Expecting the unexpected: incidental and secondary findings in genetic testing, by Linda Reis, MS, CGC
Linda Reis, MS, CGC, Medical College of Wisconsin
https://www.mcw.edu/departments/pediatrics/divisions/developmental-biology/research/semina-laboratory
Description
"Expecting the unexpected: incidental and secondary findings in genetic testing, by Linda Reis, MS, CGC"
The use of next generation sequencing, through panel, exome, and/or genome testing is often the most efficient method to identify causative variants in genetically heterogeneous ocular disorders. However, broad testing can reveal unexpected results. Conversely, exome sequencing for other indications may identify an incidental diagnosis of an unrecognized ocular condition. This presentation will review the range of incidental and secondary findings or unexpected diagnoses that may be returned from clinical testing.