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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Innovative telehospitalist model optimizes medical triage in collaboration with community emergency departments: A cross-sectional study.
J Telemed Telecare
January 2025
Division of Hospital Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Introduction: Optimal hospital bed utilization requires innovative patient care models. We studied a novel hospitalist model utilizing telemedicine to facilitate collaboration with affiliated emergency departments (EDs) and support medical triage and care of ED patients with high likelihood of hospital admission.
Methods: Telehospitalists based at a tertiary care facility collaborated with four community EDs in the same healthcare network between January 1, 2022, and April 30, 2023.
Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.
Circ Genom Precis Med
January 2025
CARIM School for Cardiovascular Diseases (A.I., S.Z., J.W., B.B., H.J.G.M.C., B.H., M.K., S.V., U.S., M.S.), Maastricht University, the Netherlands.
Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.
Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.
Evaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems.
Circ Genom Precis Med
January 2025
Section of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, CT (A.A., L.S.D., E.K.O., R.K.).
Background: While universal screening for Lp(a; lipoprotein[a]) is increasingly recommended, <0.5% of patients undergo Lp(a) testing. Here, we assessed the feasibility of deploying Algorithmic Risk Inspection for Screening Elevated Lp(a; ARISE), a validated machine learning tool, to health system electronic health records to increase the yield of Lp(a) testing.
View Article and Find Full Text PDFRandom Survival Forest Machine Learning for the Prediction of Cardiovascular Events Among Patients With a Measured Lipoprotein(a) Level: A Model Development Study.
Circ Genom Precis Med
January 2025
Department of Medicine, Division of Cardiology (M.P., N.J.P., N.P.S.), Duke University, Durham, NC.
Background: Established risk models may not be applicable to patients at higher cardiovascular risk with a measured Lp(a) (lipoprotein[a]) level, a causal risk factor for atherosclerotic cardiovascular disease.
Methods: This was a model development study. The data source was the Nashville Biosciences Lp(a) data set, which includes clinical data from the Vanderbilt University Health System.
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