  14. Article
  15. The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023
    Article
  16. 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

8 authors at 2 institutions in 1 country.

Jennifer L YoungStanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
Meghan C HalleyStanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
Beatriz AnguianoHuman Genetics and Genetic Counseling, Stanford University School of Medicine, Stanford, CA, United States.
Liliana FernandezStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, United States.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, United States.
Matthew T WheelerDivision of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, United States.
Holly K TaborStanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, United States.
Undiagnosed Diseases Network Consortium
Stanford University · USNorthwestern University · US

Funding

Stanford Center for Clinical & Translational Education and Research (Spectrum)UL1TR003142 · NCATS · STANFORD UNIVERSITY · PI O'HARA, RUTH M · 2019 to 2023
$45.0M
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
The Stanford Training Program in ELSI ResearchT32HG008953 · NHGRI · STANFORD UNIVERSITY · PI Mildred K. Cho, Meghan Halley · 2016 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
NCATS NIH HHS UL1 TR003142NHGRI NIH HHS K01 HG011341NHGRI NIH HHS T32 HG008953NHGRI NIH HHS U01 HG010218
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

equityexome sequencinggenome sequencingpediatricsrare disease

Identifiers

PMID36072659
PMCPMC9441547
OpenAlexW4292566395

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.