Colleen A. Caleshu

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

This study shows cardiovascular genetic counseling improves patient empowerment and reduces worry, with benefits varying by patient characteristics and the strength of the counselor-patient relationship.

The Effects of Mindfulness Meditation on Burnout in Clinical Genetic Counselors: A Three-Arm Randomized Controlled Trial

This study tests mindfulness meditation's effect on burnout in genetic counselors, finding it reduces burnout compared to a passive control but not an active meditation control.

Well-being and self-care strategies for cardiovascular genetic counselors: a qualitative study

This study explores the impact of cardiovascular genetic counseling on well-being and describes self-care practices through qualitative interviews.

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

The paper validates a digital tool for assessing germline cancer genetic testing eligibility based on patient and family history, showing high agreement with genetic counselors.

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanisms

The paper investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.