{"title":"Genomic Medicine: A Critical Review of its Impact on Diagnosing and Treating Genetic Disorders.","authors":"Vickram Sundaram, Sindhu Kaviya Rengarajan, Sivasubarmanian Manikandan, Saravanan Anbalagan, Vidhya Lakshmi Sivakumar, Thamarai Packiyam, Hitesh Chopra","doi":"10.2174/0115665232389198250711180547","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10798,"journal":{"name":"Current gene therapy","volume":" ","pages":""},"PeriodicalIF":3.3000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current gene therapy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2174/0115665232389198250711180547","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
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.