Common language: Exploring community collaboration in the translation of genetics discoveries
The past several years have seen significant advances in our understanding of the genetics of autism spectrum disorders (ASD). As result, many researchers and companies have begun exploring the possibilities of translating these discoveries into clinical applications, especially those that could help with diagnosis. By detecting and understanding genetic risk factors for autism, it is possible to provide earlier diagnosis and intervention, which typically leads to better outcomes. In addition, it can help identify subgroups within our community, that because of shared risk factors, may benefit from more targeted or specific treatment. Finally, some genetic etiologies are associated with specific medical conditions, such as seizures, cancer, and GI problems. Thus, information about specific genetic etiologies can have significant clinical implications. Using this kind of approach, it may also be possible to identify individuals who are predisposed to particular environmental risk factors and help improve our understanding of the role of gene-environment interactions in autism.
Most importantly, Autism Speaks is interested in encouraging the development of real world solutions that can help families make more informed healthcare decisions and improve their overall quality of life. While it has long been known that autism involves genetic factors and genetic testing is already being conducted for some genetic etiologies, such as Fragile X syndrome, recent studies have identified many other autism risk genes that are not routinely screened for during a diagnostic exam. Including more comprehensive genetic screening could be of real benefit to persons with ASD. However, we recognize that the science is still evolving, and there are many uncertainties and important issues such as ethics and risk communication that must be carefully weighed and considered to maximize potential benefits to individuals as well as families in our community.
In order to better understand the state of the science and opportunities and barriers in translating autism genetics discoveries into diagnostic tests, Autism Speaks and several partners, including the National Institutes of Health (NIH), Canadian Institutes for Health Research (CIHR), and the UK’s Medical Research Council (MRC), organized an educational symposium, “Genetic Risk Factors for Autism Spectrum Disorders: Translating Genetic Discoveries into Diagnostics,” in Toronto, Canada, on September 1-2, 2010. By bringing together a multidisciplinary group of about 80 international experts and stakeholders, including government officials, funding agencies, scientists, clinicians, ethicists, lawyers, biotech companies, parents and self-advocates, the symposium aimed to develop some consensus around two key questions: (1) Is the science ready for translation of genetic findings to clinical diagnostics? And if so, (2) how can the professional and stakeholder communities work best together to ensure that genetic diagnostic testing is a benefit to persons with ASD?
With an audience as diverse as the one at this symposium, a variety of opinions was expected. Some researchers thought this discussion was a bit premature because the science is still evolving and the interpretation of microarray-based clinical genetics findings can be oftentimes be complicated. Others, however, advocated for a cautious but firm push to help families by establishing an authoritative reference database and clarifying regulatory guidelines. Developing guidelines for the use of interpretation of genetic testing is especially important since several companies are already providing genetics testing services for the medical community. The FDA acknowledged the new terrain, but clearly preferred greater oversight to help protect consumers. Medical geneticists and genetic counselors pushed back that more regulations may not be necessary because of the professionals’ well-established track record in helping individuals and families interpret and understand complicated genetic findings. Bioethicists and communications experts left the attendees more appreciative of important non-technical issues that should be a part of any deliberation on the risks and benefits of genetic diagnostics for autism. Parents and self-advocates, while optimistic about the promise of the technology, also highlighted the need to address the implications of this technology on important community issues about identity and choice [Read John Elder Robison’s blog on this topic in Psychology Today].
After a packed and intense one and a half days, including breakout sessions where many vigorous and fascinating discussions ranged from community impact to next generation of diagnostic devices, the participants achieved consensus on several important issues, the details of which will be published via a peer reviewed journal and other dissemination channels in the near future. Suffice to say, while there was a general appreciation for how much work we still need to do, there was also enthusiasm for an opportunity to work together to help individuals and families benefit from the translation of latest genetics discoveries.