The Simons Simplex Collection is a study to establish a permanent repository of genetic samples from 2000 families, each of which has one child affected with an Autism Spectrum Disorder (ASD). The collection consists of blood samples from the biological parents, one unaffected and affected child, and detailed phenotypic information about the affected child using standardized diagnostic instruments. There are thirteen clinical collection sites throughout the United States and Canada and the samples are stored in a central repository, which scientists may request for use in their own experiments. Although scientists are beginning to utilize this data, central to this database and missing from the discourse on genetics research are the parents and families who participate. This study considers parents who participate in the SSC and what their narratives can tell us about their motivations to be part of a genetic database and the potential ethical implications of participating in genetics research.
The objectives of this research were to identify the various processes by which parents participate in the Simons Simplex Collection. Based on the identification of different “styles of participation," this paper identifies the ethical implications that arise when families of ASD participate in genetics research.
This paper is based on in-depth semi-structured interviews with parents who participated in the SSC (N=15). Each interview lasted from 1-2 hours, was tape recorded, transcribed, and coded for major themes using grounded theory methods.
Expanding on the framework proposed by Haimes & Whong-Barr (2004), who describe the notion of participation and decision-making around genetic databases as a “highly varied social process, with multiple meanings” (p.57), three “styles of participation” were identified in parents who participated in the Simons Simplex Collection: 1) the “active participant” who is willing to help in any way; 2) the “cost/benefit participant” who balances the cost to themselves to the greater collective good; and 3) the “eager participant” who participates based on their need for what is being offered through the study. Based on these various “styles of participation”, which are tied to their motivations to participate, various ethical implications became apparent, including: 1) the lack of knowledge about the SSC study goals and objectives; 2) the vulnerability of parents who need a diagnostic evaluation; 3) the lengthy time to return evaluations and limited follow-up; and 4) the expectations of research, including obtaining genetics research results.
In this study various styles of participation were identified for parents who participated in the Simons Simplex Collection. These styles of participation were tied to their desire to help their child in any way possible, their altruism of helping families in the future, and the need for a diagnostic evaluation. By considering these perspectives, the social and moral contexts within which parents of children diagnosed with an ASD come to participate in genetics research implies a wider concept of engagement and a level of participation that highlight the contextual issues not often considered in current bioethical frameworks.