Provision of genetic services for autism and its impact on Spanish families

Codina i Solà, Marta, 1988-; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973-; Serra Juhé, Clara, 1984-

doi:http://dx.doi.org/10.1007/s10803-017-3203-4

Provision of genetic services for autism and its impact on Spanish families

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Codina-Solà M, Pérez-Jurado LA, Cuscó I, Serra-Juhé C. Provision of genetic services for autism and its impact on Spanish families. J Autism Dev Disord. 2017 Oct;47(10):2947-56. DOI: 10.1007/s10803-017-3203-4

Abstract

Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.