Stephens Michael C, Boardman Lisa A, Lazaridis Konstantinos N
Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN.
Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN.
Mayo Clin Proc. 2017 May;92(5):810-825. doi: 10.1016/j.mayocp.2017.03.002.
After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transformation of medical practice. In this symposium article, we highlight the current knowledge of the genetics of selected gastrointestinal tract and liver diseases, namely, inflammatory bowel disease, hereditary cholestatic liver disease, and familial colon cancer syndromes. In addition, we provide a stepwise approach to use next-generation sequencing methodologies for clinical practice with the goal to improve the diagnosis as well as management of and/or therapy of the chosen digestive diseases. This early experience of applying next-generation sequencing in the practice of gastroenterology and hepatology will delineate future best practices in the field, ultimately for the benefit of our patients.
人类基因组计划完成后，高精度测序核酸（DNA和RNA）的方法发展加速，周转时间不断缩短，成本不断降低。这些方法统称为下一代测序，已经在影响医学实践的变革。在这篇专题文章中，我们重点介绍了某些胃肠道和肝脏疾病的遗传学现状，即炎症性肠病、遗传性胆汁淤积性肝病和家族性结肠癌综合征。此外，我们提供了一种逐步的方法，将下一代测序方法应用于临床实践，目标是改善所选消化系统疾病的诊断、管理和/或治疗。在胃肠病学和肝病学实践中应用下一代测序的这一早期经验将勾勒出该领域未来的最佳实践，最终造福于我们的患者。
