Pihlstrom Bruce L, Barnett Michael L
J Am Dent Assoc. 2016 Mar;147(3):207-13. doi: 10.1016/j.adaj.2015.12.016. Epub 2016 Jan 25.
The rapid pace of biomedical discoveries in the past few years has resulted in substantial advances in our ability to diagnose, treat, and prevent a wide variety of diseases. The sequencing of the human genome offered the possibility of understanding the etiology, pathogenesis, and risk of developing disease from a genetic perspective and has resulted, for example, in the development of genomic-based diagnostic or risk-assessment tests for a number of medical and dental conditions. To assess the scientific evidence underlying such tests and determine whether they may be useful in clinical practice, practitioners need to have a basic understanding of the state-of-the-science of genomics and genetic testing.
To assist practitioners in understanding the science of genomics, the American Dental Association and the Task Force on Design and Analysis in Oral Health Research co-sponsored a landmark conference, Navigating the Sea of Genomic Data, held October 28-29, 2015, at the American Dental Association headquarters building in Chicago, IL. The purpose of this conference was to review the basics of genomic science, promote sound design and analysis of genomic studies of oral diseases, and provide a basis or "framework" to guide practitioners in assessing new development in genomics and genetic tests for oral diseases.
Presentations at this conference were made by 9 world-renowned scientists who discussed a wide range of topics involving genomic science, genetic testing for rare mendelian single gene disorders, and genetic testing for assessing the risk of experiencing common complex diseases. This article summarizes the key points and concepts presented by the speakers.
It is essential for oral health care professionals to have a fundamental understanding of genomic science so that they can evaluate new advances in this field and the use of genetic testing for the benefit of their patients.
在过去几年中,生物医学发现的快速发展使我们在诊断、治疗和预防多种疾病的能力方面取得了重大进展。人类基因组测序提供了从基因角度理解疾病病因、发病机制和患病风险的可能性,例如,已经促成了针对许多医学和牙科疾病的基于基因组的诊断或风险评估测试的开发。为了评估此类测试背后的科学证据并确定它们在临床实践中是否有用,从业者需要对基因组学和基因检测的科学现状有基本的了解。
为帮助从业者理解基因组学科学,美国牙科协会和口腔健康研究设计与分析特别工作组共同主办了一次具有里程碑意义的会议——“驾驭基因组数据之海”,该会议于2015年10月28日至29日在伊利诺伊州芝加哥市的美国牙科协会总部大楼举行。本次会议的目的是回顾基因组科学的基础知识,促进口腔疾病基因组研究的合理设计与分析,并提供一个基础或“框架”,以指导从业者评估口腔疾病基因组学和基因检测的新进展。
本次会议的演讲由9位世界知名科学家进行,他们讨论了广泛的主题,包括基因组科学、罕见孟德尔单基因疾病的基因检测以及评估常见复杂疾病患病风险的基因检测。本文总结了演讲者提出的要点和概念。
口腔保健专业人员必须对基因组科学有基本的了解,以便他们能够评估该领域的新进展以及基因检测对患者的益处。