title: Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices.
abstract: Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months. Global developmental delay or intellectual disability in absence of a strong specific etiologic suspicion and autism spectrum disorders were the disorders for which genetic testing was most frequently requested. The most commonly requested genetic test was CGH-array. Overall, child neurologist perception of readiness for making genetic-related decisions was not bad, although many would like to have a greater support from geneticists and were interested in increasing the time dedicated to genetics within their continuing education program. These data have important implications for future practice, research, and education.
authors.affiliation: Department of Pediatrics, Hospital Universitario de Torrejón, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Domínguez-Carral
authors.affiliation: Department of Pediatric Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.
authors.forename: J
authors.initials: J
authors.lastname: López-Pisón
authors.affiliation: Department of Pediatric Neurology, Hospital Universitario Vall d´Hebron, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Macaya
authors.affiliation: Department of Pediatrics, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Bueno Campaña
authors.affiliation: Department of Pediatrics, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: García-Pérez
authors.affiliation: Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. Electronic address: daninatera@hotmail.com.
authors.forename: D
authors.initials: D
authors.lastname: Natera-de Benito
mesh_terms: D002648:Child; D005260:Female; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D000072141:Neurologists / Q000193:education*; D010372:Pediatrics / Q000706:statistics & numerical data; D013030:Spain; D000078329:Workforce
keywords: Etiology; Genetic counseling; Genetic testing; Intellectual disability; Medical education; Pediatric neurology