Health care providers’ experiences with genetic testing in patients at risk for hereditary angioedema
Bibliographic record
Abstract
Background: Identification of additional types of hereditary angioedema (HAE) with a normal level of C1 esterase inhibitor has highlighted the role of genetic testing in the diagnosis and management of HAE. Objective: The objective of this study was to assess health care providers' (HCPs') current experiences, practices, and comfort level with genetic testing in patients at risk for HAE. Methods: A self-administered electronic questionnaire targeting HCPs working with HAE was distributed across the United States. The questionnaire consisted of 20 questions divided into sections on demographics, current practices, and perspectives on genetic testing. All statistical analyses were performed using the ordinal logistic regression model. Results: Responses were received from 54 allergist-immunologists representing 25 states. Most respondents (77.8% [21 of 27]) noted that genetic testing is part of their usual diagnostic process for a patient with recurrent angioedema. The majority (92.7% [25 of 27]) believed that genetic testing is probably or definitely helpful in the diagnosis of patients with HAE; however, many HCPs (64% [17 of 27]) noted that they were uncomfortable ordering it. HCPs reported that their top 4 barriers to ordering genetic testing included were insurance, cost, availability of genetic counseling, and knowing which test to order. Conclusions: The study found that HCPs consider genetic testing during a diagnostic workup for HAE; however, many lack confidence in ordering and/or interpreting results. The findings of this study suggest a need for (1) HCP education on the process of genetic testing in HAE; (2) increased collaboration with genetic specialists; and (3) reduction of perceived barriers to genetic testing, such as sponsored testing programs.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 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) | 0.000 | 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 teacher head, 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".