A Centralized Approach for Practicing Genomic Medicine

Pediatrics
Vol. 145, Issue 3 1 Mar 2020
https://pediatrics.aappublications.org/

 

Special Article
A Centralized Approach for Practicing Genomic Medicine
Sawona Biswas, Livija Medne, Batsal Devkota, Emma Bedoukian, Donna Berrodin, Kosuke Izumi, Matthew A. Deardorff, Jennifer Tarpinian, Jacqueline Leonard, Loiusa Pyle, Christopher Gray, Jasmine Montgomery, Tyrah Williams, Sierra Fortunato, Jamila Weatherly, Deborah McEldrew, Manindar Kaur, Sarah E. Raible, Alisha Wilkens, Nancy B. Spinner, Cara Skraban and Ian D. Krantz
Pediatrics March 2020, 145 (3) e20190855; DOI: https://doi.org/10.1542/peds.2019-0855
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.