Autism, a severe neurodevelopmental disorder affecting thousands of Canadians, is characterized by impairments in social- communication and by a preference for repetitive activities. Although it is generally agreed that a strong genetic basis underlies the condition, the causes of autism are still unknown.
According to Stephen Scherer, senior scientist in the Department of Genetics and Genomic Biology at SickKids Hospital, it will be extremely valuable to characterize the human genome in search of autism susceptibility genes, and the mechanisms governing their action. Scherer is project leader of the Autism Genome Project, an unprecedented initiative bringing together many of the leading geneticists, clinicians and genome scientists undertaking autism research in Canada, and linking to 170 other scientists from 10 other countries world wide.
This project will screen the genomes from over 6000 members of 1600 families to find where susceptibility genes reside along the chromosomes. Advanced genomic methods will then be used to assess the DNA in these chromosome regions in order to identify disease-associated genes. This project will incorporate genetic information about autism into health care delivery and policy development, and eventually lead to new and more accurate diagnostic tests.
Integrated GE3LS Research: The communication of genomics research results to research participants
GE3LS Project Leaders: Fiona Miller, University of Toronto
Genomic research on the autism spectrum disorders (ASD) raises a number of social and ethical issues. These include issues in human subjects research more generally, and in the ethics of research on a medically and social complex child-onset disorder more specifically.
Most of our research has concerned the issue of communicating genetic research results to research participants. Recent commentaries argue that researchers bear an obligation to report genetic research findings to study participants. Others contend that while the principles of respect for persons, reciprocity, and beneficence indeed apply to the research context, they may neither be well served if results are disclosed nor denied if they are not disclosed. This issue is particularly challenging in the context of autism genomics, given the intensity of the relationship between researchers and the participant community, the complexity of the scientific information generated, and the multifaceted ways in which this information may be interpreted and used by research participants and families. The communication of genetic research results also bears on issues of health and social service delivery, and the extent to which research can or should serve a compensatory function.
We have pursued research on these issues through a review of relevant sub-national, national and supra-national policy guidance, and a set of qualitative interviews with researchers and research participants. We are currently mounting a survey of ASD genomics researchers using an experimental design, to understand the myriad factors influencing professional judgments regarding the disclosure of genetic research results.
Miller, F.A.; Giacomini, M.; Ahern, C.; Robert, J.S.; de Laat, S. 2008. When research seems like clinical care: A qualitative study of the communication of cancer genetic research results. BMC Medical Ethics, Vol 9: 4.
Miller, F.A.; Giacomini, M.; Robert, J.S.; Christensen, R. 2008. Duty to disclose what? Querying the putative obligation to return research results to participants. Journal of Medical Ethics, Vol 34: 210-213.