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. 2020 Mar;145(3):e20190855.
doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26.

A Centralized Approach for Practicing Genomic Medicine

Sawona Biswas  1   2 , Livija Medne  1   2 , Batsal Devkota  1   3 , Emma Bedoukian  1 , Donna Berrodin  1 , Kosuke Izumi  1   4 , Matthew A Deardorff  1   4 , Jennifer Tarpinian  1 , Jacqueline Leonard  1 , Loiusa Pyle  1   4 , Christopher Gray  1 , Jasmine Montgomery  1 , Tyrah Williams  1 , Sierra Fortunato  1 , Jamila Weatherly  1 , Deborah McEldrew  1 , Manindar Kaur  1 , Sarah E Raible  1 , Alisha Wilkens  5 , Nancy B Spinner  6   7 , Cara Skraban  1   4 , Ian D Krantz  1   4
Affiliations

A Centralized Approach for Practicing Genomic Medicine

Sawona Biswas et al. Pediatrics. 2020 Mar.

Abstract

Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such as lack of infrastructure or expertise within local health systems and complex result interpretation or counseling make it harder for frontline clinicians to incorporate genomic testing in their existing workflow. The general population is more informed and interested in pursuing genetic testing, and this has been coupled with the increasing accessibility of direct-to-consumer testing. As a result of these changes, primary care physicians and nongenetics specialty providers find themselves seeing patients for whom genetic testing would be beneficial but managing genetic test results that are out of their scope of practice. In this report, we present a practical and centralized approach to providing genomic services through an independent, enterprise-wide clinical service model. We present 4 years of clinical experience, with >3400 referrals, toward designing and implementing the clinical service, maximizing resources, identifying barriers, and improving patient care. We provide a framework that can be implemented at other institutions to support and integrate genomic services across the enterprise.

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Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Overview of the RIMGC infrastructure. Descriptions of each core and organization are shown.
FIGURE 2
FIGURE 2
Clinical workflow for inpatient and outpatient referrals for RIMGC. ENT, ear, nose, and throat; IRB, institutional review board
FIGURE 3
FIGURE 3
Patient referral and encounter details. A, Breakdown of referrals seen and billed. B, Reasons for not seeing referrals to RIMGC. C, Details of encounter types.
FIGURE 4
FIGURE 4
Details of tests added or changed by the RIMGC clinician based on the clinical review or consultation (value added).
FIGURE 5
FIGURE 5
Composition of results returned by the RIMGC clinician versus the referring physician versus both.
See this image and copyright information in PMC

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