Health Care Providers' Perspectives of Uncertainty in Newborn Screening
Bibliographic record
Abstract
There is a paucity of research exploring the issues of uncertainty in the context of newborn screening and metabolic care. This work explores these issues of uncertainty through qualitative description. Semi-structured telephone interviews were conducted with health care providers at specialized metabolic centers across Canada. Data was coded and thematically analyzed. This study found that health care providers experience personal, practical, diagnostic, prognostic, and therapeutic issues of uncertainty when managing the care of patients affected by mild hyperphenylalaninemia (MHP), very long chain acyl CoA dehydrogenase (VLCAD) deficiency, medium chain acyl CoA dehydrogenase (MCAD) deficiency, and partial biotinidase deficiency. Heath care providers described nosological inadequacy as a source of uncertainty when managing 3-methylcrotonyl CoA (3-MCC) deficiency. Participants emphasized caution, while avoiding overmedicalization, when managing medical uncertainty. Providers indicated that greater communication and consensus is required across care centers, which may open a dialogue for a pan-Canadian newborn screening strategy.
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 | 0.023 | 0.036 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.016 | 0.021 |
| Scholarly communication | 0.008 | 0.005 |
| Open science | 0.001 | 0.008 |
| Research integrity | 0.003 | 0.006 |
| 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".