Research Report 2019_20


Elaine Lyon, PhD, FACMG, with her team discussing the Global Screening Array and other tests offered at the HudsonAlpha Clinical Services Lab.

Through the analysis of the child’s genome, Lyon and her team at the CSL found a pathogenic variant in the gene CDC4 2. This new knowledge, combined with the child’s symptoms, allowed his doctors to make the di- agnosis of Takenouchi-Kosaki syndrome. Providing a diagnosis for previously undiagnosed medical condi- tions helps not only guide treatment approaches but also gives the patients and their families answers, and often access to a support system of other people with similar conditions. The CSL aims to provide the most complete clini- cal genomic services by incorporating scientific discov- ery into clinical care. The close proximity of the clinical lab to research labs at the HudsonAlpha Institute for Biotechnology allows the CSL to stay at the forefront of cutting-edge genomic technology. As researchers discover new genes implicated in disease, the CSL is right behind them, developing both the technology and interpretation standards necessary to implement it into clinical testing. As part of their mission, the CSL also strives to pro- videguidance tohealthcareproviders, systems, patients, and insurance companies about the appropriate use and interpretation of genomic services. In April 2019, Lyon, along with Associate Lab Director David Bick, MD, were chosen to participate in the American College of Medical

Genetics (ACMG) working group to update standards for interpretation of genetic sequence variants in a clinical setting. Both Bick and Lyon participated in the creation of the first set of standards for variant interpretation 2 and are now tasked with updating those standards to account for technological advances. As the number of genetic tests continues to grow, it is important that lab- oratory and clinical geneticists have a set of guidelines to help them classify the clinical significance of vari- ants detected by different genomic methods to ensure consistency between clinical labs. In October 2020, Lyon and CSL Associate Lab Director Ghunwa Nakouzi, PhD, FACMG, provided rec- ommendations for the diagnosis, management, and treatment of patients with genetic disorders in low- and middle-income countries during the COVID-19 pandem- ic 3 . Becauseof the lackof structuredhealth care systems in low- and middle-income countries, there has been a failure to facilitate continual care for patients with ex- isting genetic disorders. Lyon and Nakouzi joined col- leagues from the American University of Beirut to provide nine recommendations they hope will spark im- portant conversations amongst leaders in the genomics and healthcare communities about establishing guide- lines for the diagnosis, management, and treatment of patients with genetic disorders during this pandemic. n

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