Biomedical subjects

Adrienne Elbert

Publications and source records attributed to Adrienne Elbert.

2 recordsLinked to original sources

PubMed2026

Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients.

Traditional in-person consultations for genetic services create access barriers. We hypothesized that the Genetics Adviser platform-a web-based digital platform delivering clinical genomic services-could reduce these barriers. Focusing on pretest education and counseling, we tested a pilot version of the platform in medical genetics and pediatric endocrinology group practices. The multimethod design consisted of quantitative patient and caregiver surveys, Google Analytics data, and qualitative healthcare provider interviews. Surveys included validated measures of acceptability and empowerment. Transcribed interviews were thematically coded and analyzed using NVivo. Of the 102 patients and caregivers targeted for this study, 85/102 (83%) accessed the platform, 71/102 (70%) proceeded beyond the landing page, and 60/102 (59%) completed the post-module survey. Users expressed high confidence in genetic understanding and empowerment (Genomics Outcome Scale [GOS]: 77/100), and providers noted potential benefits and highlighted technological and content-related limitations. Further research is needed to validate effectiveness across diverse populations and to evaluate long-term impacts on patient outcomes and healthcare efficiency.

Humans↗

PubMed2025

Tandem splice acceptor sites: Profiling their relevance to human disease.

PURPOSE: Interpretation of variation, particularly the creation or disruption of tandem splice acceptor sites (NAGNnAG variants), challenges genomic medicine practice. METHODS: We analyzed the creation and disruption of dinucleotide AG sites within ±30 bases of natural splice-acceptor sites in the GRCh37 human reference genome. These results were compared with variant data from the ClinVar and gnomAD databases, as well as with data from 779 National Institutes of Health Undiagnosed Diseases Program study participants. Using RNA sequencing, we assessed the splicing at NAGNnAG variants for 107 of the Undiagnosed Diseases Program participants and compared the empirical data with SpliceAI predictions. RESULTS: Creation or disruption of NAGNnAG sites within 30 bases of the natural splice acceptor are enriched in ClinVar compared with gnomAD; however, such variants in the 2 databases are rarely differentiated by SpliceAI scores. Empirical evaluation via RNA sequencing analysis supported novel acceptor site usage from -21 to +30; splice-altering variants did not predominate in a specific region or have SpliceAI scores invariantly, suggesting increased spliceogenicity. CONCLUSION: NAGNnAG variants within 30 bp of the natural splice acceptor have a high probability of clinical relevance and are poorly contextualized for clinical utility. Their interpretation benefits from empirical evaluation via RNA analysis.

Humans↗