title: Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders.
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.
authors.affiliation: QURE Healthcare, San Francisco, CA, USA; University of California, San Francisco and Los Angeles, USA.
authors.forename: John
authors.initials: J
authors.lastname: Peabody
authors.affiliation: QURE Healthcare, San Francisco, CA, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: DeMaria
authors.affiliation: QURE Healthcare, San Francisco, CA, USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Tamandong-LaChica
authors.affiliation: QURE Healthcare, San Francisco, CA, USA.
authors.forename: Jhiedon
authors.initials: J
authors.lastname: Florentino
authors.affiliation: QURE Healthcare, San Francisco, CA, USA.
authors.forename: Maria Czarina
authors.initials: MC
authors.lastname: Acelajado
authors.affiliation: QURE Healthcare, San Francisco, CA, USA.
authors.forename: Trever
authors.initials: T
authors.lastname: Burgon
keywords: CPV; evidence-based medicine; genetic testing; medical education; patient vignettes