Recent advances in human genomics and the advent of molecular medicine have catapulted our ability to characterize human and health and disease. Scientists and healthcare practitioners can now leverage information on genetic variation and gene expression at the tissue or even individual cell level, and an enormous potential exists to refine diagnostic categories, assess risk in unaffected individuals, and optimize disease management among those affected. This review investigates the progress made in the domains of molecular medicine and genomics as they relate to periodontology. The review summarizes the current evidence of association between genomics and periodontal diseases, including the current state of knowledge that approximately a third of the population variance of periodontitis may be attributable to genetic variation and the management of several monogenic forms of the disease can be augmented by knowledge of the underlying genetic cause. Finally, the paper discusses the potential utility of polygenic risk scores and genetic testing for periodontitis diagnosis now and in the future, in light of applications that currently exist in other areas of medicine and healthcare.

中文翻译：

---

基于基因组学的牙周病诊断的前景和挑战


人类基因组学的最新进展和分子医学的出现提高了我们描述人类、健康和疾病的能力。科学家和医疗保健从业者现在可以利用组织甚至个体细胞水平上的遗传变异和基因表达信息，并且在完善诊断类别、评估未受影响个体的风险以及优化受影响个体的疾病管理方面存在巨大潜力。这篇综述调查了与牙周病学相关的分子医学和基因组学领域取得的进展。该综述总结了基因组学与牙周病之间关联的当前证据，包括目前的知识状况，即大约三分之一的牙周炎群体变异可能归因于遗传变异，并且可以通过以下方法增强对该疾病的几种单基因形式的管理：了解潜在的遗传原因。最后，本文根据目前在其他医学和医疗保健领域的应用，讨论了多基因风险评分和基因检测现在和将来在牙周炎诊断中的潜在效用。