Suppr超能文献

从表型到基因型:走进基因组学与全球初级卫生保健的变革

From Phenotype to Genotype: Enter Genomics and Transformation of Primary Health Care around the World.

作者信息

Slavkin H C

机构信息

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, 2250 Alcazar Street CSA-103, Los Angeles, CA 90033, USA

出版信息

J Dent Res. 2014 Jul;93(7 Suppl):3S-6S. doi: 10.1177/0022034514533569. Epub 2014 May 5.

Abstract

The progress in phenotype descriptions, measurements, and analyses has been remarkable in the last 50 years. Biomarkers (proteins, carbohydrates, lipids, hormones, various RNAs and cDNAs, microarrays) have been discovered and correlated with diseases and disorders, as well as physiological responses to disease, injury, stress, within blood, urine, and saliva. Three-dimensional digital imaging advanced how we "see" and utilize phenotypes toward diagnosis, treatment, and prognosis. In each example, scientific discovery led to inform clinical health care. In tandem, genetics evolved from Mendelian inheritance (single gene mutations) to include Complex Human Diseases (multiple gene-gene and gene-environment interactions). In addition, epigenetics blossomed with new insights about gene modifiers (e.g., histone and non-histone chromosomal protein methylation, acetylation, sulfation, phosphorylation). We are now at the beginning of a new era using human and microbial whole-genome sequencing to make significant healthcare decisions as to risk, stratification of patients, diagnosis, treatments, and outcomes. Are we as clinicians, scientists, and educators prepared to expand our scope of practice, knowledge base, integration into primary health care (medicine, pharmacy, nursing, and allied health science professions), and clinical approaches to craniofacial-oral-dental health care? The time is now.

摘要

在过去50年里,表型描述、测量和分析方面取得了显著进展。生物标志物(蛋白质、碳水化合物、脂质、激素、各种RNA和cDNA、微阵列)已被发现,并与疾病和病症以及血液、尿液和唾液中对疾病、损伤、压力的生理反应相关联。三维数字成像推动了我们如何“观察”和利用表型进行诊断、治疗和预后评估。在每个例子中,科学发现都为临床医疗保健提供了信息。与此同时,遗传学从孟德尔遗传(单基因突变)发展到包括复杂人类疾病(多个基因-基因和基因-环境相互作用)。此外,表观遗传学随着对基因修饰因子(如组蛋白和非组蛋白染色体蛋白甲基化、乙酰化、硫酸化、磷酸化)的新见解而蓬勃发展。我们现在正处于一个新时代的开端——利用人类和微生物全基因组测序来做出关于风险、患者分层、诊断、治疗和结果的重大医疗决策。作为临床医生、科学家和教育工作者,我们是否准备好扩大我们的实践范围、知识库、融入初级医疗保健(医学、药学、护理和相关健康科学专业)以及颅面-口腔-牙科医疗保健的临床方法?现在正是时候。

相似文献

2
The Era of the Genome and Dental Medicine.基因组时代与口腔医学
J Dent Res. 2019 Aug;98(9):949-955. doi: 10.1177/0022034519845674.
6
Translational genetics: advancing fronts for craniofacial health.转化遗传学:推进颅面健康的前沿领域。
J Dent Res. 2013 Dec;92(12):1058-64. doi: 10.1177/0022034513507954. Epub 2013 Oct 4.
8
Pulling teeth into the genomics era.将拔牙技术带入基因组学时代。
J Am Dent Assoc. 2006 Jun;137(6):710, 712, 714 passim. doi: 10.14219/jada.archive.2006.0271.

本文引用的文献

1
Living with my personal genome.与我的个人基因组共生。
Per Med. 2009 Nov;6(6):607. doi: 10.2217/pme.09.62.
6
First FDA authorization for next-generation sequencer.美国食品药品监督管理局首次批准下一代测序仪。
N Engl J Med. 2013 Dec 19;369(25):2369-71. doi: 10.1056/NEJMp1314561. Epub 2013 Nov 19.
8
Patient stratification for preventive care in dentistry.患者分层在牙科预防保健中的应用。
J Dent Res. 2013 Aug;92(8):694-701. doi: 10.1177/0022034513492336. Epub 2013 Jun 10.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验