Chung Claudia Ching Yan, Chu Annie Tsz Wai, Chung Brian Hon Yin
Hong Kong Genome Institute, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Commun Med (Lond). 2025 May 27;5(1):198. doi: 10.1038/s43856-025-00917-4.
Advances in genomic sequencing (GS) have transformed personalised treatment strategies for genetic diseases across a diverse array of clinical indications, resulting in notable public health progress. However, limited evidence on the broader psychosocial and economic impacts hinders its widespread adoption in healthcare systems. The launch of genome projects offers an opportunity to address the unmet needs of a wide range of genetic diseases. This Perspective examines the multi-dimensional effectiveness of GS and summarises indicators and measurement tools for psychosocial and economic outcomes. It highlights priority areas identified by the Clinical Sequencing Exploratory Research Consortium. Drawing on initiatives such as the Genomics England 100,000 Genomes Project and Australian Genomics initiative, this article showcases best practices in selecting outcome measures for assessing the effectiveness of GS in policy and practice. This Perspective intends to equip future studies with a strategic and sustainable approach for outcome-oriented research within genome projects, facilitating evidence-based clinical implementation of GS in an appropriate, equitable and efficient manner.
基因组测序（GS）的进展已经改变了针对各种临床适应症的遗传疾病的个性化治疗策略，在公共卫生方面取得了显著进展。然而，关于更广泛的心理社会和经济影响的证据有限，这阻碍了它在医疗系统中的广泛应用。基因组计划的启动为满足广泛遗传疾病的未满足需求提供了一个机会。本观点文章探讨了GS的多维度有效性，并总结了心理社会和经济结果的指标及测量工具。它突出了临床测序探索性研究联盟确定的优先领域。借鉴英国基因组学10万基因组计划和澳大利亚基因组计划等举措，本文展示了在选择结果指标以评估GS在政策和实践中的有效性方面的最佳做法。本观点文章旨在为未来的研究提供一种战略和可持续的方法，用于基因组计划中以结果为导向的研究，以适当、公平和高效的方式促进GS基于证据的临床应用。
