Beigh Mohammad Muzafar
Senior Research Fellow, National Research Centre for Plant Biotechnology, Indian Agricultural Research Institute, Pusa Road, New Delhi 110012, India.
Medicines (Basel). 2016 Jun 2;3(2):14. doi: 10.3390/medicines3020014.
Humans have predicted the relationship between heredity and diseases for a long time. Only in the beginning of the last century, scientists begin to discover the connotations between different genes and disease phenotypes. Recent trends in next-generation sequencing (NGS) technologies have brought a great momentum in biomedical research that in turn has remarkably augmented our basic understanding of human biology and its associated diseases. State-of-the-art next generation biotechnologies have started making huge strides in our current understanding of mechanisms of various chronic illnesses like cancers, metabolic disorders, neurodegenerative anomalies, . We are experiencing a renaissance in biomedical research primarily driven by next generation biotechnologies like genomics, transcriptomics, proteomics, metabolomics, lipidomics Although genomic discoveries are at the forefront of next generation omics technologies, however, their implementation into clinical arena had been painstakingly slow mainly because of high reaction costs and unavailability of requisite computational tools for large-scale data analysis. However rapid innovations and steadily lowering cost of sequence-based chemistries along with the development of advanced bioinformatics tools have lately prompted launching and implementation of large-scale massively parallel genome sequencing programs in different fields ranging from medical genetics, infectious biology, agriculture sciences . Recent advances in large-scale omics-technologies is bringing healthcare research beyond the traditional "bench to bedside" approach to more of a continuum that will include improvements, in public healthcare and will be primarily based on predictive, preventive, personalized, and participatory medicine approach (P4). Recent large-scale research projects in genetic and infectious disease biology have indicated that massively parallel whole-genome/whole-exome sequencing, transcriptome analysis, and other functional genomic tools can reveal large number of unique functional elements and/or markers that otherwise would be undetected by traditional sequencing methodologies. Therefore, latest trends in the biomedical research is giving birth to the new branch in medicine commonly referred to as personalized and/or precision medicine. Developments in the post-genomic era are believed to completely restructure the present clinical pattern of disease prevention and treatment as well as methods of diagnosis and prognosis. The next important step in the direction of the precision/personalized medicine approach should be its early adoption in clinics for future medical interventions. Consequently, in coming year's next generation biotechnologies will reorient medical practice more towards disease prediction and prevention approaches rather than curing them at later stages of their development and progression, even at wider population level(s) for general public healthcare system.
长期以来,人类一直在预测遗传与疾病之间的关系。直到上世纪初,科学家们才开始发现不同基因与疾病表型之间的内在联系。新一代测序(NGS)技术的最新发展为生物医学研究带来了巨大动力,进而极大地增进了我们对人类生物学及其相关疾病的基本认识。最先进的新一代生物技术已在我们当前对各种慢性疾病(如癌症、代谢紊乱、神经退行性异常等)机制的理解方面取得了巨大进展。我们正经历一场生物医学研究的复兴,这主要由基因组学、转录组学、蛋白质组学、代谢组学、脂质组学等新一代生物技术推动。尽管基因组发现处于新一代组学技术的前沿,然而,它们在临床领域的应用一直非常缓慢,主要原因是反应成本高昂,且缺乏用于大规模数据分析的必要计算工具。不过,基于序列的化学技术的快速创新和成本的稳步降低,以及先进生物信息学工具的发展,最近促使在医学遗传学、感染生物学、农业科学等不同领域启动并实施大规模的大规模平行基因组测序计划。大规模组学技术的最新进展正在将医疗保健研究从传统的“从实验室到床边”方法拓展到更具连续性的模式,这将包括改善公共医疗保健,并将主要基于预测性、预防性、个性化和参与性医学方法(P4)。近期在遗传和传染病生物学方面的大规模研究项目表明,大规模平行全基因组/全外显子组测序、转录组分析和其他功能基因组工具能够揭示大量独特的功能元件和/或标记,而这些是传统测序方法无法检测到的。因此,生物医学研究的最新趋势正在催生医学中的一个新分支,通常称为个性化和/或精准医学。后基因组时代的发展被认为将彻底重塑当前疾病预防和治疗的临床模式以及诊断和预后方法。精准/个性化医学方法的下一个重要步骤应该是在临床中尽早采用,以便用于未来的医疗干预。因此,在未来几年,新一代生物技术将使医疗实践更多地转向疾病预测和预防方法,而不是在疾病发展和进展的后期进行治疗,甚至在更广泛的人群层面用于公共医疗保健系统。