Quality management, ethical considerations, and emerging challenges in genomics and biobanking: A comprehensive review

IF 2.9 3区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY Clinica Chimica Acta Pub Date : 2025-01-24 DOI:10.1016/j.cca.2025.120161
Chetan H. Borkhataria , Shweta Sharma , Payal Vaja , Chintankumar Tank , Dhaval Mori , Kalpesh Patel , Ashishkumar Kyada
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Abstract

The integration of genomics into personalized medicine has the potential to transform healthcare by customizing treatments according to individual genetic profiles. This paper examines the diverse applications of genomics, including the identification of disease susceptibility, improvement of diagnostic methods, optimization of drug therapies, and monitoring of treatment responses. It also explores the expanding global market for genetic testing and the increasing implementation of whole-genome sequencing in clinical practice, with a focus on pilot programs that are advancing comprehensive genomic analysis. Despite challenges such as high costs, data interpretation complexities, and ethical concerns, significant efforts are being made to address these issues. Additionally, the creation of biobanks as vital resources for preserving high-quality biosamples and supporting research highlights the critical need for infrastructure development in genomics. By fostering interdisciplinary collaboration and establishing robust ethical and regulatory frameworks, personalized medicine can ensure equitable access to tailored therapies and enhance health outcomes for everyone. This abstract provides an overview of the transformative potential of genomics and personalized medicine in ushering in a new era of precision healthcare.
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基因组学和生物银行的质量管理、伦理考虑和新出现的挑战:全面回顾。
将基因组学整合到个性化医疗中,有可能通过根据个人基因图谱定制治疗来改变医疗保健。本文探讨了基因组学的各种应用,包括疾病易感性的鉴定、诊断方法的改进、药物治疗的优化和治疗反应的监测。它还探讨了不断扩大的全球基因检测市场和全基因组测序在临床实践中的日益实施,重点是推进全面基因组分析的试点项目。尽管存在诸如高成本、数据解释复杂性和道德问题等挑战,但人们正在努力解决这些问题。此外,生物银行的创建作为保存高质量生物样本和支持研究的重要资源,突出了基因组学基础设施发展的迫切需要。通过促进跨学科合作和建立健全的伦理和监管框架,个性化医疗可以确保公平获得量身定制的疗法,并改善每个人的健康结果。本摘要概述了基因组学和个性化医疗的变革潜力,开创了精准医疗的新时代。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Clinica Chimica Acta
Clinica Chimica Acta 医学-医学实验技术
CiteScore
10.10
自引率
2.00%
发文量
1268
审稿时长
23 days
期刊介绍: The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.
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