Shaping the Future of Human Genetics: Quest Diagnostics at ASHG 2025

The 2025 American Society of Human Genetics (ASHG) Annual Meeting will take place October 14–18, 2025 in Boston, MA, bringing together researchers, providers, and innovators from around the world who shaping the future of human genetics. Attendees can expect dynamic poster sessions, inspiring plenary lectures, and opportunities to connect across the field of genomics and beyond. Quest Diagnostics is proud to showcase several key studies that reflect our ongoing commitment to advancing genomic science and improving patient care.

• Miao Pan, Pranoot Tanpaiboon and Denise Salazar (Poster 7083T; Thursday, Oct 16, 2:30-4:30 PM) will present “Storage and Stability of Phosphoethanolamine in Urine: Ensuring Reliable Biomarker Detection for Hypophosphatasia”. Their work evaluates biomarker reliability in a challenging diagnostic space, ensuring robust testing for rare metabolic disorders. 

• Prenatal screening in clinical practice: Lisa Blazejewski and Tessa Niemchak (Session 69; Advances in Cell-Free DNA applications from Prenatal Genomics to Cancer Diagnostics; Friday, Oct 17, 10:45-11:45 AM) will share “Performance of Prenatal Cell-free DNA Screening in the Identification of Sex Chromosome Abnormalities: Experience of a Commercial Laboratory.” The poster provides real-world data to help clinicians interpret cfDNA results and guide patient care. 

• Variant interpretation in connective tissue disorders: Coeli Lopes, Gwendolyn Bennett, Alvin Gomez, Felicita Lebron, Michele McCarthy, and Izabela Karbassi (Poster 5007W; Wednesday, Oct 15, 2:30–4:30 PM) will discuss “Glycines in Collagen Genes: Are All Glycine Losses the Same?” By comparing different glycine substitutions, the team uncovers important genotype–phenotype relationships in collagen-related conditions. 

• Fabio Fuligni, Chodon Sass, Christopher Elzinga and Taraneh Angeloni (Poster 9052T; Thursday, Oct 16, 2:30–4:30 PM) will highlight “Evaluation of a Whole Genome Sequencing Approach in a Clinical Context”. Their research demonstrates the clinical utility of WGS, strengthening the case for its adoption in diagnostic workflows.

• Moving beyond CMA with WGS: Peter Bui and Sara South (Poster 4032F; Friday, Oct 17, 2025, 2:30-4:30 PM) collaborated with the Broad CLinical Laboratory, for “Evaluating Whole-Genome Sequencing as a Viable Replacement for Chromosomal Microarray Using the DRAGEN v4.4 Cytogenetics Module.” Their analysis offers compelling evidence for adopting WGS as a first-line diagnostic strategy. 

Together, these studies reflect the commitment of Quest Diagnostics to advancing genomic science and translating research discoveries into meaningful improvements in patient care. From refining rare disease biomarkers to broadening the role of whole-genome sequencing, our contributions highlight the promise of genetics to drive precision medicine forward.