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

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.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

This retrospective quality control/quality improvement (QC/QI) study involved a chart review of de-identified data from the electronic medical records at the University of California San Francisco (UCSF). The study was conducted solely for the purpose of evaluating and improving the existing Genetics e-Consult service within the institution. As this project did not involve primary data collection, and was intended for internal quality improvement with no impact on patient care decisions or patient rights, it did not constitute human subjects research under the purview of the Department of Health and Human Services. Ethics Committee/Institutional Review Board (IRB) of University of California San Francisco (UCSF) waived ethical approval as per UCSF's internal policies and federal regulations.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

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I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

Data Availability

All data produced in the present study are available upon reasonable request to the authors

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