A Genomics Reporting Problem Patients Should Understand
In this article, Wayne Delport examines a critical issue in consumer genomics and clinical genetic reporting: the omission of Factor V Leiden status from reports that reference “Factor V”–related clotting risk. Using real-world examples, the article highlights how incomplete or ambiguous reporting can mislead patients and create false reassurance around inherited thrombophilia risk.
The piece explains the biological significance of the Factor V Leiden mutation, one of the most well-known inherited genetic risk factors for venous thromboembolism (VTE), deep vein thrombosis (DVT), and pulmonary embolism. It explores how genomic testing platforms, polygenic risk reports, and direct-to-consumer genetic services sometimes fail to clearly distinguish between general coagulation-related findings and clinically actionable pathogenic variants.
The article also discusses broader challenges in genomic interpretation, variant reporting standards, and clinical transparency in precision medicine. It emphasizes the importance of accurate nomenclature, comprehensive variant inclusion, and responsible communication in genetic testing — particularly when reports may influence medical decision-making or patient anxiety.
By addressing the gap between technical genomic data and patient understanding, the article contributes to ongoing discussions around consumer genomics quality standards, digital health ethics, personalized medicine, and AI-assisted healthcare reporting.
Wayne Delport is a bioinformatics and genomics technology leader with more than two decades of experience building scalable computational biology platforms and advancing precision medicine. As Co-Founder and CTO of Simplify Genomics, he leads the development of AI-driven genomic interpretation and search technologies designed to accelerate clinical decision-making and make whole genome data actionable in healthcare. Wayne has authored widely cited research in evolutionary biology, genomics, and computational methods, with thousands of academic citations across his work. His expertise spans cloud-based bioinformatics systems, genomic data infrastructure, and translating complex biological data into practical clinical applications.