GENOMICS
decision-making in real time. However, the urgency of outbreak response often collides with the structured validation demanded by IVDR. During the pandemic, laboratories had to deploy sequencing at speed, even as regulatory frameworks required evidence of accuracy, reproducibility, and utility. This tension illustrates the broader challenge of aligning public health imperatives with compliance obligations. Going forward, infectious disease sequencing will continue to test the flexibility of regulatory systems, demanding pathways that accommodate both rapid response and patient safety.
Practical strategies for alignment To navigate the IVDR successfully, manufacturers and laboratories must adopt practical, evidence-driven strategies that align with Annex XIII requirements. A modular approach to validation, separating platform performance, pre-analytics, library preparation, sequencing chemistry, and bioinformatics pipeline verification and validation from assay-specific claims, can streamline evidence generation while ensuring that each component is appropriately demonstrated. Bioinformatics validation is
increasingly recognised as an essential element of performance evaluation,
requiring the same level of rigour as wet-laboratory processes, including verification, validation, version control, and justification of reference datasets. Finally, early regulatory engagement, including clarification of intended purpose and performance evaluation strategy, can help ensure alignment with IVDR expectations while maintaining the independence of the conformity assessment process.
Future pathways for NGS-based IVDs Next-generation sequencing is central to the future of diagnostics and precision medicine. The IVDR provides a framework which, if interpreted with balance, can safeguard patients while enabling innovation. Manufacturers, laboratories, and partners therefore must embrace strategies that align cuting-edge science with regulatory principles. By fostering collaboration, transparency, and dialogue, the wider genomics ecosystem can help shape workable pathways under the IVDR. The goal is clear: ensure that patients
benefit from the most advanced technologies without compromising safety or trust. Ultimately the aim is to ensure that scientific progress and regulatory expectations remain aligned, enabling NGS technologies to evolve responsibly
Elizabeth Linch, Senior Technical Specialist and Scheme Manager at BSI, has over a decade of industry and notified body experience, combining her background in NGS assay development and large-scale genomics programmes with extensive IVDR and EMA consultation work to assess innovative IVDs and support their pathway to compliance.
About BSI
As a Notified Body, BSI plays a key role in the conformity assessment process, working with manufacturers across a range of industries. Through independent and impartial assessment against applicable requirements, it enables manufacturers to demonstrate compliance with IVDR. BSI collaborates with a diverse range of clients and partners across multiple industries to help them enhance performance, meet regulatory expectations and achieve their goals. It guides organisations through the complexities of global requirements, supporting them to promote safety and strengthen resilience.
www.bsigroup.com
within a framework that supports quality, reliability, and confidence.
Reference 1 Human Microbiome Project Consortium.
A framework for human microbiome research. Nature. 2012;486(7402):215-221. doi:10.1038/nature11209
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