Family History: Effectiveness in Identifying Families at High Risk for Pediatric Onset Cancer Predisposition Syndromes
Bibliographic record
Abstract
Family history is an important screening tool that can highlight features suggestive of a cancer predisposition syndrome (CPS). In collaboration with the McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) project through McGill University and the Genome 4 Kids (G4K) study through St. Jude Children’s Research Hospital, a retrospective analysis of an existing data set of pediatric oncology patients compared aspects of family cancer histories in participants with and without a CPS. MIPOGG is an app that generates a recommendation for or against a genetics referral based on the presence or absence of personal and family history features associated with a high risk for a CPS. Analysis of the features in MIPOGG indicated that personal history features alone were significantly associated with identifying a CPS in participants while family history features alone were not. Although the yield of identifying participants with a CPS using family history features was low, one participant with a CPS was only classified as high-risk for a CPS due to a family history feature. Factors such as a patient’s age and cancer type did not have any clear associations with the degree of relationship or ages of relatives with cancers in a family history. This study highlighted the importance of detailed characterization of personal history features and the low yield of family history as a screening tool for CPSs in the pediatric oncology setting. However, an important subset of pediatric oncology patients with a CPS will only have features concerning for a CPS in their family history; if only personal history features are evaluated, patients such as these may be missed as being at high risk for a CPS. Recognizing the power and limitations of family history as a screening tool for CPS identification can aid in the effectiveness of a healthcare provider’s risk assessment for a CPS at the time of a child’s cancer diagnosis.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.017 | 0.065 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".