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Record W4404667592 · doi:10.1136/bmjopen-2024-087023

Development of the Ontario Hereditary Cancer Research Network, a unified registry as a resource for individuals with inherited cancer syndromes: an observational registry creation protocol

2024· article· en· W4404667592 on OpenAlexafffundabout
Kirsten M. Farncombe, Lauren Hughes, Elif Tuzlali, Mohammad R. Akbari, Irene L. Andrulis, Melyssa Aronson, Kathleen Bell, Michelle D. Brazas, Melissa Cable-Cibula, Brandon Chan, Mélanie Courtot, Harriet Feilotter, Katie Lark, Jordan Lerner‐Ellis, Ellen MacDougall, David Malkin, Steven A. Narod, Karen Panabaker, Laszlo Radvanyi, Alison Rusnak, Lincoln Stein, Raymond H. Kim

Bibliographic record

VenueBMJ Open · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsUniversity of OttawaLondon Health Sciences CentreHospital for Sick ChildrenOntario Institute for Cancer ResearchPublic Health OntarioChildren's Hospital of Eastern OntarioGenome CanadaSinai Health SystemPrincess Margaret Cancer CentreLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalUniversity of TorontoToronto General HospitalUniversity Health NetworkQueen's UniversityWomen's College Hospital
FundersFDC FoundationPrincess Margaret Cancer Foundation
KeywordsMedicineCancer registryFamily medicineCancerObservational studyData sharingResearch ethicsCancer preventionHealth services researchAlternative medicinePublic healthPathologyPsychiatry

Abstract

fetched live from OpenAlex

INTRODUCTION: In Canada, care for individuals with hereditary cancer is fragmented across the provinces and territories, with carriers of pathogenic variants in cancer-susceptibility genes seeing multiple doctors and often advocating for their own management plans. The need for a national registry of carriers has been well established. While other cancer consortia exist, barriers in clinical and genomic data sharing limit the utility of the information gathered. METHODS AND ANALYSIS: Within the province of Ontario, the Ontario Hereditary Cancer Research Network (OHCRN), funded by and located at the Ontario Institute for Cancer Research, is being developed to fill this gap. The registry will hold clinical, genomic and self-reported data from consented carriers and will make this data available to qualified researchers in anonymised and aggregated form. Individuals must agree to certain components to participate in OHCRN; there are also optional consents participants can agree to without impacting their involvement in OHCRN. We plan to open the registry for participant enrolment in mid-2025. ETHICS AND DISSEMINATION: Ethics approval for registry creation was obtained from the Ontario Cancer Research Ethics Board, a centralised body that streamlines reviews for cancer research studies in Ontario. Registry data will be disseminated to participants and researchers as aggregate data through the OHCRN website and presented at scientific conferences, made available to Ontario Health (Cancer Care Ontario) to inform policy and evidence-based practice, as well as be available to the scientific community for further analysis and answering relevant questions.

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)0.124
metaresearch head score (Gemma)0.117
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: none
GenreCandidate signal: Protocol · Consensus signal: Protocol
Teacher disagreement score0.772
Threshold uncertainty score0.654

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.1240.117
Meta-epidemiology (narrow)0.0020.004
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0090.010
Science and technology studies0.0060.003
Scholarly communication0.0050.004
Open science0.0060.005
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.0370.010

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 head0.234
GPT teacher head0.480
Teacher spread0.246 · 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
GenreProtocol

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

Citations1
Published2024
Admission routes3
Has abstractyes

Explore more

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