title: Whole genome scanning: resolving clinical diagnosis and management amidst complex data.
abstract: Momentum around the era of genomic medicine is building, and with it, anticipation of the benefits that whole genome analysis (personalized or individualized genomics) will bring for the provision of health care. These technologies have the potential to revolutionize genetic diagnosis; however, the expansive data generated can lead to complex or unexpected findings, sometimes complicating clinical utility and patient benefit. Here, we use our experience with whole genome scanning microarrays, an early instance of whole genome analysis already in clinical use, to highlight fundamental challenges raised by these technologies and to discuss their medical, ethical, legal and social implications. We discuss issues that physicians and healthcare professionals will face, in particular, as the resolution of testing further increases toward full genome sequence determination. We emphasize that addressing these issues now, and starting to evolve our healthcare systems in response, will be pivotal in avoiding harms and realizing the promise of these new technologies.
authors.affiliation: McLaughlin-Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Ali-Khan
authors.forename: Abdallah S
authors.initials: AS
authors.lastname: Daar
authors.forename: Cheryl
authors.initials: C
authors.lastname: Shuman
authors.forename: Peter N
authors.initials: PN
authors.lastname: Ray
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
mesh_terms: D003937:Diagnosis, Differential; D005820:Genetic Testing; D005826:Genetics, Medical; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*