Bethany Zettler

Elective genomic sequencing for adults in research, clinical and commercial contexts

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

Data-driven consideration of genetic disorders for global genomic newborn screening programs

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project

The paper explores parental perspectives on genomic sequencing research participation among under-represented racial and ethnic groups, finding high interest but identifying barriers to enrollment.

Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.