Related Experiment Video
Updated: May 3, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Assessing the Utilization of Electronic Consultations in Genetics: Seven-Year Retrospective Study
Sawona Biswas1,2, Joyce So2, Robert Wallerstein2
1Department of Pathology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94115, United States, 1 415-514-7648.
The UCSF Genetics e-Consult service improves access to genetic expertise, with most consultations resolved efficiently. This model enhances genetic healthcare access and provider adherence to recommendations.
Area of Science:
- Medical Genetics
- Health Services Research
- Digital Health
Background:
- Limited availability of genetic subspecialists in the US poses challenges for patient and provider access.
- The University of California San Francisco (UCSF) implemented a Genetics electronic consultation (e-Consult) service to improve access to genetic expertise.
- This service facilitates asynchronous provider-to-provider communication for genetic consultations.
Purpose of the Study:
- To evaluate the impact of the UCSF Genetics e-Consult service on patient access to genetic expertise.
- To assess the efficiency and effectiveness of the e-Consult model in providing genetic consultations.
Main Methods:
- A retrospective chart review of 622 e-Consult requests was performed.
- Data collected included completion rates, response times, consultation content, and adherence to recommendations.
- Analysis focused on the period from October 2016 to March 2024.
Main Results:
- The UCSF Genetics e-Consult service received 622 orders, with a 57.8% completion rate; 54.6% were resolved without a specialty visit.
- Geneticists responded to 83.9% of e-Consults within 3 days, with high adherence (84%) to recommendations.
- Primary care providers and pediatricians submitted nearly half of the requests, primarily for diagnostic queries and test interpretation.
Conclusions:
- The UCSF Genetics e-Consult service demonstrates efficiency in delivering timely genetic consultations.
- High provider adherence to recommendations suggests the model's effectiveness.
- e-Consult frameworks show promise for expanding access to genetic healthcare services.
More Related Videos
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Related Concept Videos
Longitudinal Research
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...