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Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice

2006· article· en· W2104181205 on OpenAlexaff
Daryl Pullman, Kathy Hodgkinson

Bibliographic record

VenueClinical Genetics · 2006
Typearticle
Languageen
FieldMedicine
TopicEthics and Legal Issues in Pediatric Healthcare
Canadian institutionsMemorial University of Newfoundland
FundersNature
KeywordsAmbiguityGenetic counselingDutyContext (archaeology)Genetic testingGenetic dataClinical PracticeDuty to warnResearch ethicsClinical researchPsychologyEngineering ethicsMedicineConfidentialityPolitical scienceComputer scienceFamily medicineLawGeneticsBiologyPathologyPsychiatryPopulation

Abstract

fetched live from OpenAlex

Despite a rapidly expanding literature on the issue of duty to warn at-risk relatives in the context of clinical genetic testing, little has been written on parallel issues with regard to the management of genetic research results. Some might view this lack as an indication that there is little to discuss in this regard. That is, standard practice is that data obtained through medical research should not be treated as though they are clinically relevant, and this standard should hold for genetic research as well. This paper challenges this conclusion and its underlying assumptions. We argue that the line between genetic research and clinical practice is often ambiguous. In some cases, research data gathered from a very small number of subjects could have immediate clinical implications. Hence, it is unethical for genetic researchers to absolve themselves of clinical responsibilities for research subjects and/or their families, on the grounds that the data were obtained for research purposes. Indeed, we argue that it could well be unethical to embark on some forms of genetic research unless advance arrangements have been made for genetic counseling and clinical follow-up. Furthermore, in some cases, it might be unethical to enroll subjects in studies if the subjects are unwilling to receive their individual results.

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)0.132
metaresearch head score (Gemma)0.182
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.132
Threshold uncertainty score0.700

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.1320.182
Meta-epidemiology (narrow)0.0000.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0030.002
Science and technology studies0.0140.158
Scholarly communication0.0190.024
Open science0.0040.018
Research integrity0.0220.022
Insufficient payload (model declined to judge)0.0030.001

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 head0.276
GPT teacher head0.599
Teacher spread0.322 · 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 designTheoretical or conceptual
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

Citations47
Published2006
Admission routes1
Has abstractyes

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