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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 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)0.006
metaresearch head score (Gemma)0.012
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Qualitative · Consensus signal: Qualitative
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.032

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.012
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0050.005
Scholarly communication0.0060.003
Open science0.0010.005
Research integrity0.0020.007
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 head0.046
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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designQualitative
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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