Trial reportAmerican journal of human genetics2020
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Trial report in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03211039 (Prenatal Precision Medicine), which is not on this map. Cited by 65 papers, 6 of them syntheses that pooled 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.
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.
Prenatal Precision Medicine (NSIGHT2): A Randomized, Blinded, Prospective Study of the Clinical Utility of Rapid Genomic Sequencing for Infants in the Acute-care Setting
Who cites it
65 citing papers in PubMed, 6 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.Diagnostics (Basel, Switzerland) · 2024Guideline
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.European journal of human genetics : EJHG · 2022Pooled it
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.American journal of human genetics · 2020Trial
- Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review.Journal of genetic counseling · 2026Article
- Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing.Scientific reports · 2026Article
- Provider Perceptions of the Impact of Rapid Whole Genome Sequencing on Care and Management.Research square · 2026Article
- Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.JAMA network open · 2026Article
- Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing.European journal of human genetics : EJHG · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.Clinical genetics · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- Managing the Uncertainty of "Precision" While Navigating Goals of Care: A Framework for Collaborative Interpretation of Complex Genomic Testing Results in Critically-Ill Neonates.Children (Basel, Switzerland) · 2025Article
- Point of Care Testing, Rapid Next Generation Sequencing and Artificial Intelligence in Pediatric and Neonatal Healthcare: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Empowerment of parents of infants with congenital heart disease after rapid genome sequencing : April 11, 2025, revised June 20, 2025.Journal of community genetics · 2025Article
- An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis.Seminars in perinatology · 2025Review
- Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.Neurology. Genetics · 2025Article
5 more citing papers are in PubMed but not listed here.
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 at 4 institutions in 1 country.
Funding
Abstract
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived utility, adequacy of consent, and potential harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs. More than 90% of parents reported feeling adequately informed to consent to diagnostic genomic sequencing. Despite only 23% (27) of 117 infants receiving genomic diagnoses, 97% (156) of 161 parents reported that testing was at least somewhat useful and 50.3% (88/161) reported no decisional regret (median 0, mean 10, range 0-100). Five of 117 families (4.3%) reported harm. Upon follow-up, one (1%) confirmed harm to child and parent related to negative results/no diagnosis, two (2%) reported stress or confusion, and two (2%) denied harm. In 81% (89) of 111 infants, families and clinicians agreed that genomic results were useful. Of the families for whom clinicians perceived harm from genomic testing, no parents reported harm. Positive tests/genomic diagnosis were more frequently perceived to be useful by parents, to benefit their infant, and to help manage potential symptoms (p < .05). In summary, the large majority of parents felt that first-tier, rapid, diagnostic genomic sequencing was beneficial for infants lacking etiologic diagnoses in ICUs. Most parents in this study perceived being adequately informed to consent, understood their child's results, and denied regret or harm from undergoing sequencing.
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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.