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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

Emma K Folkerts^1,2, Renée C Pelletier^1,2, Daniel C Chung^3,4,5

¹Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.

Medrxiv : the Preprint Server for Health Sciences

|February 17, 2023

Summary

Electronic consultations (e-Consults) improve access to genetics specialists by connecting clinicians with experts. This service successfully addressed genomics questions, with most recommendations being followed by ordering clinicians.

Keywords:

EHR delivery model e-Consult genetics genomics primary care

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Area of Science:

Medical Genetics
Health Services Research

Background:

Increasing demand for genetics expertise necessitates innovative service delivery models.
Traditional access to genetics specialists can be a bottleneck in patient care.

Approach:

Implementation of an electronic consultation (e-Consult) service at Massachusetts General Hospital to address genomics-related inquiries.
The service managed 153 requests in its first year, completing 122 consultations within an average of 3.2 days.

Key Points:

The e-Consult service demonstrated efficiency, with a rapid turnaround time for consultations.
Actionable recommendations were provided in 95 e-Consults, with 82% documented follow-through by ordering clinicians.
The service was utilized by a diverse range of providers, predominantly generalists (77%).

Conclusions:

Electronic consultation models are a viable strategy for expanding access to specialized genetics care.
The findings support the integration of e-Consults into healthcare systems to bridge the gap in genetics expertise.