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An international survey on genetics in clinical practice for interstitial lung disease

2021· article· en· W3215949861 on OpenAlexaff
Michelle Terwiel, Raphaël Borie, Bruno Crestani, Liam Galvin, Francesco Bonella, Aurélie Fabre, Antoine Froidure, Matthias Griese, Jan Grutters, Kerri A. Johannson, Caroline Kannengiesser, Leticia Kawano, María Molina‐Molina, Antje Prasse, Elisabeth Renzoni, Jasper van der Smagt, Venerino Poletti, Κατερίνα Αντωνίου, Coline van Moorsel

Bibliographic record

Venuenot available
Typearticle
Languageen
FieldMedicine
TopicInterstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Canadian institutionsUniversity of Calgary
Fundersnot available
KeywordsPulmonologistsMedicinePulmonologistInterstitial lung diseaseGenetic testingFamily medicineIdiopathic pulmonary fibrosisMedical diagnosisMedical geneticsDiseaseIntensive care medicinePathologyInternal medicineLungGenetics

Abstract

fetched live from OpenAlex

Background: Recent advances in medical science have increased our understanding of the role of genetic factors in interstitial lung disease (ILDs), especially in some types of pulmonary fibrosis, but the impact of genetics on clinical practice is unknown. Aims and objectives: We developed a parallel online survey for pulmonologists and ILD patients and their relatives to evaluate current practice, perceptions, and needs regarding genetics in ILD. It was translated in seven languages for patients and relatives. Methods: The survey was built in the secure web application REDCap, and distributed via several patient and physician organizations. The main topics of the survey for pulmonologists were: indication for genetic analysis, informing patients and their relatives, clinical impact, screening relatives, and healthcare impact. For patients and relatives, we included: diagnosis and treatment, familial disease, genetic tests, information, and screening. Several questions were included in both surveys to assess whether pulmonologists and patients and their relatives have overlapping perceptions. Results: The surveys close on 1 March 2021. By now, 295 pulmonologists from 59 countries, and 455 patients and 177 relatives from 21 different countries worldwide responded. Main diagnoses of patients include pulmonary fibrosis and sarcoidosis. Conclusions: The high response from both patients and pulmonologist will yield valuable data. It is anticipated that the surveys provide actionable results to improve patient care.

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 imitation

Not 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.

metaresearch head score (Codex)0.005
metaresearch head score (Gemma)0.014
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.027

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.014
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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.

Opus teacher head0.045
GPT teacher head0.425
Teacher spread0.380 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

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Citations0
Published2021
Admission routes1
Has abstractyes

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