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Record W4409962816 · doi:10.1002/jgc4.70025

What are patient perspectives on privacy and trust in digital genomic tools? A qualitative study

2025· article· en· W4409962816 on OpenAlexafffund
Vedika Jha, Saumeh Saeedi, Marc Clausen, Daniel Assamad, Sonya Grewal, Daena Hirjikaka, Whiwon Lee, Stephanie Luca, Angela Shaw, Robin Z. Hayeems, Yvonne Bombard

Bibliographic record

VenueJournal of Genetic Counseling · 2025
Typearticle
Languageen
FieldMedicine
TopicEthics in Clinical Research
Canadian institutionsInstitute for Clinical Evaluative SciencesSickKids FoundationHospital for Sick ChildrenUniversity of TorontoSt. Michael's Hospital
FundersResearch Committee, Aristotle University of ThessalonikiCanadian Institutes of Health ResearchUniversity of TorontoMcLaughlin Centre, University of Toronto
KeywordsQualitative researchPublic healthInternet privacyPatient privacyGenomic medicineHuman geneticsGenetic counselingDigital healthMedicinePsychologyComputer scienceData scienceGeneticsComputational biologySociologyNursingHealth careBiologyPolitical scienceSocial scienceGene

Abstract

fetched live from OpenAlex

Digital tools have emerged as a promising solution to increase the efficiency and capacity of genomic services. However, accessing information through internet-based applications raises concerns about privacy and security risks. As patient-facing digital tools are developed for genomic medicine, it is vital to understand and incorporate patients' perspectives on digital privacy and security. A qualitative study was conducted using semi-structured interviews and interpretive description. Thirty participants who previously received genetic testing for themselves (n = 17) or their child (n = 13) were interviewed (n = 20 females, n = 15 above 50 years old). Participants were willing to store and access genomics personal health information (PHI) in a patient-facing digital platform. The main benefit identified by participants was the ability to access and control their own PHI. Participants expressed that the benefits of digital genomics services, such as patient empowerment and personalized care, outweighed the perceived risks, such as potential data leaks. In order to minimize risks, participants emphasized the importance of transparency about the security measures in place and who would have access to their PHI. These findings inform the design of digital genomic platforms to enhance patients' sense of security, which is critical for the uptake and usage of any platform.

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)0.032
metaresearch head score (Gemma)0.045
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 score0.032
Threshold uncertainty score0.171

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0320.045
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.002
Science and technology studies0.0100.011
Scholarly communication0.0060.007
Open science0.0020.007
Research integrity0.0030.005
Insufficient payload (model declined to judge)0.0040.000

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 head0.188
GPT teacher head0.520
Teacher spread0.332 · 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".

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Citations0
Published2025
Admission routes2
Has abstractyes

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