Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings
Bibliographic record
Abstract
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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.012 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".