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LibraryFamily 6 · Genomics & Precision Medicine

AI-assisted tumour-board genomic variant interpretation

Under reviewPilotDeveloping evidence

Undergoing in-depth clinical, technical and governance review.

Synthesises somatic + germline variants from next-generation sequencing into a ranked, evidence-backed recommendation for the multidisciplinary tumour board.

Plain-language summary

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Clinical context
Clinical problem
Discover a research insight
Point of care
Treatment planning
Nature of AI output
A recommendation
Clinical specialty
Oncology
Care setting
Hospital — outpatient
Patient population
Adult oncology patients with tumour-board indication for genomic testing.
Intended use
Synthesises somatic + germline variants from next-generation sequencing into a ranked, evidence-backed recommendation for the multidisciplinary tumour board.
Technology
AI technique
NLP / large language model, Classical machine learning
Input data
Genomic data, Clinical notes / free text
Output type
Recommendation
Autonomy level
Informs a human (advisory)
Model provenance
Vendor proprietary
Model version
insight-1.5
Built on a general-purpose model
Yes
Deployment
Status
Pilot
Country
Sweden
Deployment date
2 April 2025
Sites
1
Regulatory & governance
EU AI Act risk tier
High-risk
High-risk basis
Annex III use case
Medical device
No
EU MDR class
Not a device
CE marking
Not required
FDA status
Not applicable
ISO 14971 risk class
Medium
GDPR processing basis
Consent
GDPR DPIA
Completed
Data identifiability
Pseudonymised
Explainability method
Post-hoc
Human oversight model
Every recommendation is reviewed and approved by the tumour board before being acted on.
NICE evidence standards
ESF tier
Tier C — treat / diagnose / calculate risk
Evidence category
Category 2
Performance summary
Headline metric
AUC / AUROC
Value
0.86
Subgroup performance assessed
Yes
Known bias signals
Genomic reference panels skew toward European ancestry; expansion underway.

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Evidence records

Studies and evaluations attached to this use case.

  • External validation

    Sensitivity: 0.81

    Population: External NGS cohort, 1.2k cases

  • Retrospective validation

    AUC / AUROC: 0.86

    Population: NGS oncology cohort, 2k cases

Contributors

Deploying organisation
[demo] Karolinska University Hospital · Hospital / health system · Sweden
AI vendor
[demo] Paige AI · United States
Product name
Paige Insight