Iso Calling: Preparing a Standardization Trial in Computational Genomics

For several decades, Science & Technology Studies (STS) have highlighted the central role of norms and standards in the construction and circulation of technoscientific and biomedical knowledge. However, two blind spots persist: on the one hand, the standardization of bioinformatics practices, essential in contemporary biomedicine, remains underexplored; on the other hand, preparations for standardization trials (tests, evaluations, audits) are rarely studied. This article partially fills these gaps by documenting the preparation for a standardization trial of a bioinformatics pipeline within a Swiss center specialized in computational genomics. Based on a four-month ethnographic study, it analyzes how a team of bioinformaticians compares two software suites-GATK and DRAGEN-for variant calling, as part of their efforts to meet the ISO 15189 standard for quality in biomedical laboratories. The study highlights the strategies implemented to identify, qualify, and negotiate discrepancies between these software tools, highlighting the room for interpretation inherent in bioinformatics standardization processes. The study also offers a broader reflection on the articulation between standardization and preparation in bioinformatics, suggesting that these trials are not limited to technical procedures but also involve creative work in optimization and anticipation. By revealing the dynamics of power, negotiation and adaptation that feed standardization practices in bioinformatics, this analysis contributes to a better understanding of the role of standards in the evolution of biomedical infrastructures that support the implementation of so-called personalized or precision medicine.