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

According to data gathered from 130 parents with a child with ASD living in Catalonia, Spain, genetic services are clearly underutilized. Our data are similar to those previously reported in other Western countries. (Mercer et al. 2006; Selkirk et al. 2009; Vande Wydeven et al. 2012). 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). To our knowledge, only one study assessing utilization of genetic services has been carried out in Europe, specifically in France, reporting a utilization rate of 60%, significantly higher than in USA and Spain (Amiet et al. 2014). This disparity might be partly explained by the differences in health care systems between USA and France (Amiet et al. 2014). However, in Spain like in France, there universal health coverage by the Public Health Service including genetic testing if required. Therefore, additional factors such as the disparity among countries in the regulation of genetic professions and the different awareness among other professionals involved in the care of ASD patients might explain the difference. In France, genetics was recognized as a medical specialty in 1995 and the Law of Public Health legally recognizes genetic counselors as health professionals since 2004, whereas such formal regulation does not exist in Spain. This lack of regulation could also have an impact on the awareness of such services of other professionals and the general population, including affected families. In fact, only 22% of the respondents in our study knew about the professional role of the clinical geneticist and an even lower figure (8%) about genetic counselors.

The underutilization of genetic services may result in several potentially harmful consequences for families. First, several identifiable genetic causes may be missed by the current approach. It is estimated that a genetic diagnosis may be reached in 30% of cases when patients undergo a clinical evaluation and the first tier test, CMA. In our cohort, only 30% of patients had been visited in a genetics service and barely 13% underwent CMA. Consequently, several families with an identifiable genetic alteration may have been missed and could not benefit from specific recurrence risks and associated reproductive options to minimize their risk in future pregnancies.

Second, in our study a large fraction of genetic tests was requested outside a genetic service and probably without appropriate prior genetic counseling. 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. The complex genetic landscape of ASD makes these scenarios even more difficult to manage and require multidisciplinary teams with expertise in the field. Moreover, with the advent of whole exome sequencing, genetic testing options are likely to increase and so will do its associated complexity. Consequently, a correct interpretation of the results along with the proper communication to families will become even more important. If such results are not properly communicated, they may result in parents misunderstanding of the role of genetics in ASD.

Third, inaccurate information regarding the influence of genetics in ASD may also have an effect in family planning. Previous studies have shown that reproductive stoppage, the trend for parents to have fewer children after the diagnosis of a condition, is frequent in families with children with ASD (Grønborg et al. 2015; Hoffmann et al. 2014; Wood et al. 2015). In fact, 62% of the parents of our study admitted that the risk of recurrence had an effect on their family planning. When asked about what reasons were influencing family planning, the main reason for parents who felt recurrence risk had an effect on family planning was “fear of having an affected child”. This is in consonance with other studies showing that a great majority (90%) of individuals who wanted more children felt that recurrence risk had significantly affected their decision for family planning (Selkirk et al. 2009). Participants in our study also had a highly inaccurate risk perception, since most parents estimated their recurrence risk at 50% (Chen et al. 2014; Selkirk et al. 2009). Moreover, parents who felt their risk had affected their reproductive decisions, tended to perceive it as high than those who did not, suggesting that for parents with lower risk perception, recurrence risk does not play such an important part in family planning decisions. Of course, recurrence risk perception is not the sole factor influencing family planning, since parents caring of a child with ASD also experience higher levels of stress, even compared to those with children with other developmental needs (Keenan et al. 2016; Schieve et al. 2007). Anyway, our data suggests that recurrence risk perception plays an important role in parents’ decisions.

Accordingly, parents should clearly benefit from discussing recurrence risk with trained professionals such as genetic counselors and/or clinical geneticists, given that their reproductive decisions may change after receiving appropriate risk figures. Indeed, parents who had been counseled by either a clinical geneticist or a genetic counselor had more accurate risk perception, lower than those who were not counseled. Moreover, significant differences in knowledge were also observed between families who had or had not visited a genetic service. Those who had visited a genetic service obtained a higher mean punctuation (0.5 points on a total scale of 4), showing that they had received more comprehensive information. Therefore, genetic testing and counseling may be useful for parents, especially if offered at the right time. In order to explore whether the low access to genetic services previously discussed was due to parental disinterest or to other factors such as lack of referral, we asked parents about their interest in being seen by a genetics provider. An overwhelming majority (95%) answered favorably, including participants who had already been visited, and half of parents in our study (47%) believed that genetic factors were one of the main causes of ASD, similar to previous studies conducted in Western countries (Mercer et al. 2006; Selkirk et al. 2009).

This is the first study evaluating genetics perception among parents of children affected with ASD conducted in Spain. Since participants were recruited through parental associations and participation was voluntary, our sample may be biased, although most likely towards more informed families. In addition, although we excluded families with known causes from recurrence risk perception analysis, our figures could be slightly overestimated, since some of the participants may have refused to share their genetic test results. Despite these limitations, we believe this work adds to the body of research in a country where no similar studies had been conducted before, and significant efforts have still to be made to translate genetic research into clinical practice.

In conclusion, the results of this study show a clear underutilization of genetic services among families of children with ASD in Spain, despite their widespread view that genetics is one of the major causative factors and their interest in genetic testing. Most patients did not have access to the recommended tiered diagnostic approach that may reach a diagnosis in up to one-third of cases, a fraction that is expected to increase with the widespread clinical implementation of exome and genome sequencing. This lack of service provision may have some negative effects on clinical follow-up and more clearly on family planning. An important fraction of patients and families would benefit from achieving a molecular diagnosis and, if not reached, all would benefit from appropriate genetic counseling with empiric information about recurrence risk. Underutilization of genetic services has also been reported in other Western countries, such as the USA and to a less degree in France (Amiet et al. 2014). It is a responsibility for Health Authorities and the genetics community to ensure that all families with ASD can have access genetic services. Measures to improve the awareness of the role and relevance of genetics in ASD should addressed to both the general population and other health professionals involved in the care of these patients, which might contribute to increase referral rates to genetic services. In addition, other measures are required to minimize disparities between countries. In Spain, there is also still a need for the establishment of formal training programs and the legal regulation and recognition of the genetic professions.