A Centralized Approach for Practicing Genomic Medicine.

Autor:	Biswas S; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Contributed equally as co-first authors., Medne L; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Contributed equally as co-first authors., Devkota B; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bedoukian E; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Berrodin D; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Izumi K; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and., Deardorff MA; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and., Tarpinian J; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Leonard J; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Pyle L; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and., Gray C; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Montgomery J; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Williams T; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Fortunato S; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Weatherly J; Roberts Individualized Medical Genetics Center, Division of Human Genetics., McEldrew D; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Kaur M; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Raible SE; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Wilkens A; Informed DNA, St. Petersburg, Florida., Spinner NB; Division of Genomic Diagnostics, and.; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and., Skraban C; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and., Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
Jazyk:	angličtina
Zdroj:	Pediatrics [Pediatrics] 2020 Mar; Vol. 145 (3). Date of Electronic Publication: 2020 Feb 26.
DOI:	10.1542/peds.2019-0855
Abstrakt:	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. Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose. (Copyright © 2020 by the American Academy of Pediatrics.)
Databáze:	MEDLINE
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