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medRxivGenetic & Genomic MedicinePreprint

A Seven-Year Retrospective Assessment Evaluating the Effectiveness of Electronic Consultation (e-Consult) Service in Genetics

Sawona BiswasiD, Joyce SoiD, Robert J. WallersteiniD, Ralph GonzalesiD, Delphine Tout, Lisa Marie DeAngelisiD, A RajkoviciD

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Abstract

Electronic consultation (e-Consult) programs serve as a conduit between healthcare providers and specialized genetic experts. This retrospective chart review and summary report presents the experience of implementing a Genetics e-Consult Service at the University of California San Francisco (UCSF) from 2016 through 2024 across multiple disciplines. The study examines 622 requests managed by the Genetics team, resulting in the completion of 360 e-Consults (57.8%) and the decline of 262 e-Consults (42.1%). Provider-to-provider consultations, conducted by board-certified geneticists, were completed within 3 days (83.9%), with consultation times ranging from 5 to 20 minutes in most cases (67%). Most requests originated from general practitioners in primary care, pediatrics, and family medicine (48.1%). Analysis of a subset of e-Consults (n=144) revealed that diagnostic queries accounted for 50.6% of requests, followed by management of symptoms (17%) and test interpretation (11%). Providers adhered to geneticists recommendations in 84% of cases. These findings underscore the potential of e-Consult frameworks as a viable strategy to enhance accessibility to genetic healthcare services.

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