Elaine R. Mardis, PhD, a pioneer in cancer genomics, received the 2025 Award for Excellence in Molecular Diagnostics from the Association for Molecular Pathology (AMP). The award, the organization’s highest honor, recognizes outstanding scientific and clinical contributions in molecular diagnostics.
After receiving her award from AMP President Jane S. Gibson, PhD, on Thursday morning during the organization’s annual meeting in Boston, Dr. Mardis delivered a keynote lecture on the transformative role of genomics in pediatric precision medicine, highlighting work being done at the Institute for Genomic Medicine at Nationwide Children’s Hospital in Columbus, Ohio. Reflecting on the 25th anniversary of the Human Genome Project, Dr. Mardis emphasized how advances in whole genome and exome sequencing, combined with sophisticated computational analytics, are accelerating diagnosis and treatment for children with rare genetic diseases and critical conditions. Key examples included ultrarapid genome sequencing in neonatal intensive care units, where actionable results can now be returned in just a few days, enabling timely interventions such as personalized gene-targeted therapies. The talk also underscored the importance of collaboration among clinicians, genetic counselors, and researchers in translating genomic discoveries into actionable clinical insights.
In addition to constitutional genetic disorders, Dr. Mardis discussed large-scale initiatives in pediatric cancer, including the Molecular Characterization Initiative (MCI), which integrates genomic, transcriptomic, and methylation data to refine diagnoses, guide therapy, and inform prognosis for thousands of children across the United States and internationally. She highlighted ongoing efforts to integrate machine learning and longitudinal patient data to accelerate discovery and clinical application.
“We need to learn from our data, and that’s really going to require data sharing,” observed Dr. Mardis. “This is what’s really going to fuel [progress]: the ability to integrate data, to develop models of different pediatric diseases, and to then evaluate a [new] patient through our clinical diagnostics pipeline, using machine learning–based diagnostics, so that we can learn from prior patients and apply that to new patients in real time.”
“Part of the scalability is really engaging the community,” she continued. “We need to think as a community about cloud-based distributive access to analytics, tools, and data in a HIPAA-compliant way. This is going to address over time one of the most important aspects that we’ve seen through the MCI, which is disparities in access to this type of advanced diagnostics.”
Dr. Mardis is co-executive director of the Steve and Cindy Rasmussen Institute for Genomic Medicine, holds the Rasmussen Nationwide Foundation Endowed Chair in Genomic Medicine at Nationwide Children’s Hospital, and is professor of pediatrics at the Ohio State University College of Medicine. An internationally recognized expert who has authored more than 550 publications, she co-led the sequencing of the first cancer genome and contributed to major initiatives including the Cancer Genome Atlas and the Pediatric Cancer Genome Project, with current research focused on molecular profiling of pediatric cancers and the tumor immune microenvironment. A former president of the American Association for Cancer Research, Dr. Mardis is an AACR Academy Fellow and a member of the National Academy of Medicine.
Other 2025 award winners being honored at AMP’s annual meeting include Alexis B. Carter, MD, who received the Jeffrey A. Kant Leadership Award for her leadership in clinical molecular pathology; Dara L. Aisner, MD, PhD, and Lawrence J. Jennings, MD, PhD, who received Meritorious Service Awards for their significant contributions and service to the AMP community; and Michael LaPosata, MD, PhD, who received the Champion for Innovation Award for his contributions to the field and for his role as a joint plaintiff in AMP’s successful lawsuit challenging the US Food and Drug Administration’s rule on laboratory-developed test procedure regulation. Those awards will be presented on Friday evening.
