ArticleJournal of personalized medicine2022
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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.
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.
Who cites it
5 citing papers in PubMed.
- Adolescent and Young Adult Perspectives on Receiving Pathogenic or Likely Pathogenic Results in a Prospective Genomic Screening Clinical Trial.Public health genomics · 2026Article
- Performance of recommended management among pediatric patients identified through genomic screening.Translational behavioral medicine · 2025Observational
- Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.European journal of human genetics : EJHG · 2024Article
- Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.American journal of human genetics · 2023Article
- Studying the impact of translational genomic research: Lessons from eMERGE.American journal of human genetics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
purposeThe electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogenic/likely pathogenic (P/LP) variants in autosomal dominant conditions with available effective interventions.
methodsThe two eMERGE III pediatric sites collected outcome data and assessed changes in medical management at 6 and 12 months.
resultsWe returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (
conclusionsThe most common outcomes post-RoR included imaging/laboratory testing and health behavior recommendations. A change in healthcare was documented in 77.8% of those receiving results by 6 months. Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations.
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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.