Autism Genomics Research Is Not Only about Autism Genomics: A Qualitative Study of Parent Participants

Background:  Autism genomics research aims to understand the genetic underpinnings of a complex phenotypic spectrum.  The nature of the developmental and behavioral challenges with which families contend coupled with barriers to specialized care in many jurisdictions, further complicates the role of research for the community it engages.  

Objectives:  In light of the putative obligation to report genetic research results to individual study participants, we sought to understand researchers’ and participants’ experiences with and expectations of autism genomics research in general.  Herein we report on the experiences of parent participants.

Methods:  We conducted a qualitative study in 2006 and 2007 with researchers and research participants involved in autism genomics research. We report on data from 4 focus groups with 34 parents of minor or adult children with autism spectrum disorders (12 mothers, 4 fathers, 9 couples) who were participants in and recruited through relevant research groups in Southern Ontario.  We also conducted 23 semi-structured interviews with parents (18 mothers, 1 father, 3 couples) recruited through the same research groups, and a Canadian autism advocacy organization. Discussions explored respondents’ motivations for participating in autism genomic research and expectations about receiving genetic research results and other types of information through research participation.  Interviews averaged 1 hour, focus groups 2 hours; each was tape-recorded, transcribed verbatim and entered into a qualitative database.  We analyzed coded sections of each transcript in which parents discussed motivations for participating in and expectations of genomic research in autism, seeking to identify thematically coherent interpretations of parents’ experiences.  We achieved qualitative saturation both across and within transcripts.  We used an iterative and constant comparative analytic method with a reflexive approach to data interpretation to guide our understanding of the data.  

Results: Parents expressed feeling motivated to participate in autism genomics research because they anticipated that valuable scientific knowledge would emerge, they trusted the researcher(s), and they hoped, albeit modestly, for knowledge relevant to their own child’s health.  Parents valued researchers’ commitment to reciprocity in the form of aggregate data presented through newsletters and workshops.  In addition, parents attributed value to ‘meaningful’ individualized genetic results.  Beyond the potential to gain aggregated or individualized genetic insights, many parents viewed research as a mechanism for mobilizing diagnostic and therapeutic support, as well as general advocacy, for their child(ren).

Conclusions: Parents value individually-relevant knowledge and clinical services that may not be specific to genetic etiology, but may be difficult to obtain outside the context of autism genomics research.  From an ethics perspective, while a beneficence impulse is well-suited to clinical care, invoking this impulse in the context of research with an at-times under-served population warrants caution.  From a research governance and health care policy perspective, these data expose a tension between the financing and delivery of health care and health research.