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Record W4225740878 · doi:10.1136/jmedgenet-2021-108238

Practice guidelines for <i>BRCA1/2</i> tumour testing in ovarian cancer

2022· review· en· W4225740878 on OpenAlexaffabout
Daria Grafodatskaya, Darren D. O’Rielly, Karine Bédard, Darci T. Butcher, Christopher J. Howlett, Alice Lytwyn, M. Elizabeth McCready, Jillian S. Parboosingh, Elizabeth Spriggs, Andrea K. Vaags, Tracy Stockley

Bibliographic record

VenueJournal of Medical Genetics · 2022
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsTrillium Health CentreUniversity of ManitobaUniversity Health NetworkShared HealthUniversity of TorontoWestern UniversityUniversité de MontréalUniversity of CalgaryManitoba HealthCentre Hospitalier de l’Université de MontréalAlberta Children's HospitalMemorial University of NewfoundlandMcMaster UniversityHamilton Health SciencesHamilton Regional Laboratory Medicine Program
Fundersnot available
KeywordsGenetic testingCancer geneticsOvarian cancerMedicineClinical PracticeFamily medicineGynecologyMedical educationCancerInternal medicine

Abstract

fetched live from OpenAlex

The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1 and BRCA2 (BRCA1/2) tumour testing in ovarian cancers. This document was drafted by the members of the Canadian College of Medical Geneticists (CCMG) somatic BRCA Ad Hoc Working Group, and representatives from the Canadian Association of Pathologists. The document was circulated to the CCMG members for comment. Following incorporation of feedback, this document has been approved by the CCMG board of directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada; however, they are not inclusive of all information laboratories should consider in the validation and use of NGS for BRCA1/2 tumour testing in ovarian cancers.

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)0.007
metaresearch head score (Gemma)0.013
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.065
Threshold uncertainty score0.129

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.013
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0040.001
Research integrity0.0040.004
Insufficient payload (model declined to judge)0.0060.006

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 head0.180
GPT teacher head0.475
Teacher spread0.295 · 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 designNot applicable
Domainnot available
GenreReview

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

Citations14
Published2022
Admission routes2
Has abstractyes

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Same venueJournal of Medical GeneticsSame topicBRCA gene mutations in cancerFrench-language works237,207