An Exploration of Families' Motivations for Participating in Genetic Research for Autism

Background:   In recent years, there has been an expansion in research focused on uncovering the underlying biological and genetic causes of autism. This research depends on the willingness of families with autism to participate; thus, there is a duty to ensure that participants’ needs are met throughout this process.

Objectives:   The purpose of this study is to explore families’ motivations for participating in genetic research for autism, and the expectations that participants place on actual or hypothetical genetic information. In doing so, we hope to inform researchers about participants’ needs and concerns, and to gauge whether or not their expectations are in line with those of researchers and are being met.

Methods:   We utilized a qualitative approach to explore participants’ experiences with genetic research for autism. We conducted semi-structured interviews with 9 parents who have one or more children with autism enrolled in genetic research through the Autism Research Unit at the Hospital for Sick Children in Toronto, Canada. Sampling was purposeful for variability across four dimensions: 1) Long-standing versus recent involvement in genetic research, 2) one versus more children with ASD in the family, 3) severity of the diagnosis on the autism spectrum, and 4) whether or not families have received genetic results from the research study. Respondents also completed a validated questionnaire that gauges tolerance for ambiguity as a general personality trait. Ambiguity may have particular relevance for individuals participating in genetic research since results can be marked with vague, inconsistent, incomplete, probable, or unclear meanings and prognoses.

Results:   Motives for participating were classified as benefitting ‘self’ or ‘others’, although these were not mutually exclusive. Interestingly, while respondents discussed their interest in obtaining a genetic research result, they also valued aspects of participation that were distinct from this. Information in general helped maximize certainty and provided a sense of control over their current situation. A pattern emerged where the values placed on the act of participating in genetic research for autism were distinct from the values placed on having genetic information. The former was seen as beneficial for forming a connection with autism experts, networking with other families with autism and providing hope, while the latter alleviates feelings of guilt, raises awareness and validates the medical nature of autism. A separate area of discussion was respondents’ expectations of how they would to be able to use genetic information. With advances in technology, this has evolved from being simply informative to hoping to tailor interventions to an individual child’s genetic ‘brand’ of autism and for family planning purposes. 

Conclusions:   The results of this study highlight the complex factors involved in the decision to participate in genetic research for autism and the value of genetic information. It provides points to consider in order to ensure that research participants are treated respectfully, that their expectations are addressed properly, and that their needs for care throughout this process are met.