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Int J Neuropsychopharmacol. 2013 Aug;16(7):1667-72. doi: 10.1017/S146114571300014X. Epub 2013 Apr 10.

Genomic sequencing for psychiatric disorders: promise and challenge.

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Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.


Whole genome/exome sequencing (WGS/WES) integration into medicine will yield a new disease paradigm moving from clinical to molecular diagnosis. This paradigm will present significant challenges in the interpretation of sequence data and clinicians will face dilemmas about if, when and how to offer information to patients. Sequencing will ultimately reshape psychiatry in predicting disease risk and lead to greater understanding of aetiology, prognosis and/or treatment response. This commentary on the ethics of returning WGS/WES results describes the nature of the data as a dynamic health resource, the importance of understanding participant motivations, determinations of personal utility and potential effects of WGS/WES on self-concept and well-being. As this technology unfurls, ethical challenges will not be novel but they will be compounded by the volume and scope of the data. Research into participant/patient perceptions, preferences and outcomes will identify areas of caution and prepare psychiatrists for eventual integration into clinical care.

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