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Record W2138477182 · doi:10.1093/schbul/sbs124

Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age

2012· article· en· W2138477182 on OpenAlexafffund
Gregory Costain, Mary Jane Esplen, Brenda B. Toner, Kathleen Hodgkinson, Anne S. Bassett

Bibliographic record

VenueSchizophrenia Bulletin · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsToronto General HospitalMemorial University of NewfoundlandUniversity Health NetworkUniversity of TorontoCentre for Addiction and Mental Health
FundersCanadian Institutes of Health Research
KeywordsSchizophrenia (object-oriented programming)PsychologyGenetic counselingClinical psychologyPsychiatryGeneticsBiology

Abstract

fetched live from OpenAlex

BACKGROUND: Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a community mental health-care setting by non-genetics professionals. METHODS: We used a pre-post study design with longitudinal follow-up to assess the impact of genetic counseling on family members of individuals with schizophrenia, where molecular testing had revealed no known clinically relevant genetic risk variant. We assessed the outcome using multiple measures, including standard items and scales used to evaluate genetic counseling for other complex diseases. RESULTS: Of the 122 family members approached, 78 (63.9%) actively expressed an interest in the study. Participants (n = 52) on average overestimated the risk of familial recurrence at baseline, and demonstrated a significant improvement in this estimate postintervention (P < .0001). This change was associated with an enduring decrease in concern about recurrence (P = .0003). Significant and lasting benefits were observed in other key areas, including increased knowledge (P < .0001) and a decreased sense of stigma (P = .0047). Endorsement of the need for genetic counseling was high (96.1%). CONCLUSIONS: These results provide initial evidence of the efficacy of schizophrenia genetic counseling for families, even in the absence of individually relevant genetic test results or professional genetics services. The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community.

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)0.006
metaresearch head score (Gemma)0.012
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.034

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.012
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.001
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 head0.023
GPT teacher head0.303
Teacher spread0.280 · 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 designObservational
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

Citations48
Published2012
Admission routes2
Has abstractyes

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