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Updated: Feb 28, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A mixed methods approach to understanding patient outcomes in cardiovascular genetic counseling
Evan Lewis1,2, Hetanshi Naik1, Deborah Cragun3
1Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Abstract:
Genetic counselors (GCs) utilize a variety of skills while counseling patients. However, it remains unclear whether the frequency or types of skills used impact patient outcomes. We explored the use of specific GC communication skills in cardiology and their impact on empowerment and therapeutic alliance. Adults attending an initial cardiovascular GC appointment completed pre-visit and post-visit surveys. Measures included the Genetic Counseling Outcomes Scale (GCOS) and the Working Alliance Inventory (WAI). GC appointments were audio-recorded, transcribed, and coded using the Genetic Counseling Skills Checklist (GCSC). WAI and change in GCOS scores following the GC visit were stratified into high- and low-scoring groups for comparative analyses. Descriptive analyses were used to identify GCSC code patterns across sessions with high and low WAI and GCOS scores. Seventeen participants (65% female, mean age: 61 years) completed the study. Cases from seven GCs were included across four indications: cardiomyopathy, arrhythmia, dyslipidemia, and aortopathy. There was an increase in empowerment after GC appointments (p = 0.0007), with nearly half (8/17) of participants exhibiting a clinically meaningful increase. Sessions showed a diverse set of skills used across eight domains on the GCSC. Skills around mutual agenda setting, focus on patients' emotions, and facilitating decision-making were used more frequently in higher WAI-scoring sessions. However, when comparing participants who exhibited clinically meaningful changes in empowerment to those who did not, there was little difference in the skills used in sessions, though some skills may have been used more frequently with patients who demonstrated smaller changes in empowerment (e.g., eliciting ways to overcome barriers to taking action). This is the first application of the GCSC in nonsimulated patient settings. We observed trends suggesting varying use of GC skills may contribute to differences in therapeutic alliance and that GCs alter the skills they use for different patients.
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