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Record W2004007550 · doi:10.1007/s12687-012-0132-y

Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider

2012· article· en· W2004007550 on OpenAlexafffund
Lee Black, Kelly A. McClellan, Denise Avard, Bartha Maria Knoppers

Bibliographic record

VenueJournal of Community Genetics · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsMcGill UniversityMcGill Genome Centre
FundersCanadian Institutes of Health ResearchCanadian Breast Cancer Research Alliance
KeywordsBreast cancerGenetic counselingGenetic testingMedicineFamily medicineDiseaseGynecologyCancerGeneticsPathologyBiology

Abstract

fetched live from OpenAlex

The primary goal of breast and ovarian cancer screening is to minimize the cases of advanced disease and therefore its mortality rate. For hereditary breast and ovarian cancer, one method to reach this goal is to disseminate genetic risk information among family members. However, experience tells us that this information does not always reach family members in a timely manner, if at all. There are many moving parts to a decision to disclose genetic risk information within a family, and the lack of detail and cohesion in current guidelines do a disservice to hereditary breast cancer prevention. Utilizing legal, medical, and policy databases for literature, case law and policy documents relating to communication of genetic test results within families, as well as a consultative process with representative stakeholders, a points to consider has been developed to address a number of issues that might impact the ability and willingness of patients to inform family members of genetic risk. These include: what is "genetic information"; who is the "family"; why should patients inform their family members; and how should health professionals be involved in this process? This represents only an initial step towards fostering better communication within families. Additional research is needed to determine the best methods for encouraging this communication and motivations for disclosing or not and to promote the development of a solution, considering the complexity of human relationships and the probabilistic nature of genetic information.

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)0.047
metaresearch head score (Gemma)0.098
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: Empirical · Consensus signal: none
Teacher disagreement score0.047
Threshold uncertainty score0.249

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0470.098
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0030.002
Science and technology studies0.0060.006
Scholarly communication0.0100.010
Open science0.0020.005
Research integrity0.0080.006
Insufficient payload (model declined to judge)0.0060.001

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 head0.023
GPT teacher head0.314
Teacher spread0.291 · 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
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

Citations34
Published2012
Admission routes2
Has abstractyes

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