Exome reanalysis results in an 8% reclassification rate

•    Overall, 8% of clients ordering a re-analysis received a reclassified report.
•    New test results or new family history details resulted in a significantly higher likelihood of a reclassification. 
•    These data highlight the utility of DES in providing a comprehensive and timely molecular diagnosis with the ability to continually assimilate new information. 
•    The ability to continually reanalyze exome data adds to the economic value of the test compared to traditional testing methods. 
•    The data emphasize the importance of counseling patients about the likelihood of a result reclassification in the future.
 

• Authors: Kelly Farwell Hagman; Meghan Towne; Kelly Radtke; Kirsten Blanco; Jennifer Huang
• Conference: ACMG 2020
• Date: Wednesday, Mar 18, 2020 10:00am - 12:00pm