Slavkin H C
Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, 2250 Alcazar Street CSA-103, Los Angeles, CA 90033, USA
J Dent Res. 2014 Jul;93(7 Suppl):3S-6S. doi: 10.1177/0022034514533569. Epub 2014 May 5.
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.
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。