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Record W2567269832 · doi:10.1373/clinchem.2016.260349

Direct-to-Consumer Testing

2016· article· en· W2567269832 on OpenAlexaff
Michelle Li, Eleftherios P. Diamandis, David G. Grenache, Michael J. Joyner, Daniel T. Holmes, Rodger Seccombe

Bibliographic record

VenueClinical Chemistry · 2016
Typearticle
Languageen
FieldMedicine
TopicBiotechnology and Related Fields
Canadian institutionsSt. Paul's HospitalUniversity Health NetworkMount Sinai HospitalUniversity of Toronto
Fundersnot available
KeywordsGenetic testingDiseasePersonalized medicineInternet privacyMedicineGeneticsBiologyComputer sciencePathology

Abstract

fetched live from OpenAlex

Due to technological advancements, self-testing has become widely accessible to the public. Individuals can opt to have their genome sequenced or their blood tested for markers at a relatively cheap price. These direct-to-consumer services are essentially a commercialization of technologies being marketed to the general masses. Some genomic giants in the industry include 23andMe and Gene by Gene. Their test kits can be delivered internationally and sampling is performed by the user and sent back for laboratory analysis, thus establishing an accessible and flexible service model. Users can opt to test for specific genes that correspond to a potential disease or learn about disease predisposition, drug responses, or genetic characteristics. Other companies offer to quantify a range of biomarkers that can potentially predict the early onset of a disease or condition. Their kiosks and laboratories are situated within pharmacies and the blood tests can be performed without a physician's consent. The results are then electronically delivered to a physician or directly to the consumer, and are subject to self-interpretation. The underlying notion is that such testing may uncover abnormalities that could potentially serve as an early marker of disease. By identifying this pathogenic link at an early, asymptomatic stage, the consumer can possibly take steps to prevent disease later on. However, it is important to keep in mind that due to epigenetics, environmental and other factors a gene sequence is not always reflective of a phenotype. The sequencing only provides minimal information about a possible genetic foundation, yet ambiguous gene expression deems results inconclusive. Likewise, testing for biomarker concentrations in the blood is not necessarily a reflection of a patient's condition. Due to the large variability in individual physiology, there can be ambiguity with self-interpretation. Despite having access to reference ranges/intervals from online sources, many patients are in a poor …

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.004
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.408
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0000.001

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 head0.055
GPT teacher head0.353
Teacher spread0.299 · 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 teacher head, not a consensus.

Study designBench or experimental
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

Citations12
Published2016
Admission routes1
Has abstractyes

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