Smith Kelly D, MacDonald James W, Li Xianwu, Beirne Emily, Stewart Galen, Bammler Theo K, Akilesh Shreeram
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington.
Department of Environmental and Occupational Health Sciences, University of Washington, Seattle, Washington.
Lab Invest. 2025 Apr 29;105(9):104190. doi: 10.1016/j.labinv.2025.104190.
Spatial transcriptomic profiling enables precise quantification of gene expression with simultaneous localization of expression profiles onto tissue structures. Several implementations of these approaches have been released as commercialized platforms that will allow multiple laboratories to improve our understanding of human disease mechanisms. There is also intense interest in applying these methods in clinical trials or as laboratory-developed tests to aid in the diagnosis of disease. However, before these technologies can be broadly deployed in clinical research and diagnostics, it is necessary to thoroughly understand their performance in real-world conditions. In this study, we vet the technical reproducibility, data normalization methods, and assay sensitivity focusing predominantly on one widely used spatial transcriptomics methodology, digital spatial profiling. We also compare its performance with a single molecular imager, a newer platform with single-cell resolution. Using clinically sourced human kidney tissues and biopsies as exemplars, we find that digital spatial profiling exhibits high rigor and reproducibility. We show that normalization approaches can impact the biological interpretation of spatial transcriptomics data. Although there is good concordance between multicellular and single-cell resolution methods, there are tradeoffs in cost, execution time, and sensitivity of detection, which may affect which approach is chosen. Our study lays a practical foundation for the incorporation of spatial transcriptomics methods into clinical workflows.
空间转录组分析能够精确量化基因表达,同时将表达谱定位到组织结构上。这些方法的几种实施方案已作为商业化平台发布,这将使多个实验室能够增进我们对人类疾病机制的理解。人们也对在临床试验中应用这些方法或将其作为实验室开发的检测手段以辅助疾病诊断有着浓厚兴趣。然而,在这些技术能够广泛应用于临床研究和诊断之前,有必要全面了解它们在实际条件下的性能。在本研究中,我们主要针对一种广泛使用的空间转录组学方法——数字空间分析,审查其技术可重复性、数据归一化方法和检测灵敏度。我们还将其性能与一种单细胞分辨率的新型平台——单分子成像仪进行比较。以临床获取的人类肾脏组织和活检样本为例,我们发现数字空间分析具有高度的严谨性和可重复性。我们表明,归一化方法会影响空间转录组学数据的生物学解释。尽管多细胞和单细胞分辨率方法之间有良好的一致性,但在成本、执行时间和检测灵敏度方面存在权衡,这可能会影响选择哪种方法。我们的研究为将空间转录组学方法纳入临床工作流程奠定了实际基础。