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Record W4414699474 · doi:10.1101/2025.09.29.25336936

Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings

2025· preprint· en· W4414699474 on OpenAlexaffabout
Brittney Murray, Catherine Gordon, Susan Christian, Tara Dzwiniel, Crystal Tichnell, Emily Brown, Gretchen MacCarrick, Rebecca McClellan, Chloe M. Reuter, Hannah E. Ison, Jennefer Carter, Tia Moscarello, Ryan Murtha, Mitchel Pariani, Julia Platt, Christina Rigelsky, Diane Clements, Joseph Liu, Elizabeth Jordan, Robyn J. Hylind, Sarah Wang, Zoe Lindsay-Mills, Megan Betts, Eric P. Tricou, Amy C. Sturm, Adam H. Buchanan, Sara Fitzgerald‐Butt, Benjamin M. Helm, Laura Yeates, Colleen Caleshu, Jodie Ingles, Lisa R. Yanek, Cynthia A. James

Bibliographic record

VenuemedRxiv · 2025
Typepreprint
Languageen
FieldMedicine
TopicCardiomyopathy and Myosin Studies
Canadian institutionsStollery Children's HospitalUniversity of Alberta
FundersMedical Research CouncilNational Health and Medical Research CouncilNational Heart Foundation of Australia
KeywordsWorryPatient EmpowermentMEDLINEGenetic counselingPopulationOutpatient clinic

Abstract

fetched live from OpenAlex

Background: Contemporary guidelines recommend genetic counseling for potentially inherited cardiomyopathies, channelopathies, aortopathies, and dyslipidemias, but few, small, studies characterize cardiovascular genetic counseling (CVGC) outcomes impeding efforts to improve CVGC service delivery. We aimed to 1) quantify psychosocial CVGC outcomes, 2) identify clinical, demographic, and service delivery characteristics associated with extent of benefit from CVGC, and 3) determine how outcomes are associated with patient-reported quality of the genetic counselor (GC):patient alliance. Methods: 890 adults attending a first outpatient CVGC appointment at eight United States and Canadian medical centers completed questionnaires assessing empowerment (Genetic Counseling Outcome Scale [GCOS-24]), worry (modified Cancer Worry Scale [CWS]), cardiac anxiety (Cardiac Anxiety Questionnaire [CAQ]), and GC:patient alliance (Working Alliance Inventory-patient [WAI-SR]) prior to and up to 4 weeks post-CVGC, but before results of genetic tests ordered were returned to decouple CVGC and genetic test result impact. Results: Following CVGC, empowerment increased (GCOS-24 change: +5.94±11.6, p<0.001), worry decreased (CWS change: -0.40±3.55, p=0.002), and cardiac fear decreased (CAQ fear subscale change: -0.034±0.46, p=0.033) with no change in whole-scale CAQ (0.013±0.34, p=0.29). In linear regression, worry decreased most in patients with less formal education (p=0.0021), with an arrhythmia indication (p=0.013), and who were at-risk family members (p=0.016) while strength of the GC:patient alliance had no impact. In contrast, the GC:patient alliance was strongly positively associated with change in empowerment (p<0.001). Conclusions: This observational, multicenter, multiprovider study provides foundational evidence that CVGC is associated with increased empowerment and decreased worry in adults attending outpatient CVGC and suggests opportunities for optimizing CVGC services.

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)0.012
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 score0.010
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.012
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.024
GPT teacher head0.321
Teacher spread0.297 · 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

Citations1
Published2025
Admission routes2
Has abstractyes

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