The William Harvey Research Institute, Bart's and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
J Genet. 2023;102.
With increased technological sophistication and rapidly reducing costs, currently, a huge amount of personal and populationlevel human genomic data and information is generated globally. There is an urgent need for an adequately curated and annotated human genome variant database for successful and large-scale application and translation in biomedical research, medical (healthcare) applications, socio-economic benefits and many other applications. The bulk of the available genomic data is generated from peoples of European descent. The genome data, particularly the human genome variant data is skewed with minimal content from other populations, particularly the minority or diverse populations. It has further contributed to global health inequality, which is visible in inefficiency, lack of effectiveness and disparity in clinical diagnosis, and precision-personalized medicine and preventive healthcare. Inevitably, this gap is widened with ensuing socio-economic implications. This problem is now faced by medical practitioners and healthcare providers in India, South Asia and other low and middle-income countries (LMICs). The current review provides views and critical appraisal of the current status of genomic research, clinical utility and genome variant databases in India and South Asia. A few observations and recommendations are made to ensure harmonization that requires further structured audit and appraisal by the indigenous populations' consortium. Emphasis is made on the urgent need for statutory regulation of genome data generation, storage, and retrieval systems in research and diagnostic genomic laboratories.
随着技术的日益复杂和成本的迅速降低，目前，全球产生了大量的个人和人群水平的人类基因组数据和信息。迫切需要一个经过充分整理和注释的人类基因组变异数据库，以便在生物医学研究、医疗（保健）应用、社会经济利益和许多其他应用中成功和大规模应用和转化。现有的大部分基因组数据是由欧洲血统的人产生的。基因组数据，特别是人类基因组变异数据，存在着来自其他人群（特别是少数民族或多样化人群）的内容极小的偏差。这进一步导致了全球健康不平等，在临床诊断、精准个性化医疗和预防保健方面表现为效率低下、缺乏有效性和差异。不可避免的是，随着社会经济影响的加剧，这一差距进一步扩大。印度、南亚和其他低收入和中等收入国家（LMICs）的医疗从业者和医疗保健提供者现在面临着这个问题。本综述提供了对印度和南亚基因组研究、临床应用和基因组变异数据库现状的观点和批判性评价。提出了一些观察结果和建议，以确保需要由本土人群联盟进行进一步结构化审核和评估的协调一致。强调迫切需要对研究和诊断基因组实验室的基因组数据生成、存储和检索系统进行法规监管。
