Chakrabarty Sanjiban, Kabekkodu Shama Prasada, Brand Angela, Satyamoorthy Kapaettu
School of Life Sciences, Manipal University, Manipal, India.
Public Health Genomics. 2016;19(2):61-8. doi: 10.1159/000442518. Epub 2015 Dec 19.
It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged <5 years and adults aged >60 years enhances our preparedness for any eventualities and future burden of the diseases to society. It is also recognized that current public health practices alone cannot bring about the desired outcome. When tackling public health-related issues, such problems must be recognized and state-of-the-art principles and innovations from genomic sciences, information technologies, and medical specialties must be encompassed and embraced. These will enhance strategies for preparedness and provide us with a better understanding of how to identify, manage, and control disease burdens. The ever expanding landscape of genomics research also includes experimental and computational approaches for effectively utilizing DNA sequence information. From these perspectives, the intricacies of Mendelian single gene disorders are the least challenging compared to intricacies of multi-dimensional host factors for infectious diseases or complex disorders such as cancer. The concepts of public health in India are on firm footing; however, integration of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or our preparedness to prevent eventualities. At the same time, translational genomics is gradually paving the way for personalized medicine. Principles of personalized medicine remain to be fully understood and practiced despite the pharmacogenomics-based future of drug development, and treatment has not been as exciting as the advances in genomics we are witnessing today. The relevance, importance, and translational impediments of these advances will be discussed.
现在全世界都认识到，疾病的预测和预防对人口的健康和健康老龄化具有重大益处。在弱势群体中，如5岁以下儿童和60岁以上成年人中尽早识别疾病，可增强我们应对任何突发事件以及该疾病未来给社会带来的负担的准备。人们还认识到，仅靠当前的公共卫生措施无法带来理想的结果。在解决与公共卫生相关的问题时，必须认识到这些问题，并纳入和采用基因组科学、信息技术和医学专业的最新原则和创新成果。这些将加强应对准备策略，并使我们更好地理解如何识别、管理和控制疾病负担。基因组学研究不断拓展的领域还包括有效利用DNA序列信息的实验和计算方法。从这些角度来看，与传染病或癌症等复杂疾病的多维宿主因素的复杂性相比，孟德尔单基因疾病的复杂性最不具挑战性。印度的公共卫生概念基础坚实；然而，将当代进展融入公共卫生原则的实践中既未得到尝试，也未对疾病负担或我们预防突发事件的准备工作产生影响。与此同时，转化基因组学正在逐步为个性化医疗铺平道路。尽管药物开发以药物基因组学为未来方向，但个性化医疗的原则仍有待充分理解和实践，而且治疗效果尚未像我们今天目睹的基因组学进展那样令人兴奋。将讨论这些进展的相关性、重要性和转化障碍。
