ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 51 citations in OpenAlex.
- Associations of Patient and Parent Characteristics With Parental Decision Regret in the PICU: A Secondary Analysis of the 2015-2017 Navigate Randomized Comparative Trial.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies · 2024Trial
- 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
- An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis.Seminars in perinatology · 2025Review
- Article
- View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.European journal of human genetics : EJHG · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- The Parent PrU: A measure to assess personal utility of pediatric genomic results.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.Genetics in medicine open · 2024Article
- Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2023Article
- Diagnostic genomic sequencing in critically ill children.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.Children (Basel, Switzerland) · 2023Article
- Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges.Children (Basel, Switzerland) · 2023Article
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.American journal of human genetics · 2023Review
- Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.European journal of human genetics : EJHG · 2022Article
- Co-design, implementation, and evaluation of plain language genomic test reports.NPJ genomic medicine · 2022Article
- 'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning.European journal of human genetics : EJHG · 2022Article
- Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.Journal of personalized medicine · 2022Article
- Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.Journal of paediatrics and child health · 2022Article
- Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA neurology · 2022Review
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
methodsParents of critically unwell children who participated in a national ultrarapid genomic diagnosis program were surveyed >12 weeks after genomic results return. Surveys consisted of custom questions and validated scales, including the Decision Regret Scale and Genomics Outcome Scale.
resultsWith 96 survey invitations sent, the response rate was 57% (n = 55). Most parents reported receiving enough information during pretest (n = 50, 94%) and post-test (n = 44, 83%) counseling. Perceptions varied regarding benefits of testing, however most parents reported no or mild decision regret (n = 45, 82%). The majority of parents (31/52, 60%) were extremely concerned about the condition recurring in future children, regardless of actual or perceived recurrence risk. Parents whose child received a diagnostic result reported higher empowerment.
conclusionThis study provides valuable insight into parental experiences of ultrarapid genomic testing in critically unwell children, including decision regret, empowerment, and post-test reproductive planning, to inform design and delivery of rapid diagnosis programs. The findings suggest considerations for pre- and post-test counseling that may influence parental experiences during the testing process and beyond, such as the importance of realistically conveying the likelihood for clinical and/or personal utility.
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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.