System for Informatics in the Molecular Pathology Laboratory An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management

作者：Kang Wenjun; Kadri Sabah; Puranik Rutika; Wurst Michelle N; Patil Sushant A; Mujacic Ibro; Benhamed Sonia; Niu Nifang; Zhen Chao Jie; Ameti Bekim; Long Bradley C; Galbo Filipo; Montes David; Iracheta Crystal; Gamboa Venessa L; Lopez Daisy; Yourshaw Michael; Lawrence Carolyn A; Aisner Dara L; Fitzpatrick Carrie; McNerney Megan E; Wang Y Lynn; Andrade Jorge; Volchenboum Samuel L; Furtado Larissa V; Ritterhouse Lauren L; Segal Jeremy P^*

来源：Journal of Molecular Diagnostics, 2018, 20(4): 522-532.

DOI：10.1016/j.jmoldx.2018.03.008

Next-generation sequencing (NGS) diagnostic assays increasingly are becoming the standard of care in oncology practice. As the scale of an NGS laboratory grows, management of these assays requires organizing large amounts of information, including patient data, laboratory processes, genomic data, as well as variant interpretation and reporting. Although several Laboratory Information Systems and/or Laboratory Information Management Systems are commercially available, they may not meet all of the needs of a given Laboratory, in addition to being frequently cost-prohibitive. Herein, we present the System for Informatics in the Molecular Pathology Laboratory (SIMPL), a free and open-source Laboratory Information System/Laboratory Information Management System for academic and nonprofit molecular pathology NGS laboratories, developed at the Genomic and Molecular Pathology Division at the University of Chicago Medicine. SIMPL was designed as a modular end-to-end information system to handle all stages of the NGS laboratory workload from test order to reporting. We describe the features of SIMPL, its clinical validation at University of Chicago Medicine, and its installation and testing within a different academic center laboratory (University of Colorado), and we propose a platform for future community co-development and interlaboratory data sharing.

• 出版日期2018-7