DNA Methylation-Based Classification for Central Nervous System Tumours: A Health Technology Assessment.

Area of Science:

• Neurology
• Oncology
• Genomics

Background:

• Central nervous system (CNS) tumours originate from abnormal cell growth in the brain or spinal cord.
• Conventional classification relies on histopathology and molecular markers.
• DNA methylation-based classifier tests are emerging as adjunct tools for CNS tumour classification.

Purpose of the Study:

• To conduct a health technology assessment of DNA methylation-based classifier tests for CNS tumours.
• To evaluate the effectiveness, cost-effectiveness, and budget impact of public funding for these tests.
• To assess the potential impact on patient experience, though preference analysis was not performed.

Main Methods:

• Systematic literature search for clinical evidence and risk of bias assessment (RoBANS).
• Quality of evidence evaluated using Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria.
• Systematic economic literature search and decision-analytic modeling for cost-effectiveness and budget impact analysis (costs in 2024 CAD).

Main Results:

• 38 studies included; DNA methylation tests may improve CNS tumour classification (GRADE: Moderate).
• Evidence on improved downstream patient outcomes and impact on treatment time is very uncertain (GRADE: Very low).
• Second-tier testing for challenging cases estimated at $5,521 ICER, reduced to $2,683 for children (0-14 years); annual budget increase of ~$1 million.

Conclusions:

• DNA methylation classifier tests show potential for improved CNS tumour classification.
• Cost-effectiveness remains undetermined due to lack of willingness-to-pay thresholds.
• Public funding for second-tier testing estimated at $5.4 million over 5 years; first-tier testing estimated at $21 million over 5 years.