domingo, 18 de agosto de 2013

JAMA Network | JAMA | Reporting Genomic Sequencing Results to Ordering Clinicians:  Incidental, but Not Exceptional

JAMA Network | JAMA | Reporting Genomic Sequencing Results to Ordering Clinicians:  Incidental, but Not Exceptional

Reporting Genomic Sequencing Results to Ordering CliniciansIncidental, but Not Exceptional

Robert C. Green, MD, MPH1; James R. Lupski, MD, PhD, DSc2; Leslie G. Biesecker, MD3
JAMA. 2013;310(4):365-366. doi:10.1001/jama.2013.41703.
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Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)?—Yes.
The use of genomic sequencing in medicine is increasing substantially as this technology becomes less expensive and of demonstrated diagnostic utility.12 Potentially clinically relevant incidental findings from clinical exome or genome sequencing (hereafter referred to as genomic sequencing) will arise whenever an individual undergoes genomic sequencing. There is a great deal of controversy regarding how such findings should be addressed by clinical sequencing laboratories because many possible findings are of medical interest and processes for genomic testing and interpretation are not yet standardized. To date, the traditions of genetic testing and reporting have exceptionalized all genetic risk information as potentially dangerous to the well-being of patients. This tradition, in the era of genome sequencing, must be reconsidered.

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