Orechia John, Pathak Ameet, Shi Yunling, Nawani Aniket, Belozerov Andrey, Fontes Caitlin, Lakhiani Camille, Jawale Chetan, Patel Chetansharan, Quinn Daniel, Botvinnik Dmitry, Mei Eddie, Cotter Elizabeth, Byleckie James, Ullman-Cullere Mollie, Chhetri Padam, Chalasani Poornima, Karnam Purushotham, Beaudoin Ronald, Sahu Sandeep, Belozerova Yelena, Mathew Jomol P
Dana-Faber Cancer Institute, 450 Brookline Ave., Boston, MA-02215, United States.
Appl Transl Genom. 2015 Sep 14;6:18-25. doi: 10.1016/j.atg.2015.08.005. eCollection 2015 Sep.
We live in the genomic era of medicine, where a patient's genomic/molecular data is becoming increasingly important for disease diagnosis, identification of targeted therapy, and risk assessment for adverse reactions. However, decoding the genomic test results and integrating it with clinical data for retrospective studies and cohort identification for prospective clinical trials is still a challenging task. In order to overcome these barriers, we developed an overarching enterprise informatics framework for translational research and personalized medicine called Synergistic Patient and Research Knowledge Systems (SPARKS) and a suite of tools called Oncology Data Retrieval Systems (OncDRS). OncDRS enables seamless data integration, secure and self-navigated query and extraction of clinical and genomic data from heterogeneous sources. Within a year of release, the system has facilitated more than 1500 research queries and has delivered data for more than 50 research studies.
我们生活在医学的基因组时代，患者的基因组/分子数据对于疾病诊断、靶向治疗识别以及不良反应风险评估正变得越来越重要。然而，解读基因组检测结果并将其与临床数据整合以进行回顾性研究和前瞻性临床试验的队列识别，仍然是一项具有挑战性的任务。为了克服这些障碍，我们开发了一个用于转化研究和个性化医疗的总体企业信息学框架，称为协同患者与研究知识系统（SPARKS），以及一套名为肿瘤学数据检索系统（OncDRS）的工具。OncDRS能够实现无缝数据整合，从异构源安全且自主导航地查询和提取临床及基因组数据。在发布后的一年内，该系统已促成了1500多次研究查询，并为50多项研究提供了数据。
