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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Ali-Khan SE,Daar AS,Shuman C,Ray PN,Scherer SW

doi

10.1203/PDR.0b013e3181b0cbd8

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

357-63

issue

4

eissn

0031-3998

issn

1530-0447

journal_volume

66

pub_type

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