Bibliographic record
Abstract
Introduction: Global prevalence estimates for Huntington Disease (HD) vary widely, and those cited for Canada are outdated and not specific to British Columbia (BC). The most recent incidence calculation was performed in BC and includes diagnoses only up to the year 1999. Reports on the population at risk in Canada are based on theories and estimates that do not pertain to any particular population. Despite the presence of an extensive laboratory and clinical research hub in this province, a comprehensive epidemiological study of the prevalence, incidence and population at risk for HD has never been assessed. As such, the specific objectives of this study were to: 1) Calculate the minimum prevalence of HD in BC on April 1, 2012; 2) Calculate the incidence of HD in BC from January 1, 2001- December 31, 2011; and 3) Calculate the minimum population at risk for HD in BC on April 1, 2012. Methods: A comprehensive province-wide assessment of the HD patient population and the population at risk was conducted using multiple sources of ascertainment including: UBC HD clinic records, hospital and physician records, DNA diagnostic lab reports, the HD research lab at the Centre for Molecular Medicine and Therapeutics (CMMT), nursing homes, The Huntington Society of Canada and HD community members. Results: The minimum prevalence of HD in BC was estimated at 12.5 - 14.9/100,000 (95% CI: 11.5-16.0) (1/8,697 – 1/6,250), the incidence, 7.2 per million/year (95% CI: 6.5-7.9), and the minimum population at risk: 1/1,064 (95% CI: 1/1,941 - 1/2,107). Conclusions: The prevalence of HD is nearly twice as high as suggested by a previous Canadian report. This study comprised the most thorough HD patient ascertainment study since the advent of direct mutation testing and may set a precedent for future prevalence studies. Incidence has remained the same since 1999 and BC is only the fourth region in the world to provide a direct estimate of the population at risk for HD.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.004 | 0.010 |
| Science and technology studies | 0.002 | 0.000 |
| Scholarly communication | 0.002 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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 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".