Dwivedi Shailendra, Purohit Purvi, Misra Radhieka, Pareek Puneet, Goel Apul, Khattri Sanjay, Pant Kamlesh Kumar, Misra Sanjeev, Sharma Praveen
Department of Biochemistry, All India Institute of Medical Sciences, Jodhpur, 342005 India.
Era's Lucknow Medical College and Hospital, Lucknow, 226003 India.
Indian J Clin Biochem. 2017 Oct;32(4):374-398. doi: 10.1007/s12291-017-0688-8. Epub 2017 Aug 22.
The current advent of molecular technologies together with a multidisciplinary interplay of several fields led to the development of genomics, which concentrates on the detection of pathogenic events at the genome level. The structural and functional genomics approaches have now pinpointed the technical challenge in the exploration of disease-related genes and the recognition of their structural alterations or elucidation of gene function. Various promising technologies and diagnostic applications of structural genomics are currently preparing a large database of disease-genes, genetic alterations etc., by mutation scanning and DNA chip technology. Further the functional genomics also exploring the expression genetics (hybridization-, PCR- and sequence-based technologies), two-hybrid technology, next generation sequencing with Bioinformatics and computational biology. Advances in microarray "chip" technology as microarrays have allowed the parallel analysis of gene expression patterns of thousands of genes simultaneously. Sequence information collected from the genomes of many individuals is leading to the rapid discovery of single nucleotide polymorphisms or SNPs. Further advances of genetic engineering have also revolutionized immunoassay biotechnology via engineering of antibody-encoding genes and the phage display technology. The Biotechnology plays an important role in the development of diagnostic assays in response to an outbreak or critical disease response need. However, there is also need to pinpoint various obstacles and issues related to the commercialization and widespread dispersal of genetic knowledge derived from the exploitation of the biotechnology industry and the development and marketing of diagnostic services. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry. Thus this field is revolutionizing current era and further it may open new vistas in the field of disease management.
当前，分子技术的出现以及多个领域的多学科相互作用催生了基因组学，它专注于在基因组水平上检测致病事件。结构基因组学和功能基因组学方法现已明确了在探索疾病相关基因以及识别其结构改变或阐明基因功能方面的技术挑战。目前，结构基因组学的各种有前景的技术和诊断应用正在通过突变扫描和DNA芯片技术建立一个包含疾病基因、基因改变等的大型数据库。此外，功能基因组学还在探索表达遗传学（基于杂交、PCR和测序的技术）、双杂交技术、结合生物信息学和计算生物学的新一代测序。微阵列“芯片”技术的进步使得微阵列能够同时对数千个基因的表达模式进行平行分析。从许多个体的基因组中收集的序列信息正促使单核苷酸多态性（SNP）的快速发现。基因工程的进一步发展还通过抗体编码基因工程和噬菌体展示技术彻底改变了免疫分析生物技术。生物技术在应对疾病爆发或关键疾病反应需求时的诊断检测开发中发挥着重要作用。然而，也需要明确与生物技术产业开发所产生的遗传知识的商业化和广泛传播以及诊断服务的开发和营销相关的各种障碍和问题。实施用于患者选择的遗传标准以及对治疗风险和益处进行个体评估，成为制药行业面临的一项重大挑战。因此，这一领域正在彻底改变当今时代，并且可能在疾病管理领域开辟新的前景。
