GENOMICS
NGS and the IVDR: aligning innovation with regulatory principles
With next-generation sequencing increasingly applied to diagnostics and disease surveillance, this fast-developing technology must also fit into an changing regulatory landscape. Elizabeth Linch examines how NGS fits with Europe’s In Vitro Diagnostic Regulation.
Genomic sequencing has become the central engine of modern precision medicine. Next-generation sequencing (NGS) technologies are transforming oncology, rare disease diagnostics, and infectious disease surveillance by enabling the simultaneous analysis of thousands of genetic variants. Landmark initiatives such as the Human Microbiome Project1 demonstrated the links between human and microbial genomes, paving the way for innovative diagnostics and targeted therapeutics. Yet, as these technologies
advance, they must operate within evolving regulatory frameworks. In Europe, the In Vitro Diagnostic Regulation (IVDR) represents both challenge and opportunity as it seeks to ensure patient safety and quality while striving not to stifle innovation. This article explores how NGS
devices can align with IVDR principles, highlighting the unique complexities they pose while offering strategies for manufacturers, laboratories, and partners to successfully navigate this landscape.
NGS across the diagnostic landscape Next-generation sequencing has become indispensable in clinical practice. For instance, oncology is rich in comprehensive tumour-profiling guides, targeted therapies and immuno- oncology strategies. Likewise, in rare disease diagnostics, whole-exome and whole-genome sequencing uncover elusive genetic causes in small patient populations. Additionally, infectious disease sequencing – from COVID-19 to antimicrobial resistance monitoring – supports outbreak tracing and pandemic preparedness. All in all, the promise of NGS data is clear: deeper, faster, and more actionable insights. But with this promise comes greater regulatory responsibility.
The responsibility of IVD regulatory alignment The IVDR introduces a more stringent framework for in vitro diagnostics, emphasising risk-based classification, robust performance evaluation, and continuous post-market surveillance. For NGS, this alignment requires particular atention. Unlike traditional IVDs, NGS assays generate highly multiplexed genomic outputs and rely on continuously evolving workflows that span pre- analytical steps, wet-laboratory processes and bioinformatics interpretation. Establishing clinical evidence is
NGS has become indispensable in clinical practice, across oncology, rare disease diagnostics, and infectious disease sequencing.
especially challenging when variant prevalence is low, and post market surveillance must account for the
June 2026
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