Amy Curry Sturm

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.

This study shows that genetic counseling educational videos improve access to genetic testing and counseling for inpatients with cardiovascular disease by increasing consult volumes and patient decision-making confidence.

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

The paper explores primary care providers' experiences with receiving genetic results from a national biobank study, highlighting challenges in integrating genetic information into routine care.

The paper describes the design and pilot results of a study returning genetic results for familial hypercholesterolemia to MVP participants, showing a reduction in LDL-C after genetic counseling.

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

The paper identifies FLNC loss-of-function variants in a clinical population and finds they are associated with increased odds of arrhythmogenic cardiomyopathy phenotypes.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

This study examines factors influencing genetic testing intentions in patients with familial hypercholesterolemia, finding psychological reassurance is the main predictor.

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.