The field of genetics and genomics has experienced significant advancements in recent years, leading to increased integration of genetic testing and considerations into various medical disciplines. However, the number of genetic subspecialists remains limited, resulting in challenges for patients and health care providers seeking timely access to genetics expertise [1,2]. The shortage of genetic specialists, coupled with the growing demand for their services, has led to prolonged waiting times for appointments and potential delays in patient care [3].

As genetic testing is increasingly incorporated into the diagnostic and treatment processes across medical specialties, there is a pressing need to improve communication and collaboration between genetic specialists and a wide range of health care providers [4]. Primary care clinicians, specialists in other disciplines, and allied health professionals often require guidance and support when interpreting genetic test results, understanding their implications, and supporting patient informed decisions regarding their management [5].

To address these challenges, health care systems have explored innovative solutions, such as electronic consultations (e-Consults), to facilitate prompt access to specialist expertise [6]. e-Consults have emerged as a promising approach to bridge the gap between the limited number of genetic specialists and the growing demand for their service. Within genetics and genomics programs, e-Consult initiatives have demonstrated their effectiveness in addressing basic questions without the need for an in-person visit and providing educational opportunities for generalists to enhance their knowledge and skills in genetics care [7-10]. As genetics becomes increasingly integrated into mainstream medical practice, e-Consults serve as a valuable tool to foster collaboration, ensure knowledge sharing, and provide high-quality, genetics-informed care to patients.

The e-Consult service at the University of California San Francisco (UCSF) started in 2012 [11]. Initially, the program was grant funded and then financially supported by the health system. By 2015, the UCSF entered into agreements with three payers to receive reimbursement for specialist e-Consults, and by 2020, the Centers for Medicare and Medicaid Services (CMS) and other payers started providing reimbursement for e-Consults that are completed and not declined. The introduction of Genetics e-Consults occurred in June 2017, positioning the UCSF as an early adopter in the United States. Herein, we describe the establishment of our Genetics e-Consult service for providers within our institution and its utilization.

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 fiscal year (FY) 2017 to 144 in FY 2023 (Figure 1).

Of the 622 Genetics e-Consults, 360/622 (57.8%) were completed, while 262/622 (42.1%) were either declined or deferred to another specialty (Figure 2). Responses were provided on the same day for 263/622 consults (42.3%), within 3 days for 522/622 consults (83.9%), and within 7 days for 562/622 consults (90.4%; Multimedia Appendix 1).

A comprehensive case-level analysis was conducted for the 144 e-Consults ordered during the FY 2023 (June 2022 to July 2023), as this was the first year in which the e-Consult service was fully integrated, with standardized workflows, defined practices, and distinct divisions for Adult, Pediatric, and Cancer Genetics. Prior years lacked the necessary structure and documentation for a comparable analysis. Adult Genetics received the most consults (109/144, 75.7%), followed by Pediatric Genetics (25/144, 17.4%) and Adult Cancer Risk Genetics (10/144, 6.9%). A total of 88/144 (61.1%) of these e-Consults were completed with detailed responses, 46/144 (31.9%) were declined and converted to in-person Genetics appointments, and 10/144 (6.9%) were declined for other reasons such as insufficient information or referral to another specialty (Figure 3).

Nearly half (69/144, 47.9%) of the FY 2023 e-Consults originated from general practices such as primary care, general medicine, and women’s health. The median time to answering an e-Consult was 15 (IQR 10‐25) minutes. e-Consultants spent less than 5 minutes in all the declined cases and an average of 11‐20 minutes on completed cases and mostly 5‐10 minutes on cases that were declined and scheduled with Genetics (Figure 3). The most common types of e-Consult requests were queries about genetic diagnoses (73/144, 50.6%), assistance with test interpretation (16/144, 11.1%), and management recommendations for patients with known genetic diagnoses (13/144, 9%) or unknown genetic diagnoses (12/144, 8.3%; Multimedia Appendix 1). e-Consultants provided a range of services, with the most frequent being scheduling patients for outpatient visits (61/144, 42.3%), providing genetic counseling and management recommendations (35/144, 24.3%), making management recommendations alone (27/144, 18.5%), and offering guidance on genetic testing (17/144, 11.8%) and recommended genetics referrals (5/144, 3.4%; Multimedia Appendix 1). A chart review of 134 e-Consults (88 completed and 46 scheduled) revealed that 65/134 patients (48.5%) were referred to and seen by Genetics, 14/134 (12%) were referred with a pending appointment, 5/134 (3.7%) were referred but canceled their appointments, 31/134 (23.1%) had their care informed by the e-Consult recommendations, 5/134 (3.7%) had genetic testing ordered by their referring provider, 12/134 (9%) did not get a Genetics referral, and 2/134 (1.5%) did not have any genetic testing performed (Figure 3).

Our study demonstrates the successful implementation and growth of an e-Consult service that connects general providers and specialists with genetics experts at a large academic medical center. The UCSF Genetics e-Consult service experienced a steady increase in volume from 34 consults in FY 2017 to 144 in FY 2023 (Figure 1), highlighting the growing demand for accessible genetics expertise.

The e-Consult service provided an efficient means to triage genetics questions, with 57.8% (360/622) of the submitted consults completed and 42.1% (262/622) declined, primarily to schedule in-person evaluations instead (184/262, 70.2% of declined cases). The average turnaround time of 3 days demonstrates the responsiveness of the service in addressing clinical questions.

An analysis of 144 e-Consults from FY 2023 revealed that Adult Genetics handled the majority 109/144 (75.7%), followed by Pediatric Genetics 25/144 (17.4%) and Adult Cancer Risk Genetics 10/144 (6.9%). While 88/144 (61.1%) of these consults were completed electronically, 46/144 (31.9%) were declined and converted to in-person visits (Figure 3), suggesting that e-Consults can help determine when face-to-face evaluations are needed. Nearly half (69/144, 47.9%) of FY 2023 e-Consults came from generalists in primary care, general medicine, and women’s health, indicating broad adoption across nongenetics specialties. e-Consultants provided prompt responses, spending 20 minutes or less on 75% of the cases (Figure 3).

The most common reasons for e-Consults were questions about genetic diagnoses (73/144, 50.6%), test interpretations (16/144, 11.1%), and patient management (Multimedia Appendix 1). e-Consultants frequently recommended clinic visits (61/144, 42.3%), provided counseling and management advice (35/144, 24.3%), and offered guidance on genetic testing (17/144, 11.8%; ). Referral outcomes data demonstrated that e-Consults resulted in 62% (84/134) of patients being seen by or scheduled with appointments at Genetics, while for 20% of patients (31/134), e-Consult advice influenced their care without necessitating a formal referral to Genetics.

These findings align with and expand upon the limited existing literature on Genetics e-Consult programs. Similar to studies by Bhola et al [9] and Folkerts et al [10], we observed efficient turnaround times, a wide range of clinical topics addressed, and high rates of guideline-concordant care when e-Consults provided actionable recommendations. Our higher e-Consult volume likely reflects the longer duration and wider scope of our program.

The high proportion of e-Consults completed electronically (360/622, 57.9%) highlights the potential for e-Consults to optimize genetics care delivery by addressing straightforward questions, triaging complex cases for in-person evaluation, and guiding appropriate previsit workups. The 84% adherence rate among providers to e-Consult recommendations underscores the educational impact of specialist guidance.

The limitations of our study include the single-center design, lack of long-term outcome data, and absence of referring provider and patient perspectives. Future research should compare e-Consult programs across diverse health care settings; incorporate feedback from key stakeholders; and evaluate the impact on care access, quality, and costs.

In conclusion, the UCSF Genetics e-Consult service demonstrates a scalable and efficient model for expanding access to genetics expertise. By providing timely, individualized guidance to nongenetics providers, e-Consults can help optimize resource utilization, provider education, and patient care as genetics becomes increasingly integrated into routine clinical practice.