ArticleThe Journal of pediatrics2023
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
Article in The Journal of pediatrics, 2023. 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 8 papers.
What it found
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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.
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
8 citing papers in PubMed.
- "It didn't feel like anything unusual because we had already been through so much": Disability-related research experiences of families with children enrolled in the undiagnosed diseases network.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.Journal of community genetics · 2026Article
- According to Which Criteria Should the Undiagnosed Diseases Network's Value Be Assessed?AMA journal of ethics · 2025Article
- Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Incidental genomic findings in large scale research: using the "3-I framework" to reveal policy considerations.Frontiers in genetics · 2025Article
- When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research.Genetics in medicine open · 2025Article
- Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care.The American journal of bioethics : AJOB · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
objectiveTo explore the perspectives of parents of undiagnosed children enrolled in genomic diagnosis research regarding their motivations for enrolling their children, their understanding of the potential burdens and benefits, and the extent to which their experiences ultimately aligned with or diverged from their original expectations. STUDY
designIn-depth interviews were conducted with parents, audio-recorded and transcribed. A structured codebook was applied to each transcript, after which iterative memoing was used to identify themes.
resultsFifty-four parents participated, including 17 (31.5%) whose child received a diagnosis through research. Themes describing parents' expectations and experiences of genomic diagnosis research included (1) the extent to which parents' motivations for participation focused on their hope that it would directly benefit their child, (2) the ways in which parents' frustrations regarding the research process confused the dual clinical and research goals of their participation, and (3) the limited clinical benefits parents ultimately experienced for their children.
conclusionsOur results suggest that parents of undiagnosed children seeking enrollment in genomic diagnosis research are at risk of a form of therapeutic misconception-in this case, diagnostic misconception. These findings indicate the need to examine the processes and procedures associated with this research to communicate appropriately and balance the potential burdens and benefits of study participation.
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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.