Qlucore Diagnostics

Qlucore Diagnostics is a CE-marked IVDR software platform offering RNA-seq based cancer diagnostics for clinical laboratories. The first approved model targets Acute Lymphoblastic Leukemia (BCP-ALL), providing both gene expression subtype classification of B-cell leukemias and gene fusion analysis support in a single, integrated workflow. The solution is designed for molecular genetics labs involved in the genetic workup of pediatric patients with suspected or diagnosed BCP-ALL.

Qlucore Diagnostics BCP-ALL is specifically designed for the qualitative determination of clinically relevant genetic markers in bone marrow or peripheral blood samples from pediatric B-cell precursor Acute Lymphoblastic Leukemia patients aged one to eighteen years. It supports RNA-Seq data analysis through machine learning-based classification and gene fusion identification, and is intended to be used in conjunction with the Qlucore Diagnostics Platform software.

Key Benefits

• Enhanced subtype coverage: Machine learning-based subtype classification correctly subtypes an additional 7% of samples using gene expression profiles, enabling detection of DUX4-rearrangements and ETV6::RUNX1-like subtypes, reducing the risk of escalated and expensive treatments.
• Simplified lab workflow: Combines gene expression-based subtyping and gene fusion analysis into a single unified report, streamlining laboratory processes.
• Robustness: Utilizes up to three different gene fusion callers for improved coverage, with gene fusions presented in tiers that include all detected fusions meeting quality criteria.
• Cost-effectiveness: Qlucore Diagnostics can replace FISH tests, delivering significant cost savings to clinical laboratories.
• Future-proof design: Whole Transcriptome Sequencing (WTS) allows all fusions to be clinically annotated, with future updates delivered through software rather than requiring changes to lab workflows.

Genetic Subtype Classification

• Classification is achieved through a machine learning-based classifier that provides probability scores for the following genetic subtypes: BCR::ABL1 or BCR::ABL1-like, DUX4-rearranged, ETV6::RUNX1 or ETV6::RUNX1-like, High hyperdiploidy, KMT2A(MLL)-rearranged, and TCF3::PBX1.
• Gene fusion identification is performed by fusion callers, with identified gene fusions and their breakpoints exported to a clinical report.
• Gene fusions are organized into three tiers based on documented clinical relevance, and all fusions meeting quality criteria are included to provide additional information on novel gene fusions.

Clinical Performance

• Clinical performance was evaluated on a representative sample of the intended population in a multi-site study.
• Genetic subtype classification and gene fusion detection were assessed by comparing Qlucore Diagnostics BCP-ALL outcomes to known patient sample statuses.
• Results were analyzed to produce sensitivity, specificity, percent positive agreement (PPA), and percent negative agreement (PNA) metrics for subtype classification.

Reporting and Output

• The output of Qlucore Diagnostics is a comprehensive PDF report that includes conclusions, results, plots, quality metrics, and method information.
• Visualizations are incorporated into the clinical report to facilitate clear communication between molecular genetics laboratories, clinicians, and patients.

Qlucore Diagnostics is supported by white papers on RNA-sequencing as an emerging clinical diagnostic tool for BCP-ALL, as well as case studies based on real-world use at institutions such as Rigshospitalet in Copenhagen. The platform is CE-marked under IVDR regulations, with regulatory documentation and instructions for use available for clinical laboratory implementation.