Ghaloul-Gonzalez Lina, Parker Lisa S, Davis Jonathan M, Vockley Jerry
Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Pediatr Res. 2025 Mar;97(4):1393-1398. doi: 10.1038/s41390-025-03869-6. Epub 2025 Jan 22.
Over the past two decades, genomic sequencing (exome and genome) has proven to be critical in providing a faster and more accurate diagnosis as well as tailored treatment plans for a variety of populations. Despite its potential, disparities in access to genomic sequencing persist, predominantly among underrepresented and socioeconomically disadvantaged groups and populations. This inequity stems from factors such as: 1) high costs of sequencing, 2) significant gaps in insurance coverage, 3) limited availability of genetic services in many healthcare institutions and geographic areas, and 4) lack of diversity in genetic research and databases. Addressing these barriers is essential to realizing the full benefits of personalized treatment approaches for all individuals. By doing so, healthcare systems can move towards a more inclusive model that delivers optimal care for everyone. This manuscript emphasizes these issues by considering diverse perspectives from various ethnic groups, summarizing findings across different patient populations (adults, pediatrics, critical/non-critical care), and highlighting the importance of collaboration and workforce training in genomic sequencing and interpretation. IMPACT: Presentation of exemplary studies demonstrating the advantages of genomic sequencing in various clinical settings and a variety of high-risk populations. Review of obstacles in providing equitable genomic medical care and the importance of national and international collaborations An overview of the ethical aspects of genomic sequencing is provided.
在过去二十年中，基因组测序（外显子组和基因组）已被证明对于为各类人群提供更快、更准确的诊断以及量身定制的治疗方案至关重要。尽管基因组测序具有潜力，但在获取测序服务方面仍存在差距，主要存在于代表性不足以及社会经济处于不利地位的群体和人群中。这种不公平源于以下因素：1）测序成本高昂；2）保险覆盖存在重大缺口；3）许多医疗机构和地理区域的基因服务供应有限；4）基因研究和数据库缺乏多样性。消除这些障碍对于让所有个体充分受益于个性化治疗方法至关重要。通过这样做，医疗保健系统可以朝着更具包容性的模式发展，为每个人提供最佳护理。本手稿通过考虑不同种族群体的多样观点、总结不同患者群体（成人、儿科、重症/非重症护理）的研究结果以及强调基因组测序和解读中合作与劳动力培训的重要性，突出了这些问题。影响：展示了示范研究，证明基因组测序在各种临床环境和各类高风险人群中的优势。回顾了提供公平的基因组医疗护理方面的障碍以及国家和国际合作的重要性。提供了基因组测序伦理方面的概述。
