BISInvivoscribe U.S. WGS Services Intelligence DashboardU.S. whole-genome sequencing services in hematological malignancies, 2025–2036
Library

Clinical Use & Adoption

Where whole-genome sequencing is genuinely used in U.S. clinical practice today, and how far adoption sits behind technical capability.

Applications in clinical use

4

Within the current selection

Applications moving toward routine use

4

Emerging or research setting

Laboratory adoption

XX.X%

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Clinician utilisation

XX.X%

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Applications by indication

Clinical role and current intended use.

ApplicationIndicationIntended use
Disease characterisation and genomic classificationAML, MDS, MPNClinical
Structural-variant detectionAML, ALL, MDSClinical
Copy-number change detectionMDS, multiple myelomaClinical
Risk stratificationAMLClinical
Therapy selection and biomarker identificationAML, ALL, lymphomaEmerging
Minimal residual disease (potential application)AML, ALL, multiple myelomaEmerging
Longitudinal monitoring (potential application)AML, MDS, MPNEmerging
Germline predisposition assessmentAML, MDSRUO

Adoption funnel

Technical capability and commercial adoption are separate measures.

  1. 1Analytical capability demonstratedGenome assays report the required alteration classes.
  2. 2Clinical validation completedSingle-centre validated services published.
  3. 3Implemented in routine pathwayLimited to selected laboratories.
  4. 4Reimbursed routine useCoverage conditions remain the constraint.

Capability is demonstrated across the funnel; volume is lost between validated implementation and reimbursed routine use.

Diagnostic workflow

Where WGS sits in the hematological malignancy testing pathway.

  1. Sample collection
  2. Extraction and QC
  3. Library preparation
  4. Sequencing
  5. Bioinformatics
  6. Interpretation and reporting

Modality comparison
6

WGS against targeted NGS, gene panels, PCR, FISH and cytogenetics.

Diagnostic breadthDetectable alterationsTurnaroundInterpretation complexityRole
Whole-genome sequencingGenome-wide, no pre-specified contentSNV, indel, CNV, structural and balanced rearrangementsLonger than targeted assays in published service descriptionsHighest — genome-scale curation and reportingPublished cohorts and validated single-centre servicesComplementary consolidation of cytogenetic and sequencing steps
Targeted NGS panelDefined gene listSNV, indel, selected fusionsEstablished routine turnaroundModerate, well-supported reporting pipelinesRoutine clinical usePrimary sequencing workhorse
Small gene panelNarrow, indication-specificSNV, indelShortLowRoutine clinical useFocused confirmatory testing
PCR / qPCRSingle targetKnown fusions and mutationsShortestLowEstablished standardMonitoring and MRD
FISHProbe-defined lociKnown rearrangements, selected CNVShortLowEstablished standardTargeted cytogenetic confirmation
Karyotype / cytogeneticsWhole-genome at low resolutionBalanced and large unbalanced rearrangementsCulture-dependentSpecialist morphological expertiseEstablished standardReference method in current classification

Clinician and laboratory adoption

Utilisation by end-user group

Data available with full BIS Research access.
Y axis:
Adoption rate
X axis:
Laboratory and clinician group

Clinician acceptance

Dimensions assessed in the research scope.

  • Perceived diagnostic value against existing testing
  • Confidence in structural-variant reporting
  • Expected turnaround for treatment decisions
  • Evidence expectations before routine ordering