IEEE J Biomed Health Inform. 2018 Sep;22(5):1672-1683. doi: 10.1109/JBHI.2017.2778263. Epub 2017 Nov 29.
Genomic data is paving the way towards personalized healthcare. By unveiling genetic disease-contributing factors, genomic data can aid in the detection, diagnosis, and treatment of a wide range of complex diseases. Integrating genomic data into healthcare is riddled with a wide range of challenges spanning social, ethical, legal, educational, economic, and technical aspects. Bioinformatics is a core integration aspect presenting an overwhelming number of unaddressed challenges. In this paper we tackle the fundamental bioinformatics integration concerns including: genomic data generation, storage, representation, and utilization in conjunction with clinical data. We divide the bioinformatics challenges into a series of seven intertwined integration aspects spanning the areas of informatics, knowledge management, and communication. For each aspect, we provide a detailed discussion of the current research directions, outstanding challenges, and possible resolutions. This paper seeks to help narrow the gap between the genomic applications, which are being predominantly utilized in research settings, and the clinical adoption of these applications.
基因组数据正在为个性化医疗铺平道路。通过揭示遗传疾病的致病因素，基因组数据可以帮助检测、诊断和治疗广泛的复杂疾病。将基因组数据整合到医疗保健中存在着一系列社会、伦理、法律、教育、经济和技术方面的挑战。生物信息学是一个核心的整合方面，提出了大量未解决的挑战。在本文中，我们解决了与临床数据一起的基因组数据生成、存储、表示和利用相关的基本生物信息学整合问题。我们将生物信息学挑战分为一系列七个相互交织的整合方面，涵盖信息学、知识管理和通信领域。对于每个方面，我们都详细讨论了当前的研究方向、突出的挑战和可能的解决方案。本文旨在帮助缩小主要用于研究环境的基因组应用与这些应用在临床中的应用之间的差距。
