Mboowa Gerald, Sserwadda Ivan, Kanyerezi Stephen, Tukwasibwe Stephen, Kidenya Benson
The African Centre of Excellence in Bioinformatics and Data-Intensive Sciences, Infectious Diseases Institute, College of Health Sciences, Makerere University, Kampala, Uganda.
Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
Ann Hum Genet. 2024 Mar 22. doi: 10.1111/ahg.12558.
Equity in access to genomic technologies, resources, and products remains a great challenge. This was evident especially during the coronavirus disease 2019 (COVID-19) pandemic when the majority of lower middle-income countries were unable to achieve at least 10% population vaccination coverage during initial COVID-19 vaccine rollouts, despite the rapid development of those vaccines. Sickle cell disease (SCD) is an inherited monogenic red blood cell disorder that affects hemoglobin, the protein that carries oxygen through the body. Globally, the African continent carries the highest burden of SCD with at least 240,000 children born each year with the disease. SCD has evolved from a treatable to a curable disease. Recently, the UK medical regulator approved its cure through clustered regularly interspaced short palindromic repeat (CRISPR)-based treatment, whereas the US Food and Drug Administration has equally approved two SCD gene therapies. This presents a remarkable opportunity to demonstrate equity in public health genomics. This CRISPR-based treatment is expensive and therefore, a need for an ambitious action to ensure that they are affordable and accessible where they are needed most and stand to save millions of lives.
在获取基因组技术、资源和产品方面实现公平仍然是一项巨大挑战。这一点在2019年冠状病毒病(COVID-19)大流行期间尤为明显,当时大多数中低收入国家在首次推出COVID-19疫苗时,尽管疫苗迅速研发出来,但仍无法实现至少10%的人口疫苗接种覆盖率。镰状细胞病(SCD)是一种遗传性单基因红细胞疾病,会影响血红蛋白,即携带氧气在体内循环的蛋白质。在全球范围内,非洲大陆承担着最高的SCD负担,每年至少有24万名儿童患有这种疾病。SCD已经从一种可治疗的疾病发展成为一种可治愈的疾病。最近,英国医疗监管机构批准了通过基于成簇规律间隔短回文重复序列(CRISPR)的治疗方法来治愈该病,而美国食品药品监督管理局也同样批准了两种SCD基因疗法。这为在公共卫生基因组学领域展示公平性提供了一个显著契机。这种基于CRISPR的治疗方法成本高昂,因此需要采取大胆行动,以确保其在最需要的地方能够负担得起且易于获得,从而有望挽救数百万人的生命。