Psychosocial Impact of C282Y Mutation Testing for Hemochromatosis
Bibliographic record
Abstract
The aim of this study was to investigate the psychological effects of genetic testing for hemochromatosis. Study participants included cases discovered through a population screening study in 5211 voluntary blood donors (n = 25) and patients referred for diagnostic evaluation for hemochromatosis (n = 117). Participants completed questionnaires (Spielberger State-Trait Anxiety Index, Medical Outcomes Survey Short Form 36) before and after genetic testing. A subset of participants from the screening study was also interviewed 1 year after testing (Feelings About Test Results Measure). Additional questions included data on insurance applications, time off from work, and family issues. Anxiety significantly decreased in homozygotes and heterozygotes after genetic testing and remained constant in C282Y mutation-negative cases. Vitality and physical composite scores improved after genetic testing. There were no significant deleterious psychological effects of genetic testing on anxiety and on mental and physical health status. There were no negative effects discovered on insurance or time off work. This study has not demonstrated deleterious effects of genetic testing for hemochromatosis on anxiety, mental health and physical health status, insurance, or time off from work. Genetic testing for hemochromatosis is well accepted and should not be discouraged on the basis of potential adverse psychosocial effects.
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 | 0.001 | 0.005 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".