European Society of Human Genetics Conference (ESHG)

Save the date and join Roche at the European Society of Human Genetics Conference (ESHG) May 24 - 27, 2025 in Milan, Italy. The meeting will be held in a hybrid format, allowing for in-person and virtual participation in all programming.

Congress Overview

The annual ESHG conference is the major scientific and professional event in human genetics, bringing together European and international geneticists whose field is developing extremely fast with important implications for basic science, medicine and society. 

• Sequencing by expansion (SBX) technology and platform: A revolutionary next-generation sequencing technology offering ultra-rapid, high-throughput capabilities enabling deeper genomic insights with speed and scalability

• AVENIO Edge System - instrument demonstrations in the booth

• KAPA EvoPrep Kit

• KAPA EvoPlus V2 Kit 

• KAPA HyperExome V2 Probes

• KAPA HyperPETE Workflow & Catalog Panels

• KAPA HyperCap Fixed Panels

Sunday,  May 25th, 2025
14:15 - 15:45  CEST

• Fast sequencing workflows are an urgent need in many applications. In this presentation, we will cover two such use cases:

  • Whole genome sequencing in neonatal intensive care units (NICUs) have been shown to improve outcomes for patients,¹ families, and healthcare organizations.

  • We will first cover the recently introduced Sequencing by expansion (SBX) technology that allows for a flexible and fast operation across a range of throughput scales.

  • We will also describe an amplification-free, duplex-based workflow, termed “SBX Fast,” for rapid sequencing applications where timeliness is crucial. SBX Fast links both strands of target DNA in a single sequencing read, producing high-accuracy results and enabling rapid identification of important variants such as InDels, SNVs, SVs, and CNVs.

  • We will also further detail the high-sensitivity variant calling performance for SBX-D using Tumor/Normal FFPE samples and will also show data from a 15-sample, Tissue-aware Minimal Residual Disease (MRD) study that demonstrates detection of MRD as low as 1x10^-6 tumor fraction. Data demonstrating the utility of longer (~1000mer) SBX-simplex reads, with throughput of 1Tbase per sequencing hour will likewise be discussed.

• Next we will present the experience to date at Broad Clinical Labs with the Roche SBX Fast workflow and will demonstrate how this technology and workflow can be practically utilized in testing laboratories in the future to help diagnose critically ill neonates. This will include initial data and results as well as improvements that have been implemented to optimize for reproducible speed and performance.

• We will round off the session with how Bambino Gesù Children's Hospital routinely employs the Avenio Edge System using two distinct approaches. For routine applications, 96 patients are processed weekly, thereby enhancing sequencing throughput and optimizing laboratory human resources. For urgent cases, a 36-hour protocol is implemented to prepare 24 patients, enabling the lab to deliver NGS sequencing data in under a week. This rapid turnaround is critical for personalizing therapies in the treatment of various rare diseases.

Ultra fast whole genome sequencing from sample prep through variant analysis with SBX Fast

Speaker:
Mark Kokoris
Head, SBX Technology, Roche Diagnostics Solutions

Refining the SBX Fast workflow for reproducible speed and performance

Speaker:
Sean Hofherr, PhD, FACMG
Chief of Clinical Strategy and Product Development, Broad Clinical Lab

Utility of Avenio Edge system for diagnosis of pediatric rare disease

Speaker:
Dr. Francesca Romana Lepri
Biologist Manager/Specialization in medical genetics, Bambino Gesù Children's Hospital