Genomic Medicine: A Critical Review of its Impact on Diagnosing and Treating Genetic Disorders.

IF 3.3 4区 医学 Q2 GENETICS & HEREDITY
Vickram Sundaram, Sindhu Kaviya Rengarajan, Sivasubarmanian Manikandan, Saravanan Anbalagan, Vidhya Lakshmi Sivakumar, Thamarai Packiyam, Hitesh Chopra
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Abstract

Genomic medicine is revolutionizing genetic disease diagnosis and therapy; has a major impact on clinical practice, particularly in diagnosis and treatment. In addition, next-generation sequencing (NGS) has transformed diagnostics. These advances have made genome profiling costeffective and fast, helping us find pathogenic variations that cause a variety of genetic illnesses. Given its influence on diagnostic methods, NGS mutation detection accuracy and reliability must be assessed. In therapeutics, genomic medicine has introduced precision methods. CRISPR-Cas9 gene editing, and new RNA-based therapies are being evaluated for the treatment of genetic mutations Pharmacogenomics' capacity to customize medication regimens to genetic profiles, optimizing therapeutic results while minimizing side effects, is also evaluated. Although genetic medicine has transformational promise, its widespread acceptance is difficult. Obtaining widespread acceptance of genetic medicine is difficult because of worries around ethical implications, privacy problems, and the possibility for genetic information to be misused. Ethics and privacy issues surrounding genetic information usage require considerable thought. Genomic data integration into clinical practice requires robust regulatory frameworks. The influence of NGS technology and precision treatments on genetic disease diagnosis and therapy is significant. This review emphasizes the importance of assessing diagnostic tools, comprehending novel therapy modalities, and addressing ethical and regulatory issues to enable responsible and successful clinical integration.

基因组医学:对遗传疾病诊断和治疗影响的重要回顾。
基因组医学正在彻底改变遗传病的诊断和治疗;对临床实践有重大影响,特别是在诊断和治疗方面。此外,下一代测序(NGS)已经改变了诊断方法。这些进步使得基因组分析成本低廉且快速,帮助我们找到导致各种遗传疾病的致病变异。鉴于其对诊断方法的影响,必须评估NGS突变检测的准确性和可靠性。在治疗学方面,基因组医学引入了精确的方法。CRISPR-Cas9基因编辑和基于rna的新疗法正在评估用于治疗基因突变的药物基因组学根据基因谱定制药物方案、优化治疗结果同时最小化副作用的能力也得到了评估。虽然基因医学有改变的希望,但它很难被广泛接受。由于担心伦理问题、隐私问题和基因信息被滥用的可能性,基因医学很难得到广泛接受。围绕遗传信息使用的伦理和隐私问题需要深思熟虑。将基因组数据整合到临床实践中需要强有力的监管框架。NGS技术和精准治疗对遗传病的诊断和治疗具有重要的影响。这篇综述强调了评估诊断工具、理解新的治疗方式以及解决伦理和监管问题的重要性,以实现负责任和成功的临床整合。
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来源期刊
Current gene therapy
Current gene therapy 医学-遗传学
CiteScore
6.70
自引率
2.80%
发文量
46
期刊介绍: Current Gene Therapy is a bi-monthly peer-reviewed journal aimed at academic and industrial scientists with an interest in major topics concerning basic research and clinical applications of gene and cell therapy of diseases. Cell therapy manuscripts can also include application in diseases when cells have been genetically modified. Current Gene Therapy publishes full-length/mini reviews and original research on the latest developments in gene transfer and gene expression analysis, vector development, cellular genetic engineering, animal models and human clinical applications of gene and cell therapy for the treatment of diseases. Current Gene Therapy publishes reviews and original research containing experimental data on gene and cell therapy. The journal also includes manuscripts on technological advances, ethical and regulatory considerations of gene and cell therapy. Reviews should provide the reader with a comprehensive assessment of any area of experimental biology applied to molecular medicine that is not only of significance within a particular field of gene therapy and cell therapy but also of interest to investigators in other fields. Authors are encouraged to provide their own assessment and vision for future advances. Reviews are also welcome on late breaking discoveries on which substantial literature has not yet been amassed. Such reviews provide a forum for sharply focused topics of recent experimental investigations in gene therapy primarily to make these results accessible to both clinical and basic researchers. Manuscripts containing experimental data should be original data, not previously published.
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