WGS is most relevant where comprehensive profiling can consolidate multiple genomic analyses
Applications grouped by maturity: current clinical workflows, emerging clinical use and developing applications.
Used in clinical or validated laboratory workflows
Disease characterisation and genomic classification
AML, MDS, MPN
Single assay resolving defining fusions, copy-number changes and mutations used by current classification.
Structural-variant detection
AML, ALL, MDS
Detects balanced and unbalanced rearrangements without culture, probes or pre-specified targets.
Copy-number assessment
MDS, multiple myeloma
Genome-wide copy-number view in place of targeted probe panels.
Genomic inputs for risk stratification
AML
Supplies the genomic inputs used by current risk models.
Emerging clinical applications
Therapy selection and biomarker identification
AML, ALL, lymphoma
Broad variant discovery feeding treatment and trial decisions currently taken on targeted assays.
Germline-predisposition assessment
AML, MDS
Paired germline analysis alongside somatic profiling.
Longitudinal profiling
AML, MDS, MPN
Repeat genome-wide characterisation at relapse or progression.
Future or developing applications
WGS-supported MRD strategies
AML, ALL, multiple myeloma
Baseline genome may define patient-specific markers subsequently tracked by targeted chemistry.
Routine longitudinal monitoring
AML, MDS, MPN
Scheduled genome-wide reassessment as part of standard follow-up.
Broader companion-diagnostic applications
Hematological malignancies
Genome-derived biomarkers tied to specific therapy decisions.
Invivoscribe implication
The initial opportunity should focus on applications where WGS can consolidate information currently generated across multiple diagnostic methods.
Recommended action
Select the first clinical application based on unmet workflow need, clinical utility and compatibility with Invivoscribe's hematology capabilities.