SOGC CLINICAL PRACTICE GUIDELINES Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent
Bibliographic record
Abstract
Objective: To give recommendations to physicians and midwives providing pre-conception or prenatal care about carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. Options: To offer carrier screening for Tay-Sachs disease (TSD) only or to expand the screening to include other disorders known to occur with increased frequency in the Ashkenazi Jewish population. Outcomes: To offer carrier screening to the Ashkenazi Jewish population for conditions in which the benefits to the couple outweigh the risks, which include psychological distress from screening and diagnostic interventions; to minimize practice variation across Canada with respect to carrier screening in individuals of Ashkenazi Jewish descent. Evidence: The MEDLINE database was searched for relevant articles published from January 1966 to December 2004 related to carrier screening and genetic disorders in individuals of Ashkenazi Jewish descent. In addition, Canadian maternal-fetal medicine specialists and medical geneticists were surveyed to determine current practices and opinions. Values: The results of the survey and evidence collected from the MEDLINE search were reviewed by the Prenatal Diagnosis
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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 | 0.005 | 0.028 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.004 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.017 | 0.007 |
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".