Sabrina A. Suckiel

Designing to Implement Genomics Informed ASCVD Risk Assessment: Patient and Clinician Perspectives about Identifying and Managing the Underlying Causes of Severe Hypercholesterolemia

The paper explores patient and clinician perspectives on identifying and managing the underlying causes of severe hypercholesterolemia through genomic insights.

Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic counseling in racially and ethnically diverse families

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis.

GenomeDiver improves genomic diagnosis by enabling clinicians to input structured phenotypic data to guide gene prioritization and enhance collaboration with diagnostic labs.

Implementing genomic screening in diverse populations

This paper reports on a pilot genomic screening program in a diverse population, finding higher return rates for hATTR results in African/African American and Hispanic/Latinx participants.

GUIA: a digital platform to facilitate result disclosure in genetic counseling

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.

Exome Sequencing Reveals a High Prevalence of BRCA1 and BRCA2 Founder Variants in a Diverse Population-Based Biobank

The paper uses exome sequencing and EHR data to find BRCA1/2 pathogenic variants in a diverse biobank population, revealing high prevalence in certain ancestry groups and gaps in knowledge for non-European populations.