Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

Abstract

The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments.

Can genetic research motivate parents to pursue genomic testing for children with autism spectrum disorder?

“…The intention of parents within our study to have their children receive testing was found relatively high at 84.3%, which suggests that majority of participants are likely to consider having their ASD-affected child undergo CMA. This number is consistent with existing findings about the level of parent interest toward ASD genetic testing [12,13,21,22,42]. For instance, Vande Wydeven et al [24] found parental interest in utilizing genetic services at 90%.…”

“…Concerning the levels of parent interest, studies have consistently found that supportive attitudes to pursue genetic testing are high [19][20][21][22]. Despite positive perceptions as well as the potentially beneficial outcomes of a genetic diagnosis, actual utilization of CMA among other genetic testing options are reported as being low among parents of children with ASD [13,[22][23][24][25].…”

“…In identifying distinct variants from the control, this reveals mutations that may be related to the development of ASD in the patient [9]. Obtaining a usable genetic diagnosis for autism is suggested to parents of affected children due to the possibility to influence treatment, management, and decision-making for family planning [5,12,13].…”

Provision of Genetic Services for Autism and its Impact on Spanish Families

“…This has also been observed in a study carried out in USA, which showed that genetic testing was often ordered in the absence of the accompanying genetic services (Cuccaro et al 2014). Genetic tests that scan the whole genome, such as CMA or exome analysis, involve a significant amount of complexity and may identify incidental findings, variants of unknown significance and variants of variable expression and incomplete penetrance.…”

“…A study carried out in USA in 2009 reported that only 24% of parents whose child was diagnosed with ASD had seen a genetic counselor (Selkirk et al 2009). More recent studies based also in USA reported similar rates of utilization of genetic services by families of ASD patients, ranging from 20-28% (Amiet et al 2014;Chen et al 2013;Cuccaro et al 2014;Vande Wydeven et al 2012). It was hypothesized that the low utilization rate was mostly due to a lack of referral, possibly related to an extended unawareness of the clinical utility of genetics for ASD among other professionals (Salm et al 2014).…”