In a groundbreaking development within the realm of genomic medicine, Pankhuri Gupta, MS, CGC, a Research Genetic Counselor at the University of Washington, has been honored with the prestigious 2026 Richard King Trainee Award by the ACMG Foundation for Genetic and Genomic Medicine. This accolade, bestowed annually, recognizes exemplary trainees in medical genetics and genetic counseling who contribute superior quality research to the Genetics in Medicine journal, the official publication of the American College of Medical Genetics and Genomics (ACMG). Gupta’s award-winning article, “Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications,” highlights critical deficiencies in how genomic variants’ information is reported and updated in clinical settings.
Genetic variants of uncertain significance (VUS) represent a significant clinical challenge because their ambiguous nature complicates decision-making in personalized medicine. Gupta’s work, conducted in the laboratory of Dr. Andrew Stergachis, meticulously details the workflows involved in variant reclassification — the process wherein new evidence may qualify a previously uncertain variant as either pathogenic or benign. The research unveiled that at least 1.6% of variant classifications recorded in electronic health records (EHRs) for real-world clinical care were outdated when compared to the current standards cataloged in the authoritative ClinVar database. This discrepancy underscores the urgent need for dynamic and accurate genomics data management to avoid misinforming patient care pathways.
The study leverages large-scale clinical variant databases, including the Brotman Baty Institute Clinical Variant Database, comprising genomic data from over 8,000 patients. Gupta’s leadership in variant reclassification efforts directly informs the clinical interpretation pipelines, ensuring that patients receive the most precise and up-to-date genomics information. By integrating functional datasets and developing educational modules to improve the application of functional evidence, Gupta has positioned her research at the nexus of computational genomics, bioinformatics, and translational medicine, which is essential for bridging laboratory discoveries with clinical implementation.
Gupta’s research trajectory reflects a keen focus on harnessing state-of-the-art technologies such as long-read sequencing—a high-resolution genomic technique capable of spanning complex regions of the genome that short-read methodologies cannot adequately resolve. During her tenure with the Career Ladder Education Program for Genetic Counseling through the Warren Alpert Foundation, she spearheaded a multi-site national investigation under the guidance of Danny Miller, MD, PhD, that evaluated the clinical utility of whole-genome long-read sequencing in diagnosing pediatric genetic disorders. These studies collectively advance the scientific understanding required to tailor patient diagnoses and therapy plans.
Precision medicine hinges on the accurate interpretation of genetic variants to predict disease susceptibility, inform prognosis, and guide targeted therapies. The nuances of variant interpretation are continuously evolving as functional studies shed light on genomic sequences previously classified with uncertainty. Gupta’s research addresses not only the scientific aspects but also the procedural challenges in disseminating updates from research-based variant reclassifications into clinical practice. Her efforts include organizing workshops and serving as an advocate for integrating functional data into variant pathogenicity assessments, which enhances transparency and consistency across clinical laboratories.
The implications of Gupta’s findings extend beyond the laboratory and clinical genetics units to the broader healthcare ecosystem. Electronic health records serve as the primary repositories for patient genomic data, yet findings from her research reveal systemic lags in updating variant classifications, potentially leading to clinical decision errors. The gap between emerging genomic knowledge and its reflection in clinical databases can result in either unnecessary interventions or missed opportunities for preventative care. Addressing this disconnect is crucial for the scalability and fidelity of genomic medicine.
Gupta’s role on the Advisory Board of the University of Washington Genetic Counseling Graduate Program illustrates her commitment to shaping the future generation of genetic counselors. By mentoring students and providing guidance on training curricula, she cultivates a workforce adept at navigating the evolving landscape of genomic data interpretation. This forward-thinking approach ensures that the clinical genetics community remains equipped to interpret an ever-expanding reservoir of genomic information with precision and ethical consideration.
The Richard King Trainee Award, named in honor of the founding editor-in-chief of Genetics in Medicine, Dr. Richard King, symbolizes excellence in trainee contributions to the field. According to Dr. Robert D. Steiner, editor-in-chief of Genetics in Medicine, Gupta’s manuscript stood out among numerous commendable submissions due to its scientific rigor and relevance. The recognition empowers not only the recipient but also highlights the critical need for continual training and innovation in genomic data analysis.
As the ACMG Foundation continues to promote advancements in medical genetics through philanthropic support, the synergy between research excellence and clinical application exemplified by Gupta’s work is emblematic of the future of personalized medicine. The American College of Medical Genetics and Genomics, established in 1991, uniquely unites diverse facets of genetics expertise to champion improved patient outcomes through education, resource development, and advocacy. Its journals, Genetics in Medicine and Genetics in Medicine Open, serve as vital dissemination channels for pioneering research like Gupta’s.
One of the most pressing challenges in modern genomics is ensuring the timely and accurate updating of variant classifications to reflect the rapidly shifting landscape of genetic knowledge. Gupta’s contributions precisely confront this challenge by identifying systematic lapses and proposing solutions that integrate functional evidence to refine interpretation protocols. These methodologies are critical for advancing genomic medicine from a static knowledge base to a dynamic, patient-centered clinical tool.
The continued integration of novel sequencing technologies, robust variant interpretation frameworks, and comprehensive data-sharing initiatives forms the backbone of contemporary genomic healthcare. Gupta’s work is a testament to the collaborative efforts necessary to translate high-throughput data into meaningful clinical action. The pathways she has developed and improved promise greater clarity in variant significance determinations, thereby reducing uncertainty for patients and clinicians alike.
The ACMG Foundation’s support for innovative research training exemplifies the importance of nurturing talent that can bridge computational genomics, molecular biology, and clinical application. Gupta’s recognition as the Richard King Trainee Award recipient solidifies her position as a thought leader in enhancing the fidelity and utility of genetic variant interpretation in the age of precision medicine.
Subject of Research: Systematic gaps in the reporting and reclassification of genetic variants of uncertain significance in clinical genomics and their impact on medical decision-making.
Article Title: “Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications”
News Publication Date: February 23, 2026
Web References:
– ACMG Foundation: https://www.acmgfoundation.org/
– American College of Medical Genetics and Genomics: https://www.acmg.net/
– Genetics in Medicine journal: https://doi.org/10.1016/j.gim.2025.101501
Image Credits: ACMG Foundation
Keywords: Genetics, Genomic Medicine, Variant Interpretation, Variants of Uncertain Significance (VUS), Long-Read Sequencing, Clinical Genomics, Precision Medicine, Genetic Counseling, Electronic Health Records, Functional Evidence, Variant Reclassification, Translational Genomics
