Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again

Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 25(2):116-121, Spring 2016

6 Pages Posted: 21 Jul 2016

See all articles by Michael Szego

Michael Szego

University of Toronto, Centre for Bioethics

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy

Date Written: March 26, 2016

Abstract

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.

Keywords: autism spectrum disorder, return of results, whole genome sequencing, database, research ethics

Suggested Citation

Szego, Michael and Zawati, Ma'n H., Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again (March 26, 2016). Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 25(2):116-121, Spring 2016 , Available at SSRN: https://ssrn.com/abstract=2811747

Michael Szego (Contact Author)

University of Toronto, Centre for Bioethics ( email )

Toronto, Ontario M5S 3G8
Canada

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

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