Quest at ACMG 2023: Helping patients find answers through research

^{By Zöe Powis and Khalida Liaquat}

Through the years, Quest Diagnostics has been a proponent of active participation in the genomics research community. We at Quest Diagnostics believe that the participation and sharing of research aids in finding answers for patients and are proud to have the work of our employees at the 2023 American College of Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Salt Lake City this March. 

You can join Rebecca Nakles-Taylor, Elinette Albino, David Tsao, Rebecca Chen, Camille Nery, and Izabela Karbassi, to review their poster, “The Effect of Hurricane Maria and the COVID-19 Pandemic on Genetic Testing in Puerto Rico at a Diagnostic Reference Laboratory” (Poster #398). They examined how Hurricane Maria and the COVID-19 pandemic crises affected BRCA1 and BRCA2 genetic testing in Puerto Rico.

Zöe Powis, Meagan Nashawaty, Andrea Paal, and Khalida Liaquat will be presenting their poster, “Beyond SMN1: Review of Genotype-Phenotype Correlation in Individuals with ≥4 SMN2 Copy Numbers” (Poster #P271). They performed a literature review of the reported individuals with ≥4 SMN2 copy numbers and the associated treatment for these individuals.

Kailey M. Owens, Jonathon R. Lutz, and Zöe Powis will discuss their poster, “The Utility of Exome Sequencing for Neurodevelopmental Disorders at a Large Reference Laboratory” (Poster #P531). In their retrospective study, the authors compared the test positivity rates of patients with neurodevelopmental disorders having proband, duo and trio diagnostic exome sequencing  to those without neurodevelopmental delay. 

In their poster “Evaluation of population frequency data for mitochondrial variant interpretation” (Poster #P511), Glenn Maston, Pernilla von Nandelstadh, Sari Tuupanen, Izabela Karbassi, and Juha Koskenvuo examined the general population frequency data for a collection of mitochondrial DNA variants and  proposed a model for how to apply frequency information in evaluating the pathogenicity of mitochondrial variants. 

We are excited and appreciate being able to present research and data that adds to the field of genetics and genomic medicine at ACMG. Whether at our posters or our booth (#500), we welcome discussions about our discoveries and developments that will hopefully aid in accurate diagnoses for patients.