Date of Award


Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Monisha Sebastin, MS, CGC

Second Advisor

J. Fitzpatrick Doyle, MS, CGC


Hereditary cardiomyopathies and cardiac arrhythmias can be inherited in an autosomal dominant pattern, which puts a patient with a positive genetic test result at a 50% chance to pass this variant onto any children. Our pilot study with Montefiore Medical Center aims to understand how confident patients feel about their cardiology genetic test results and how participants can share information with relevant family members and healthcare professionals. This study attempts to qualify the physical and emotional barriers patients face and understand the psychosocial burden they face following their results session. For our study, 43 participants were contacted via phone call or in-person after result disclosure sessions, and a total of 16 surveys were completed for a 37.2% response rate excluding one individual who did not complete the survey. Our results found a statistical significance for Genetic Counseling Outcome Scale scores between patients who did report a known referral indication and those who did not know or remember their indication (p=0.0016). While the assessment of physical barriers and emotional barriers was not overwhelming, there was a minority of participants who did report such hurdles, such as anxiety about the condition in their family and worry about the lack of a "genetic cure." To better understand the diverse populations and socioeconomic landscape of the Bronx, future studies should include a version of the survey accessible in Spanish and a larger sample size. To assess statistical significance, this survey should be administered through pre-genetic counseling sessions and post-result disclosure sessions to determine any improvements in patients' understanding. Lastly, physical and emotional barriers are not isolated to cardiology; this study should be replicated and expanded to include other genetics specialties.