GeneDx Showcases Groundbreaking Genomic Research at 2025 ACMG Annual Clinical Genetics Meeting
GeneDx, a leader in improving health outcomes through genomic insights, is making significant contributions to the field of genetics at the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting. The company will showcase its advancements in genomic research, including AI-powered innovations and contributions to the understanding of rare diseases, through three platform presentations and two poster presentations.
Industry-Leading AI-Powered Gene Ranker
One of the major highlights of GeneDx’s presentation is its AI-powered gene ranker, which is embedded within its interpretation platform. This cutting-edge tool is designed to enhance the speed and efficiency of clinical analysis, ultimately improving patient care and increasing access to treatment. The gene ranker leverages GeneDx’s extensive proprietary dataset, publicly available clinical data, and artificial intelligence to prioritize genes in exome and genome sequences. These rankings are based on how well the genes align with a patient’s clinical presentation.
Multiscore, the gene ranker powered by AI and real-world clinical data, shows high sensitivity across 10,000 exomes and genomes. The findings will be presented by Vinnie Ustach, PhD, at the ACMG meeting on Thursday, March 20, 2025, at 12:00 pm PT in Meeting Room: Petree Hall D. The platform presentation will focus on the ability of Multiscore to accelerate clinical analysis, reducing both turnaround times and costs, which ultimately enhances the accessibility of care for patients.
RNA Sequencing’s Impact on VUS Resolution
Another significant presentation by GeneDx will cover RNA sequencing and its impact on resolving variants of uncertain significance (VUS) for patients who have undergone exome-based testing for rare diseases. VUS resolution is a critical area in genomic medicine, as identifying the clinical significance of these variants can lead to more accurate diagnoses and tailored treatments.
Melanie Napier, MSc, CGC, CCGC, will present the poster “Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients” on Thursday, March 20 at 12:00 pm PT in the Exhibit Hall Learning Lounge and again on Friday, March 21 at 10:30 am PT at West Exhibit Hall A. The study will highlight the potential of RNA sequencing to aid in VUS resolution, offering a deeper understanding of how this technology can be used to address diagnostic challenges in rare diseases.
GeneDx’s Commitment to Advancing Genomic Medicine
GeneDx’s focus on advancing the utilization of exome and genome testing is evident in its research and strategic collaborations with leading companies. Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx, emphasized the company’s commitment to improving patient care through industry-changing research and innovations in AI technology.
“By investing in cutting-edge research, we are enhancing the speed, accuracy, and impact of genetic insights. This ultimately enables more precise diagnoses, better outcomes for patients, and greater cost efficiency,” said Dr. Kruszka. “At GeneDx, we believe in the power of exome and genome sequencing to transform clinical care and make genomic testing a routine part of healthcare.”
Strong Collaborations in Genomic Research
GeneDx has also formed strategic partnerships with leading genomic research organizations such as PacBio, GUARDIAN, and Seqfirst. Through these collaborations, the company is working to advance the use of exome and genome sequencing as the standard of care in a wide range of clinical settings. These partnerships have allowed GeneDx to build strong evidence for expanding the utilization of genomic testing in pediatric patients and other diverse populations.
In addition to the AI-powered gene ranker and RNA sequencing advancements, GeneDx will present several other important studies at the ACMG meeting:
- “Resolution of Large Complex VNTRs with HiFi Sequencing: Applications in LPA Kringle IV-Type 2 Repeat and D4Z4 Repeat” – presented by Xiao Chen, PhD, on Thursday, March 20 at 12:00 pm PT in Meeting Room: Petree Hall D. This presentation will focus on how HiFi sequencing can resolve large complex variable number tandem repeats (VNTRs), which are often challenging to analyze using traditional sequencing technologies.
- “GUARDIAN Expanded Newborn Screening Study: Early Experiences” – presented by Brenna Boyd, MS, CGC, on Friday, March 21 at 1:30 pm PT in Meeting Room: 501 ABC. This study will present early findings from the GUARDIAN expanded newborn screening program, which aims to identify genetic disorders early in life to enable earlier interventions.
- “Parental Needs During Pediatric Whole Genome Sequencing for Developmental Disorders: An Interview Study” – presented by Priyanka Murali, MS, CGC, on Thursday, March 20 at 10:30 am PT in West Exhibit Hall A. This study will explore the experiences and needs of parents whose children undergo whole genome sequencing for developmental disorders, highlighting the importance of support and counseling during the testing process.
Conclusion
GeneDx’s participation in the 2025 ACMG Annual Clinical Genetics Meeting underscores its ongoing commitment to advancing genomic medicine. By presenting its cutting-edge research and collaborations, the company continues to drive innovation in genetic testing and diagnostics. GeneDx’s contributions to the field of genomic insights are not only improving patient outcomes but are also helping to establish genomic testing as a crucial tool in clinical care. With its AI-powered platforms, RNA sequencing innovations, and strategic partnerships, GeneDx is positioned to remain a leader in the rapidly evolving field of genomics.
About GeneDx:
At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
