Scaling Genomic Workflows Across Hematological Malignancies

Large hospitals face a widening gap: guidelines are moving faster than most labs can validate against. And legacy PCR- and FISH-based workflows, however reliable, weren't built to scale to that pace. Prof. Klaus Schmetterer, Head of the Molecular Diagnostics Department, and his team at the Medical University of Vienna, Austria, one of Europe's largest tertiary care centers, are closing that gap.

In this session, Prof. Schmetterer shows how his team unlocked roughly 12 times more genomic coverage, at a comparable cost, without slowing down the turnaround clinicians rely on for treatment decisions. The shift: replacing a patchwork of single-gene and translocation assays with one integrated DNA/RNA NGS workflow, covering 500+ genes and 250+ translocations across both myeloid and lymphoid disease in a single run, powered by automated library preparation and the SOPHiA DDM™ platform's AI-driven variant analysis.

At the conclusion of this session, participants will be able to:

Examine a practical model for scaling genomic testing in hematological malignancies through a single, comprehensive NGS application.
Compare the operational and financial trade-offs of a consolidated workflow against running multiple fragmented assays, without added budget, headcount, or risk.
Recognize how structured documentation support can help laboratory teams meet the EU's IVDR requirements while easing the workload that comes with it.

Presenter

Prof. Klaus Schmetterer, MD, PhD, heads the Cytogenetics Diagnostics section and the Molecular Biology in Hemato-Oncology Diagnostics section within the Department of Laboratory Medicine at the Medical University of Vienna (AKH Wien, Austria), roles he holds since 2022 and 2025 respectively. He also holds a tenure-track position at the university since 2021.

His path into hemato-oncology diagnostics began in immunology: he completed his Master's and PhD research in the laboratory of Winfried Pickl, MD, at the Institute of Immunology, Medical University of Vienna, earning his MD in 2010 and his PhD in Molecular Biology in 2011. He joined the Department of Laboratory Medicine in 2012 for his residency and completed it in 2018 as a board-certified specialist in Laboratory Medicine.

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