迎头赶上:第一届西班牙基因组医学会议记录。

IF 1.9 4区 医学 Q4 IMMUNOLOGY
Manuel Corpas, Vicente Soriano, Teresa Perucho, Juan S Rincón-Redondo, Manuel Pérez-Alonso, Juan A G Ranea, Carmen de Mendoza, Federico Morán
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引用次数: 0

摘要

2024 年 5 月 23-24 日,第一届西班牙基因组医学大会在西班牙马德里召开。国际多学科专家齐聚一堂,共同探讨西语世界基因组医学的现状和前景。共有来自拉丁美洲、美国、英国、德国和西班牙的 278 人与会,议题包括罕见病、国家卫生系统(NHS)中的基因组医学、人工智能和商业开发企业。其中一个特别受关注的领域是我们对基因组变异的了解还很粗浅。许多罕见病的诊断仍然需要花费数年的时间,多达50%的病例可能无法确诊。由于人们对基因组的许多内容仍然知之甚少,随着长读测序等新技术的普及和成本的降低,预计目前在基因组参考文献方面存在的差距将会得到改善。然而,国家医疗服务体系内部的差异表明,进步并不一定依赖于资源,而是需要适当的监管和对专业人员的教育途径。这正是英格兰基因组研究中心(Genomics England)可以为常规医疗保健提供临床基因组实施范例的地方。伦理方面的挑战,包括隐私、知情同意、公平、代表性和基因歧视,也需要健全的法律框架和文化敏感的实践。基因组学在西班牙语国家的未来取决于能否解决所有这些问题。通过负责任地应对这些挑战,西语国家可以利用基因组学的力量来改善健康状况,推动科学知识的发展,确保以包容和公平的方式实现个性化医疗的益处。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Playing catching up: Proceedings of the 1st Spanish conference on genomic medicine.

On May 23-24, 2024, the 1st Spanish Conference on Genomic Medicine convened in Madrid, Spain. An international and multidisciplinary group of experts gathered to discuss the current state and prospects of genomic medicine in the Spanish-speaking world. There were 278 attendees from Latin America, US, UK, Germany, and Spain, and the topics covered included rare diseases, genome medicine in national health systems (NHSs), artificial intelligence, and commercial development ventures. One particular area of attention was our still sketchy understanding of genome variants. This is evidenced by the fact that many diagnoses in rare diseases continue to yield odysseys that take years, with up to 50% of cases that may go undiagnosed. Since a lot of the genome remains to poorly understood, as new technologies such as long read sequencing become more ubiquitous and cheaper, it is expected that current gaps in genome references will improve. However, disparities within the NHSs suggest that advancements do not necessarily rely on resources but the appropriate regulation and pathways for education of professionals being properly implemented. This is where Genomics England can be a clinical genomic implementation example for routine health care. Ethical challenges, including privacy, informed consent, equity, representation, and genetic discrimination, also require the need for robust legal frameworks and culturally sensitive practices. The future of genomics in Spanish-speaking countries depends on addressing all of these issues. By navigating these challenges responsibly, Spanish-speaking countries can harness the power of genomics to improve health outcomes and advance scientific knowledge, ensuring that the benefits of personalized medicine are realized in an inclusive and equitable manner.

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来源期刊
AIDS reviews
AIDS reviews 医学-传染病学
CiteScore
3.40
自引率
4.50%
发文量
41
审稿时长
>12 weeks
期刊介绍: AIDS Reviews publishes papers reporting original scientific, clinical, epidemiologic and social research which contribute to the overall knowledge of the field of the acquired immunodeficiency syndrome and human retrovirology. Currently, the Journal publishes review articles (usually by invitation, but spontaneous submitted articles will also be considered). Manuscripts submitted to AIDS Reviews will be accepted on the understanding that the authors have not submitted the paper to another journal or published the material elsewhere.
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