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Informed Consent and Multiplex Genetic Screening

2010· other· en· W1570117617 on OpenAlexaff
Denise Avard, Eef Harmsen

Bibliographic record

VenueEncyclopedia of Life Sciences · 2010
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsGenome CanadaMcGill University
Fundersnot available
KeywordsMultiplexGenetic testingInformed consentPsychosocialMedicineEngineering ethicsData sciencePsychologyComputer scienceBioinformaticsAlternative medicineBiologyPsychiatryPathologyEngineering

Abstract

fetched live from OpenAlex

Abstract Recent advances in genome‐wide genotyping together with new technologies provide unprecedented opportunities for multiplex screening. These advances provide insight into diseases, hold promises to improve clinical practices to address lifestyle changes, inform reproductive decisions, identify newborns at risk as well as possibly move genetic screening out of the realm of the clinics into direct‐to‐consumer market forces. Advances in multiplex genetic screening raise ethical issues with regard to consent. Some of the concerns that may arise include how to: manage the incidental and excess information; integrate information about susceptibility testing into the clinic, given the complexity of the information; address the psychosocial impact and educate health professionals about the meaning of the results. If multiplex screening is used in genomic research and made available in the clinic, each ethical issue deserves consideration in the consent process and should be discussed. Key concepts: Become aware of new technologies that are being used to expand screening. Understand the distinction between testing and screening. Describe a spectrum of social, ethical issues that are involved in multiplex testing and screening. Know why multiplex screening/testing requires informed consent. Familiarize the reader with the concept of broad consent. Identify the emerging issues relevant to multiplex screening/testing. Consider whether multiplex screening/testing will shift the clinical approach towards a ‘direct‐to‐consumer’ model.

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)0.026
metaresearch head score (Gemma)0.056
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: Other · Consensus signal: Other
Teacher disagreement score0.026
Threshold uncertainty score0.138

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0260.056
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.007
Scholarly communication0.0030.005
Open science0.0010.005
Research integrity0.0050.004
Insufficient payload (model declined to judge)0.0130.002

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 head0.020
GPT teacher head0.295
Teacher spread0.275 · 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
GenreOther

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
Published2010
Admission routes1
Has abstractyes

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