ArticleChildren (Basel, Switzerland)2021
Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.
Article in Children (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Parental experience of whole genome sequencing for children with sensorineural hearing loss.International journal of qualitative studies on health and well-being · 2026Article
- Genetic Counselor Utilization Across Non-Genetics Departments for Neurodevelopmental Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.European journal of human genetics : EJHG · 2026Article
- Social Determinants of Health, the Diagnostic Odyssey, and Genetic Testing for Global Developmental Delay/Intellectual Disability: A Qualitative Study.Research square · 2026Article
- Multiple domains of efficacy define the utility of genetic testing.Pediatric research · 2025Article
- Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.Orphanet journal of rare diseases · 2025Article
- The Role of Online Support, Caregiving, and Gender in Preventative Cancer Genetic Testing Participation: Cross-Sectional Study From a National Study.JMIR cancer · 2025Article
- A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.Communications medicine · 2025Review
- Exploring individuals' experiences with self-reported unmet need for genetic testing.European journal of human genetics : EJHG · 2025Article
- Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.Journal of autism and developmental disorders · 2025Article
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program.Frontiers in genetics · 2025Article
- How does personal utility depend on clinical setting? Evidence from 3 cohorts.Genetics in medicine open · 2025Article
- Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study.Rare (Amsterdam, Netherlands) · 2025Article
- Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric Epilepsy.medRxiv : the preprint server for health sciences · 2024Article
- Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.HGG advances · 2024Article
- Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.Journal of neurology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In genomics, perceived and personal utility have been proposed as constructs of value that include the subjective meanings and uses of genetic testing. Precisely what constitutes these constructs of utility and how they vary by stakeholder perspective remains unresolved. To advance methods for measuring the value of genetic testing in child health, we conducted a scoping review of the literature to characterize utility from the perspective of parents/caregivers. Peer reviewed literature that included empiric findings from parents/caregivers who received genetic test results for an index child and was written in English from 2016-2020 was included. Identified concepts of utility were coded according to Kohler's construct of personal utility. Of 2142 abstracts screened, 33 met inclusion criteria. Studies reflected a range of genetic test types; the majority of testing was pursued for children with developmental or neurodevelopmental concerns. Coding resulted in 15 elements of utility that mapped to Kohler's four domains of personal utility (affective, cognitive, behavioural and social) and one additional medical management domain. An adapted construct of utility for parents/caregivers may enable specific and standardized strategies for researchers to use to generate evidence of the post-test value of genetic testing. In turn, this will contribute to emerging methods for health technology assessment and policy decision making for genomics in child health.
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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.