Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.
Autism spectrum disorder (ASD) is characterized by repetitive patterns of behaviour and impairments in social interactions and communication abilities. Although ASD is a heterogeneous disorder, it is a highly genetic condition for which genetic testing is routinely performed. Microarray analysis is currently the standard of care genetic test for ASD, however whole genome sequencing offers several key advantages and will likely replace microarrays as a frontline genetic test in the near future. The 2nd Consultation on Translation of Genomic Advances into Health Applications took place in the spring of 2014 to broadly explore the current and potential impacts of genomic advances in supporting personalized and family-centered care for autism and related developmental conditions. In anticipation of WGS becoming a standard of care test, we examine the policy landscape and highlight the lack of consistency among guidelines regarding what genomic information should be returned to patients and their families. We also discuss the need to create the infrastructure to share clinical WGS data with researchers in a systematic and ethically defensible manner.
Centre for Clinical Ethics, St. Joseph's Health Centre, Toronto, Ontario; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario; Department of Family and Community Medicine, The Dalla Lana School of Public Health, and The Joint Centre for Bioethics, University of Toronto, Toronto, Ontario.
Michael J
MJ
Szego
Centre of Genomics and Policy, McGill University, Montreal, Quebec.
Ma'n H
MH
Zawati
autism spectrum disorder; database; research ethics; return of results; whole genome sequencing