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Record W4409984521 · doi:10.1002/jgc4.70041

Exploring genetic counselors' perspectives on family group appointments for genetic testing

2025· article· en· W4409984521 on OpenAlexafffund
K.-T. Chang, Courtney B. Cook, Zoe Lohn, Angela C. Bedard

Bibliographic record

VenueJournal of Genetic Counseling · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsBC Cancer AgencyUniversity of British Columbia
FundersBC Cancer AgencyUniversity of British Columbia
KeywordsGenetic counselingGenetic testingHuman geneticsPublic healthFamily medicineGroup (periodic table)MedicineGeneticsPsychologyClinical psychologyNursingBiologyGene

Abstract

fetched live from OpenAlex

Increasing demand for genetics services has highlighted a need for more efficient genetic counseling service delivery models. Family group appointments (FGAs) may be a time-efficient approach to facilitate cascade genetic testing. This study aimed to explore genetic counselors' (GCs) perspectives on genetic counseling in a family group setting to inform effective practices for this service delivery method. Semi-structured interviews were conducted with GCs practicing in North America who have conducted FGAs for cascade genetic testing. Participants completed a survey about demographic information and FGA experience. A subset of survey respondents was invited to complete an interview. Interview transcripts were coded using an interpretive description approach. 138 GCs completed the survey and 13 participated in interviews. Genetic counselors reported that the benefits of FGAs include family member support, group discussion, efficiency, effects on cascade testing uptake, and job satisfaction. Key considerations included various logistical factors, respecting individual preferences about genetic testing, maintaining privacy, and existing family dynamics. Participants discussed how FGAs condense information and open appointment slots for other patients in their clinic. Logistical considerations identified were related to scheduling and attendance, such as GCs holding licensure in every state that patients are located in during the appointment, aligning multiple patient schedules, and flexibility with different appointment modalities. Benefits identified in our study highlight potential reasons that GCs and patients may consider FGAs as a preferred service delivery model for certain appointments. The considerations described in our study can help guide GCs arranging, conducting, and following up with a FGA. Our results also detail the importance of relational autonomy in medical decision-making, which is emphasized in FGAs and should be considered by genetics service providers accordingly.

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)0.007
metaresearch head score (Gemma)0.019
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 score0.027
Threshold uncertainty score0.055

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0070.019
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0090.004
Scholarly communication0.0030.002
Open science0.0010.003
Research integrity0.0020.003
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 head0.046
GPT teacher head0.293
Teacher spread0.247 · 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

Citations1
Published2025
Admission routes2
Has abstractyes

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