Innovation in Every Strand: Maximizing Clinical Utility with Strategic Test Design

The presentation emphasizes the importance of maximizing clinical utility through strategic test design. This involves a comprehensive approach to developing tests that are both effective and efficient. The presentation also highlights the critical role of gene-disease validity and variant interpretation in genetic testing. Strong evidence is necessary to make clinically meaningful conclusions and determine variant pathogenicity. We will discuss the importance of pipeline and operational efficiencies in genetic testing. This includes optimizing workflows and integrating new tests into existing lab operations while maintaining clinical excellence. Finally, the presentation looks ahead to the potential of long-read sequencing, which offers advantages over short-read sequencing in various applications such as structural variants, methylation testing, and repeat expansion testing.

Level of instruction: Intermediate