Why tumor-normal sequencing matters: new data on CHIP detection in liquid biopsy

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Home breadcrumb-arrow Why tumor-normal sequencing matters: new data on CHIP detection in liquid biopsy

Clonal hematopoiesis of indeterminate potential (CHIP) is an increasingly recognized challenge in liquid biopsy analysis. Somatic variants arising in hematopoietic progenitor cells can appear in cell-free DNA (cfDNA) analyses, mimicking tumor-derived signals and complicating result interpretation. Correctly assigning these variants is critical – both to avoid false tumor calls and to capture CHIP's emerging role as an independent biomarker for cancer risk and outcomes.

MSK-ACCESS® powered with SOPHiA DDM™ incorporates matched white blood cell (WBC) DNA sequencing to systematically distinguish CHIP and germline variants from true tumor-derived signals. In this poster presentation, Florian Klemm shares findings from a multicenter, retrospective study evaluating CHIP detection across different cfDNA analysis approaches in individuals with colorectal, prostate, pancreatic, and breast cancer. This research was conducted in collaboration with Synnovis, UK.

Watch to discover:

  • How MSK-ACCESS® powered with SOPHiA DDM™ achieved 97.9% positive percent agreement with orthogonal results.
  • How CHIP assignment differs between cfDNA-only and matched WBC sequencing approaches, despite overall analytical concordance
  • Why matched WBC sequencing is essential for reliable differentiation of CHIP, germline, and somatic variants in precision oncology

Presenter

Florian Klemm, Technical Product Manager Expert Lead, SOPHiA GENETICS, Rolle, Switzerland

Dr. Florian Klemm is a physician-scientist and tumor immunologist with deep expertise in next‑generation sequencing (NGS), liquid biopsy technologies, and translational oncology. As a Technical Product Manager Expert Lead at SOPHiA GENETICS, he drives the product design of decentralized cfDNA NGS solutions. Most notably, he has led the development of MSK‑ACCESS® powered with SOPHiA DDM™ where he led cross‑functional teams spanning assay development, bioinformatics, tertiary annotation, and software.

With more than a decade of research experience across the Ludwig Institute for Cancer Research at the University of Lausanne, Switzerland, Memorial Sloan Kettering Cancer Center, New York, USA and the University of Göttingen, Germany, Florian has an extensive track record applying NGS, multidimensional genomics, spatial tissue analysis, and large‑scale datasets to advance understanding of tumor biology and tumor–immune interactions. His first‑author publication in Cell (2020) highlights his contributions to mapping immune cell states in brain malignancies. He is passionate about bridging clinical insight, high‑throughput technologies, and data‑driven approaches to deliver impactful solutions that improve patient outcomes.

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Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are those of the speakers and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.

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