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.1,2 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.
Green RC, Lupski JR, Biesecker LG. Reporting Genomic Sequencing Results to Ordering CliniciansIncidental, but Not Exceptional. JAMA. 2013;310(4):365-366. doi:10.1001/jama.2013.41703