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Accepted for/Published in: JMIR Formative Research

Date Submitted: Jun 7, 2024
Open Peer Review Period: Jun 24, 2024 - Aug 19, 2024
Date Accepted: Mar 11, 2025
(closed for review but you can still tweet)

The final, peer-reviewed published version of this preprint can be found here:

Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study

Biswas S, So J, Wallerstein R, Gonzales R, Tout D, DeAngelis L, Rajkovic A

Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study

JMIR Form Res 2025;9:e63028

DOI: 10.2196/63028

PMID: 40305828

PMCID: 12058035

Assessing the Utilization of Electronic Consultation in Genetics: A Seven-Year Retrospective Study

  • Sawona Biswas; 
  • Joyce So; 
  • Robert Wallerstein; 
  • Ralph Gonzales; 
  • Delphine Tout; 
  • Lisa DeAngelis; 
  • Aleksandar Rajkovic

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.


 Citation

Please cite as:

Biswas S, So J, Wallerstein R, Gonzales R, Tout D, DeAngelis L, Rajkovic A

Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study

JMIR Form Res 2025;9:e63028

DOI: 10.2196/63028

PMID: 40305828

PMCID: 12058035

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