Exome & General Genetics

Session # 690

Two Approaches to Reclassifying Results from Previously Reported Diagnostic Exome Sequencing

Increased exome and genome sequencing results have led to an increase in publications reporting novel genedisease relationships. These new publications can provide a genetic diagnosis for patients that had previously received negative diagnostic exome sequencing (DES) results. Here we present the results of one lab’s DES reclassification efforts and the benefits and drawbacks of two differing approaches toward reclassification. Overall, 68% of reclassification reports issued are for positive or likely positive findings in a characterized gene, with additional 19% report uncertain findings in a characterized gene. The issuing of reclassification reports increases the overall diagnostic rate from26% to 29% of patients receiving positive or likely positive DES reports.

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