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Record W4408539896 · doi:10.1016/j.gimo.2025.102406

P563: Adolescents’ experiences and perspectives of genetic testing and its personal utility

2025· article· en· W4408539896 on OpenAlexaff
Daniel Assamad, Stephanie Luca, Elise Poole, Lucie Dupuis, Riyana Babul‐Hirji, Kelsey Kalbfleisch, Rosemarie E. Venier, Bailey Gallinger, Laura Zahavich, Meredith Gillespie, Reem Rafei, S. F. MacDonald, Kelly K. Anderson, Connie Ens, Lauren Chad, Wendy J. Ungar, Tasha Wainstein, Alison M. Elliott, Robin Z. Hayeems

Bibliographic record

VenueGenetics in Medicine Open · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsChildren's Hospital of Eastern OntarioSickKids FoundationHospital for Sick ChildrenBC Children's HospitalUniversity of Toronto
Fundersnot available
KeywordsGenetic testingPsychologyMedicineInternal medicine

Abstract

fetched live from OpenAlex

As genetic testing becomes more widely used in adolescent medicine, the number of teenagers with identified genetic diagnoses continues to increase. These technologies may be particularly useful in children and adolescents since early diagnosis, risk identification and tailored intervention can result in lifelong benefits. The utility of a genetic test broadly refers to its value for patients, families, clinicians, healthcare systems and societies. Personal utility describes the value of a genetic test from the perspective of the patient.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.136
Threshold uncertainty score0.434

Codex and Gemma teacher scores by category

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

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 head0.046
GPT teacher head0.347
Teacher spread0.301 · 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 teacher head, 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".

Quick stats

Citations0
Published2025
Admission routes1
Has abstractyes

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