Amy L. McGuire

The paper explores professional perspectives on the value and feasibility of lifelong genomic medicine through interviews with 52 US-based professionals.

This study explores health care professionals' views on the timing of returning genomic newborn screening results, finding parental choice is most endorsed but requires support for disclosure to children.

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.

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

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