Pharmacogenomics is rapidly assuming an integral part in modern health care. Still, its broad applicability relies on the feasibility of performing pharmacogenomic testing in all clinical settings, including in remote areas or resource-limited settings with budget restrictions. In this study, we describe the development and feasibility of rapid and reliable pharmacogenomics assays using a portable molecular biology laboratory, namely the 2MoBiL (Mobile Molecular Biology Laboratory). More precisely, we demonstrate that the genotyping of rs4149056, located within SLCO1B1, can be efficiently and reliably performed using the 2MoBiL portable laboratory and conventional benchtop laboratory equipment and a gold standard genotyping method (KASP assay) as directly comparable methodologies. Taking into account the compact size of 2MoBiL, which directly and positively impacts on its portability, and the high accuracy achieved, we conclude that the 2MoBiL-based genotyping method is warranted for further studies in clinical practices at remote areas and resource-limited as well as time-constrained planetary health settings. To contextualize the broader and potential future applications of 2MoBiL, we emphasize that genotyping of a limited set of clinically relevant single-nucleotide polymorphisms is often a common endpoint of genomics and pharmacogenomics discovery and translational research pipeline. Hence, rapid genotyping by 2MoBiL can be an essential catalyst for global implementation of pharmacogenomics and personalized medicine in the clinic. The Clinical Trial Registration number is NCT03093818.

中文翻译：

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在移动分子生物学实验室 (2MoBiL) 中开发快速药物基因组学检测方法

药物基因组学正在迅速成为现代医疗保健不可或缺的一部分。尽管如此，其广泛的适用性取决于在所有临床环境中进行药物基因组学测试的可行性，包括在偏远地区或预算有限的资源有限环境中。在这项研究中，我们描述了使用便携式分子生物学实验室，即 2MoBiL（移动分子生物学实验室）进行快速可靠的药物基因组学检测的开发和可行性。更准确地说，我们证明了 rs4149056 的基因分型，位于SLCO1B1, 可以使用 2MoBiL 便携式实验室和传统台式实验室设备以及金标准基因分型方法 (KASP 检测) 作为直接可比方法高效可靠地执行。考虑到 2MoBiL 的紧凑尺寸，直接和积极地影响其便携性，以及所达到的高精度，我们得出结论，基于 2MoBiL 的基因分型方法有必要在偏远地区和资源有限的临床实践中进一步研究作为受时间限制的行星健康环境。为了将 2MoBiL 的更广泛和潜在的未来应用背景化，我们强调对一组有限的临床相关单核苷酸多态性进行基因分型通常是基因组学和药物基因组学发现和转化研究管道的共同终点。因此，2MoBiL 的快速基因分型可以成为全球实施药物基因组学和临床个性化医疗的重要催化剂。临床试验注册号为 NCT03093818。