疾病分层和靶向预防中的预测性基因组工具:个性化治疗进展的最新更新
Predictive genomic tools in disease stratification and targeted prevention: a recent update in personalized therapy advancements.
作者信息
Jain Neha, Nagaich Upendra, Pandey Manisha, Chellappan Dinesh Kumar, Dua Kamal
机构信息
Department of Pharmaceutics, Amity Institute of Pharmacy, Amity University, Noida, 201303 UP India.
Department of Pharmaceutical Sciences, Central University of Haryana, Mahendergarh, 123031 India.
出版信息
EPMA J. 2022 Nov 12;13(4):561-580. doi: 10.1007/s13167-022-00304-2. eCollection 2022 Dec.
In the current era of medical revolution, genomic testing has guided the healthcare fraternity to develop predictive, preventive, and personalized medicine. Predictive screening involves sequencing a whole genome to comprehensively deliver patient care via enhanced diagnostic sensitivity and specific therapeutic targeting. The best example is the application of whole-exome sequencing when identifying aberrant fetuses with healthy karyotypes and chromosomal microarray analysis in complicated pregnancies. To fit into today's clinical practice needs, experimental system biology like genomic technologies, and system biology viz., the use of artificial intelligence and machine learning is required to be attuned to the development of preventive and personalized medicine. As diagnostic techniques are advancing, the selection of medical intervention can gradually be influenced by a person's genetic composition or the cellular profiling of the affected tissue. Clinical genetic practitioners can learn a lot about several conditions from their distinct facial traits. Current research indicates that in terms of diagnosing syndromes, facial analysis techniques are on par with those of qualified therapists. Employing deep learning and computer vision techniques, the face image assessment software DeepGestalt measures resemblances to numerous of disorders. Biomarkers are essential for diagnostic, prognostic, and selection systems for developing personalized medicine viz. DNA from chromosome 21 is counted in prenatal blood as part of the Down's syndrome biomarker screening. This review is based on a detailed analysis of the scientific literature via a vigilant approach to highlight the applicability of predictive diagnostics for the development of preventive, targeted, personalized medicine for clinical application in the framework of predictive, preventive, and personalized medicine (PPPM/3 PM). Additionally, targeted prevention has also been elaborated in terms of gene-environment interactions and next-generation DNA sequencing. The application of 3 PM has been highlighted by an in-depth analysis of cancer and cardiovascular diseases. The real-time challenges of genome sequencing and personalized medicine have also been discussed.
在当前医学革命的时代,基因组检测已引导医疗界发展预测性、预防性和个性化医学。预测性筛查涉及对整个基因组进行测序,以通过提高诊断敏感性和特定治疗靶向性来全面提供患者护理。最好的例子是在识别核型正常但患有异常的胎儿以及在复杂妊娠中进行染色体微阵列分析时应用全外显子组测序。为了适应当今的临床实践需求,需要将基因组技术等实验系统生物学以及系统生物学,即人工智能和机器学习的应用,与预防性和个性化医学的发展相协调。随着诊断技术的进步,医疗干预的选择可能会逐渐受到一个人的基因组成或受影响组织的细胞特征的影响。临床遗传从业者可以从患者独特的面部特征中了解到很多关于多种病症的信息。目前的研究表明,在诊断综合征方面,面部分析技术与合格治疗师的技术相当。面部图像评估软件DeepGestalt采用深度学习和计算机视觉技术,可测量与多种疾病的相似性。生物标志物对于开发个性化医学的诊断、预后和选择系统至关重要,例如,21号染色体的DNA被计入产前血液中作为唐氏综合征生物标志物筛查的一部分。本综述基于对科学文献的详细分析,通过严谨的方法突出预测性诊断在开发预防性、靶向性、个性化医学以用于预测性、预防性和个性化医学(PPPM/3PM)框架下临床应用的适用性。此外,还从基因-环境相互作用和下一代DNA测序方面阐述了靶向预防。通过对癌症和心血管疾病的深入分析突出了3PM的应用。还讨论了基因组测序和个性化医学的实时挑战。
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