Personal utility of genomic sequencing for infants with congenital deafness

Author(s):  
Erin Tutty ◽  
David J. Amor ◽  
Anna Jarmolowicz ◽  
Kate Paton ◽  
Lilian Downie
2013 ◽  
Vol 16 (7) ◽  
pp. 1667-1672 ◽  
Author(s):  
Barbara Bowles Biesecker ◽  
Holly Landrum Peay

Abstract 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.


1971 ◽  
Vol 4 (2) ◽  
pp. 431-443
Author(s):  
LaVonne Bergstrom ◽  
Janet Stewart

2021 ◽  
Vol 41 (1) ◽  
pp. 71-79
Author(s):  
RYUTARO UCHI ◽  
RINA JIROMARU ◽  
RYUJI YASUMATSU ◽  
HIDETAKA YAMAMOTO ◽  
TAKAHIRO HONGO ◽  
...  

2015 ◽  
Vol 10 (10) ◽  
pp. 419-425 ◽  
Author(s):  
Emma Schwager ◽  
Chengwei Luo ◽  
Curtis Huttenhower ◽  
Xochitl C. Morgan

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