Advancing Technologies and Methods can Redefine How and When to Capture Genetic Risk in Mendelian Disorders

Session Description: Despite advances in clinical genetic testing, including exome sequencing, more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. There is no clear guidance on the next best steps after inconclusive evaluation. This breakout session will bring together three experts to share their insights on rare disease diagnostic approaches, including long-read sequencing, structural variants and DNA methylation episignature analysis. Following the presentations, the panel will engage in a discussion on the next steps after inconclusive molecular testing. Panelists will address potential reasons for negative clinical genetic evaluations, discuss important questions to ask in such situations, and provide a framework for further investigation. Additionally, the speakers will discuss the advantages and disadvantages of new and emerging diagnostic approaches that are yet to be fully integrated into the clinical practice.

If this session topic is of interest to you, please consider looking at the following course on AMP EDucation (AMPED™ Online)

Title: Beyond Reference Genomes: Population-scale Analysis of Genomes with Long Reads
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