Quest Diagnostics is committed to staying at the forefront of genetic counseling and advancing the field of genetics through scientific collaboration and research. We are proud to have the work of our genetic counselors highlighted at the 2024 National Society of Genetic Counselors (NSGC) Annual Conference in New Orleans, Louisiana this September. Whether at our posters or at our booth (#319), we welcome discussions about our research, laboratory testing, and emerging technologies in genomics.
Zöe Powis, Jonathon Lutz. Khalida Liaquat, Jyes A Querubin, and Sat Dev Batish will be presenting their poster “Expanding the Phenotype of Extremely Early Onset Juvenile Huntington Disease” to examine a rare subtype of Huntington disease (Poster #PSY401). Genetic counselors are often crucial in the diagnosis of these patients, and we hope increased awareness of extremely early onset juvenile Huntington disease will aid in diagnosis and treatment.
In their poster “The (un)importance of numbers: A proposed change in approach to residual reproductive risk assessment” (Poster #P1383). Julia Wilkinson, Tessa Niemchak, Cheryl Harper, and Trishna Subas review challenges in providing ancestry-based residual carrier risks in the age of expanded carrier screening panels, explore several laboratories’ current residual risk numbers, and propose a new, more equitable approach.
Elaine Weltmer, Whitney Dodge, and Matt Tschirgi review their innovative genetic counseling (GC) student rotation program in their poster “Increasing supply to meet demand: One laboratory’s experience expanding student rotation opportunities” (Poster # EDU160). The poster highlights the evolution and expansion of both content and access of the Quest Diagnostics’ GC student rotation.
The poster “Genetic Testing Symptomatic Patients for Childhood Onset Huntington’s Disease” (Poster #PSY408) from Zöe Powis, Khalida Liaquat, Jonathon Lutz, Marc Meservey, Carol A Hoffman, Kathryn Donohue, and Sat Dev Batish looks at the characteristics and results of patients having genetic testing for Huntington’s disease at a young age.
“Maternal sex chromosome aneuploidy and CNVs as an explanation for non-reportable aneuploidy and microdeletion results on fetal cell-free DNA screening” is a virtual platform presentation by Tessa Niemchak, Lisa Blazejewski, and Trishna Subas. This work looks at over 1400 cases with a single non-reportable analyte on fetal cfDNA screening to determine the impact of chromosomal variation in the pregnant person.
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