TY  - JOUR
AU  - Biswas, Sawona
AU  - So, Joyce
AU  - Wallerstein, Robert
AU  - Gonzales, Ralph
AU  - Tout, Delphine
AU  - DeAngelis, Lisa
AU  - Rajkovic, Aleksandar
PY  - 2025
DA  - 2025/4/30
TI  - Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study
JO  - JMIR Form Res
SP  - e63028
VL  - 9
KW  - genomic
KW  - e-Consult
KW  - genetic
KW  - utility
KW  - retrospective
KW  - assessment
KW  - effectiveness
KW  - electronic consultation
KW  - healthcare providers
KW  - genetic experts
KW  - university
KW  - consultations
KW  - e-Consult frameworks
KW  - accessibility
KW  - genetic testing
KW  - patient care
AB  - Background: Patient and health care provider access to genetic subspecialists is challenging owing to limited number of genetics experts across the United States. The University of California San Francisco (UCSF) Genetics electronic consultation (e-Consult) service was implemented along with the usual referral pathway to improve access to timely genetic expertise through robust asynchronous provider-to-provider communication. Objectives: This study examined the impact of the UCSF Genetics e-Consult service on patient access to genetics expertise. Methods: A retrospective chart review of 622 e-Consult requests was conducted. Data pertinent to e-Consult completion rates, provider response times, consultation content, and adherence to geneticist recommendations were abstracted. Results: From October 2016 to March 2024, the UCSF Genetics e-Consult service received a total of 622 consultation orders, with yearly volumes increasing from 34 in 2017 to 144 in 2023. A total of 360/622 (57.8%) consultations were completed, of which 197/360 (54.6%) were resolved without requiring a specialty care visit. Of the 262/622 (42.1%) e-Consult orders declined by the geneticist reviewer, 184/262 (70.2%) were scheduled for a synchronous genetics visit due to case complexity precluding an appropriate e-Consult response and 29.8% (78/262) were recommended to be referred to a different and more appropriate specialty. Geneticists responded to 83.9% (522/622) of e-Consults within 3 days, with most spending between 5 and 20 minutes on their e-Consult response. Nearly half of the genetics e-Consult requests (69/144; 47.9%) came from primary care providers and pediatricians. Among the 144 e-Consult requests in 2023, 50.6% (73/144) were about diagnostic queries, 17% (25/144) were on symptom management, and 11% (16/144) were about test interpretation. Provider adherence to geneticists’ recommendations was observed in 84% (116/144) of cases. Conclusions: The UCSF Genetics e-Consult service has demonstrated efficiency in providing timely genetic consultations, with a high rate of provider adherence to recommendations. These findings support the potential of e-Consult frameworks as a viable strategy for enhancing access to genetic health care services. 
SN  - 2561-326X
UR  - https://formative.jmir.org/2025/1/e63028
UR  - https://doi.org/10.2196/63028
DO  - 10.2196/63028
ID  - info:doi/10.2196/63028
ER  -