Sethi Prerna, Theodos Kimberly
Department of Health Information Management, Louisiana Tech University, Ruston, LA, USA.
Perspect Health Inf Manag. 2009 Sep 16;6(Fall):1h.
Exponentially growing biological and bioinformatics data sets present a challenge and an opportunity for researchers to contribute to the understanding of the genetic basis of phenotypes. Due to breakthroughs in microarray technology, it is possible to simultaneously monitor the expressions of thousands of genes, and it is imperative that researchers have access to the clinical data to understand the genetics and proteomics of the diseased tissue. This technology could be a landmark in personalized medicine, which will provide storage for clinical and genetic data in electronic health records (EHRs). In this paper, we explore the computational and ethical challenges that emanate from the intersection of bioinformatics and healthcare informatics research. We describe the current situation of the EHR and its capabilities to store clinical and genetic data and then discuss the Genetic Information Nondiscrimination Act. Finally, we posit that the synergy obtained from the collaborative efforts between the genomics, clinical, and healthcare disciplines has potential to enhance and promote faster and more advanced breakthroughs in healthcare.
呈指数级增长的生物学和生物信息学数据集，对研究人员理解表型的遗传基础而言，既是挑战也是机遇。由于微阵列技术的突破，能够同时监测数千个基因的表达，研究人员必须获取临床数据，以了解患病组织的遗传学和蛋白质组学。这项技术可能成为个性化医疗的一个里程碑，它将在电子健康记录（EHR）中存储临床和遗传数据。在本文中，我们探讨了生物信息学与医疗信息学研究交叉产生的计算和伦理挑战。我们描述了EHR的现状及其存储临床和遗传数据的能力，然后讨论了《遗传信息非歧视法案》。最后，我们认为，基因组学、临床和医疗保健学科之间的协同合作，有潜力在医疗保健领域推动更快、更先进的突破。
