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Unveiling the Future of Genetics: Key Highlights from Quest Diagnostics Laboratory at ACMG 2024

Quest Diagnostics holds a commitment to advancing the field of genetics. We are proud to have the work of our teams highlighted at the 2024 American College of Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada this March. Whether at our posters or at our booth (#216), we welcome discussions about our laboratory, our testing, and the future of genetics.

You can join Michele Basilere, Erin Nordquist and Elaine Weltmer to review their poster, “Additional Significant Findings in Individuals with Ashkenazi Jewish Founder Variants” (Poster P753). This research represents the importance of investigating beyond the surface in cancer genetic testing, enabling clinicians to tailor treatments more effectively and improve patient outcomes.

Fabio Fuligni, Robert Thaenert, Aiden Hennigan, Duncan Kilburn, Valeriya Gaysinskaya, Guilherme De Sena Brandine, Egor Dolzhenko, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith, Timothy Looney, Narayanan Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga and Meaghan Russell will be presenting their poster, “Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel II Platform” (Poster P223). The introduction of state-of-the-art technology in genetic testing marks a transformative shift in our diagnostic capabilities. Their poster will delve into the technology revolutionizing accurate genetic testing for repeat expansion disorders. With these advancements, we can aid patients in accurate diagnoses and improve patient care.

In their poster, “Myotonic Dystrophy type 1 genetic testing in over 30,000 patients: Does size really matter as we get older?” (Poster P650) Zöe Powis, Khalida Liaquat, Marc Meservey, Judy Z. Louie, and Sat Dev Batish retrospectively analyze the data of our numerous years of testing patients with suspected myotonic dystrophy type 1. This research is a testament to our dedication to making a difference in the lives of those affected by myotonic dystrophy by sharing results of our large data set.

Recalibration of Scoring Metrics to Assess the Pathogenicity of Constitutional Copy Number Variants (CNVs)” (Poster P576), is a poster by Anne W. Higgins, as part of the  ClinGen/ACMG committee revising the microarray classification guidelines. This work refines the interpretation of genetic data, ensuring that CNV classification and reporting is more accurate, clinically relevant, and standardized across all laboratories. These enhancements in analysis are a critical step in reducing diagnostic uncertainties and improving patient care across the industry.

This year, we bring forward a series of pioneering research that not only demonstrates our expertise, but also our dedication to enhancing patient care through innovative genetic testing. It is with excitement and appreciation that we present research adding to the field of genetics and genomic medicine at ACMG.