A57 THE USE AND INTERPRETATION OF HLA-DQ2/DQ8 GENOTYPING BY PEDIATRIC GASTROENTEROLOGISTS
Bibliographic record
Abstract
Abstract Background A recent classification of high and low risk alleles associated with celiac disease (CD) shows that the presence of a single allele (DQA1*05 or DQB1*02; coding together for HLA-DQ2), without a positive genotype (HLA-DQ2 and or HLA-DQ8), represents a risk of developing the disease. Aims The aim of this study is to evaluate the use and interpretation of the HLA-DQ2/DQ8 genotyping by pediatric gastroenterologists, as there is no study on the matter and the latest guidelines do not address this risk classification. Methods A web-based survey was sent by email to all NASPGHAN (North American society of pediatric gastroenterolgy, hepatology and nutrition) members. Results Results 294 pediatric gastroenterologists sent a complete survey. 86,1% use the HLA-DQ2/DQ8 genotyping according mainly to the NASPGHAN and ESPGHAN guidelines. The main indications considered were to exclude CD in a patient on a gluten-free diet with a resolution of his symptoms and in a seronegative patient with equivocal biopsies. A minority would consider the genotyping for screening high risk groups or for making a diagnosis in children with high specific CD antibodies and strong clinical suspicion without performing biopsies, as suggested by the ESPGHAN guidelines. The alleles associated with CD are not well known, but 76,7% the participants are aware of the risk classification. While only 62,8% have access to the complete genotype, 47,8% consider it useful. Nevertheless, 82,6% would still want to know the presence of a low risk allele. Conclusions The risk classification of alleles related to CD warrants a modification of the genotyping result with access to the alleles and an adaptation of the guidelines. Funding Agencies None
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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 | 0.009 | 0.033 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 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".