Population diversity and equity in the genomic era: going global to return to the local.

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-09-05 DOI:10.1007/s12687-023-00669-5
Anahí Ruderman
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引用次数: 1

Abstract

Advances in precision medicine depend on the quantity and quality of available genomic information. Various articles alert about the current disparities between the world's regions regarding the amount of genomic information available and the negative impact this will have on global health. The objective of this paper is to review these articles to describe what aspects they emphasize and highlight some issues that remain to be analyzed from the perspective of a "peripheral" country. Most of these articles come from central countries, where the need for more diversity in genomics is already detected. Several authors analyze lack of human diversity with focus on national, while others analyze the problem from a global perspective. Depending on the country of origin of the research, the claim for greater diversity has different meanings. Broadly, high-income countries advocate for better coverage looking within the boundaries of their own countries. In other regions of the world, where this field of research has not yet been massively developed, the same need for greater inclusiveness of origins in population genomics studies is not detected. An under-analyzed aspect is the unequal starting point between regions regarding the economic resources available for the development of this field of medicine, and for science and health in general. Although this macroeconomic and social aspect is usually absent in scientific analyses, without it solved, it will be impossible to guarantee that all world populations are equally represented in the panels or genomic databases that serve as input for precision medicine development.

基因组时代的人口多样性与公平:走向全球,回归本土。
精准医疗的进步取决于可用基因组信息的数量和质量。有多篇文章提醒人们注意目前世界各地区在基因组信息数量方面存在的差距,以及这种差距将对全球健康产生的负面影响。本文的目的是对这些文章进行综述,描述它们所强调的方面,并从 "边缘 "国家的角度强调一些有待分析的问题。这些文章大多来自中部国家,这些国家已经发现了在基因组学方面需要更多的多样性。有几位作者分析了人类缺乏多样性的问题,重点放在本国,而另一些作者则从全球角度分析了这一问题。根据研究来源国的不同,对提高多样性的要求也有不同的含义。一般来说,高收入国家主张在本国范围内扩大覆盖面。而在这一研究领域尚未得到大规模发展的世界其他地区,在人口基因组学研究中却没有发现对更大的来源包容性的同样需求。一个未得到充分分析的方面是,各地区在发展这一医学领域以及整个科学和卫生领域可利用的经济资源方面起点不平等。虽然在科学分析中通常不涉及这一宏观经济和社会方面的问题,但如果不解决这一问题,就不可能保证世界上所有人口在作为精准医学发展输入的小组或基因组数据库中都具有平等的代表性。
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
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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