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Record W4401828471 · doi:10.1002/jgc4.1963

Adoptees' experiences of using direct‐to‐consumer genetic testing and determinants of this use: A mixed study in Quebec

2024· article· en· W4401828471 on OpenAlexaffabout
Johanna Despax, Carl Lacharité, Évelyne Bouteyre

Bibliographic record

VenueJournal of Genetic Counseling · 2024
Typearticle
Languageen
FieldMedicine
TopicReproductive Health and Technologies
Canadian institutionsUniversité du Québec à Trois-Rivières
Fundersnot available
KeywordsPublic healthGenetic testingGenetic counselingMedicineHuman geneticsFamily medicinePsychologyClinical psychologyGeneticsBiologyInternal medicineNursingGene

Abstract

fetched live from OpenAlex

Adoptees' use of direct-to-consumer genetic testing (DTC-GT) is known to raise both ethical and emotional issues, and it can also challenge their identity. The objective of the present study was to describe the experiences of DTC-GT use among adoptees living in Quebec and to better understand the benefits and disadvantages of use. We adopted a mixed method approach whereby a questionnaire comprising standardized scales was administered to 143 adoptees who had used genetic testing and 40 adoptees who had not. Semi-structured interviews were performed with five respondents from the DTC-GT use group. The quantitative and qualitative data were analyzed and integrated together using the Pillar Integration Process. The results highlighted familial reunion as the primary motivation for the use of DTC-GT among responding adoptees. Reported challenges included needing help with results interpretation, as well as the need for autonomy in the ownership of the results. Participants describe not being particularly concerned by potential ethical issues, describing the benefits of the tests as more important than possible disadvantages. Overall, participants had a good experience of using DTC-GT, and users were less anxious. Various factors associated with the use and experience of use were highlighted (age, psychological distress, community membership, etc.). The results from this study provide much-needed information about adoptees' needs regarding DTC-GT, highlight key risk factors, and introduces best practice recommendations so that adoptees are properly informed and supported when pursuing DTC-GT.

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)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Qualitative · Consensus signal: Qualitative
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.103
Threshold uncertainty score0.207

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.004
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.002
Science and technology studies0.0040.002
Scholarly communication0.0030.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.063
GPT teacher head0.351
Teacher spread0.287 · 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 designQualitative
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

Citations2
Published2024
Admission routes2
Has abstractyes

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