Abstract 1206: The molecular characterization initiative: Nationwide comprehensive clinical profiling of pediatric solid tissue malignancies at scale
Bibliographic record
Abstract
Abstract The Molecular Characterization Initiative is an NCI-sponsored program being conducted in collaboration with the Children’s Oncology Group (COG), that seeks to enroll cancer patients from ages 0-25 with a primary diagnosis of a CNS malignancy, soft-tissue sarcoma, rare cancer or high-risk neuroblastoma onto Project Every Child. Subsequent to enrollment, the submission of a disease-involved specimen (cancer) and matched comparator normal (blood or buccal) is subjected to DNA and RNA (tumor) or DNA (normal) extraction by the Biopathology Center, followed by comprehensive clinical molecular profiling at The Institute for Genomic Medicine. To-date, over 4100 patients from 27 states in the United States, from Canada, Australia and New Zealand have been enrolled and studied since project inception in March 2022. Each patient sample set is evaluated by comparative tumor:normal exome analysis, fusion/ITD panel testing of RNA and by DNA methylation profiling, with return of results within 21 days from receipt of specimens at Nationwide Children’s Hospital. Subsequent to return of clinical results, each patient’s data are de-identified and submitted to the Childhood Cancer Database, a public repository managed by the NCI. The data in this repository are publicly available, with institutional sign-off, for the purposes of fueling future discoveries impacting pediatric cancer. The size and scope of the Molecular Characterization Initiative will be equivalent to or greater than other large-scale clinical profiling efforts conducted in Germany (INFORM) and in Australia (Zero Childhood Cancer). The current status and unique results from the MCI will be presented, along with future plans and ongoing challenges. Citation Format: Elaine R. Mardis, On behalf of The Institute for Genomic Medicine at Nationwide Children's Hospital. The molecular characterization initiative: Nationwide comprehensive clinical profiling of pediatric solid tissue malignancies at scale [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 1206.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".