Benson Taylor M, Leti Fatjon, DiStefano Johanna K
Department of Biomedical Research, Center for Genes, Environment, and Health, National Jewish Health, 1400 Jackson Street, Denver, CO, 80206, USA.
Translational Genomics Research Institute, 445 N 5th Street, Phoenix, AZ, 85004, USA.
Methods Mol Biol. 2018;1706:39-51. doi: 10.1007/978-1-4939-7471-9_3.
With the advent of next-generation sequencing (NGS) and the demand for a personalized healthcare system, the fields of precision medicine and gene therapy are advancing in new directions. There is a push to identify genes that contribute to disease development, either alone or in conjunction with other genes or environmental factors, and then design targeted therapies based on this knowledge, rather than the traditional approach of treating generalized symptoms with pharmaceuticals in a one-size-fits-all manner. Identification of genes that contribute to disease pathogenesis and progression is critical for the maturation of the precision medicine field. Concomitant with a better understanding of disease pathology, precision medicine approaches can be adopted with greater confidence and are expected to lead to a new standard for clinical practice. In this chapter, we provide a brief introduction to precision medicine, discuss the importance of identifying genes and genetic variants that contribute to disease development and progression, offer examples of approaches that can be applied to treat specific diseases, and present some of the current challenges and limitations of precision medicine.
随着下一代测序（NGS）技术的出现以及对个性化医疗保健系统的需求，精准医学和基因治疗领域正朝着新的方向发展。人们致力于识别单独或与其他基因或环境因素共同导致疾病发展的基因，然后基于这些知识设计靶向治疗方法，而不是采用传统的一刀切式用药物治疗一般症状的方法。识别导致疾病发病机制和进展的基因对于精准医学领域的成熟至关重要。随着对疾病病理学的更好理解，可以更有信心地采用精准医学方法，并且有望引领临床实践的新标准。在本章中，我们简要介绍精准医学，讨论识别导致疾病发展和进展的基因及基因变异的重要性，提供可用于治疗特定疾病的方法示例，并介绍精准医学当前面临的一些挑战和局限性。
