POS-423 MAINSTREAMING GENETIC TESTING FOR ADULT NEPHROLOGY: A MODEL FOR A PUBLICLY FUNDED HEALTHCARE SYSTEM FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND FOCAL SEGMENTAL GLOMERULOSCLEROSIS
Bibliographic record
Abstract
Advancements in sequencing technology have dramatically improved our understanding of genetic kidney diseases such as polycystic kidney disease (PKD) and focal segmental glomerulosclerosis (FSGS). These tests have broad impacts on clinical care including prognostication, family planning, and transplant status; however, access remains difficult for many patients. Often the bottleneck to testing is the time to be seen by a member of the medical genetics team prior to testing. Our study used a multidisciplinary team of nephrologists, clinical geneticists, and genetic counsellors to create a mainstreamed pathway to accelerate genetic testing for PKD and FSGS, and to determine if these pathways impact patient satisfaction and clinical care.
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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 | 0.012 | 0.025 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.004 | 0.003 |
| Scholarly communication | 0.007 | 0.005 |
| Open science | 0.002 | 0.010 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.016 | 0.002 |
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".