ArticleGlobal pediatric health2015
Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders.
Article in Global pediatric health, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Trial
- Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.Autism research : official journal of the International Society for Autism Research · 2026Article
- AI in variant analysis: fast track to genetic diagnoses.Human genetics · 2026Review
- Fertility Rates Among Women With Intellectual and Developmental Disability Enrolled in Medicaid and/or Medicare, 2011-2022.Paediatric and perinatal epidemiology · 2026Article
- Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.American journal of medical genetics. Part A · 2025Article
- Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.Orphanet journal of rare diseases · 2024Article
- Developing a community-based model of care for venipuncture in children and young adults with an intellectual disability: a retrospective study.BMJ paediatrics open · 2024Observational
- Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review.World journal of psychiatry · 2023Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- A structured genetics rotation for pediatric residents: an important educational opportunity.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Establishing Clinical Utility for Diagnostic Tests Using a Randomized Controlled, Virtual Patient Trial Design.Diagnostics (Basel, Switzerland) · 2019Article
- Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2019Article
- Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.Molecular diagnosis & therapy · 2018Article
- Utilization of genetic testing among children with developmental disabilities in the United States.The application of clinical genetics · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients.
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