Patient Advocacy and Engagement Advisory Board, Congenica Ltd, Wellcome Genome Campus, Hinxton, CB10 1DR, UK.
Rarebase PBC, 1804 Embarcadero Road, Palo Alto, CA, 94303, USA.
Orphanet J Rare Dis. 2022 May 12;17(1):191. doi: 10.1186/s13023-022-02328-3.
Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases-specifically, rare diseases. However, the application and benefit of such technologies remain inequitable globally. There is a clear and urgent need to provide genomic sequencing to people across the global population, including people living in under-resourced areas and/or underrepresented populations. Financial considerations are the most obvious barriers to the adoption of genomic medicine, yet there are many other factors that are not so obvious, such as geography, language, communication, and culture. Herein, we use the lens of rare diseases and focus on firstly, selected socio-cultural factors, and in particular stigma; and secondly, empowering community factors such as education, advocacy and connectivity amongst people living with rare diseases globally. These are critical areas of need and opportunity if genomic medicine is to achieve equitable and global adoption in the patient best-interest across low- middle- and high-income country health systems. Furthermore, we touch on specific child health aspects and how they can point towards opportunities to build on specific infrastructures.
基因组测序和基因检测的进步正在日益改变疾病的诊断和治疗方式，特别是罕见病。然而，这些技术的应用和益处在全球范围内仍然存在不平等。显然，迫切需要向全球人口提供基因组测序，包括生活在资源匮乏地区和/或代表性不足的人群。经济考虑是采用基因组医学的最明显障碍，但还有许多其他不那么明显的因素，如地理位置、语言、沟通和文化。在此，我们利用罕见病的视角，首先关注特定的社会文化因素，特别是污名化；其次关注赋予全球罕见病患者群体教育、宣传和联系等权力的社区因素。如果基因组医学要在中低收入国家的卫生系统中以符合患者最佳利益的方式实现公平和全球采用，这些都是迫切需要和机会的关键领域。此外，我们还探讨了儿童健康的具体方面，以及它们如何为利用特定基础设施提供机会。
