Evidence map›Paper›PMID 40305828›Full record

ArticleJMIR formative research2025

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

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

Abstract read
In one paragraph

Article in JMIR formative research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Sawona BiswasDepartment of Pathology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94115, United States, 1 415-514-7648.ORCID 0000-0002-0990-6795
Joyce SoDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, United States.ORCID 0000-0002-1777-4198
Robert WallersteinDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA, United States.ORCID 0000-0003-2102-7950
Ralph GonzalesDepartment of Medicine, University of California, San Francisco, San Francisco, CA, United States.ORCID 0000-0002-6061-7219
Delphine ToutDivision of Nephrology, University of California, San Francisco, San Francisco, CA, United States.ORCID 0000-0003-1484-8945
Lisa DeAngelisAmbulatory Patient Care Access, UCSF Health, San Francisco, CA, United States.ORCID 0009-0005-1836-6136
Aleksandar RajkovicDepartment of Pathology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94115, United States, 1 415-514-7648.ORCID 0000-0001-8390-0263

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Genetic CounselingReferral and ConsultationAdultFemaleGenetic TestingHumansMaleMiddle AgedRetrospective StudiesSan Franciscoaccessibilityassessmentconsultationse-Consulte-Consult frameworkseffectivenesselectronic consultationgeneticgenetic expertsgenetic testinggenomichealthcare providerspatient careretrospectiveuniversityutility

Identifiers

PMID40305828
PMCPMC12058035

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.