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 insi...

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Bibliographic Details
Published in:European journal of medical genetics 2017-02, Vol.60 (2), p.124-129
Main Authors: Domínguez-Carral, J, López-Pisón, F.J, Macaya, A, Bueno Campaña, M, García-Pérez, M.A, Natera-de Benito, D
Format: Article
Language:English
Subjects:
Child
Etiology
Female
Genetic counseling
Genetic Testing
Health Knowledge, Attitudes, Practice
Humans
Intellectual disability
Male
Medical Education
Neurologists - education
Pediatric neurology
Pediatrics - manpower
Pediatrics - statistics & numerical data
Spain
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2016.11.007