基因组新生儿筛查：一场医疗系统的转型

Genomics has revolutionised the diagnosis of rare diseases and is now set to transform prevention through integration with newborn screening programmes. This will identify a broader range of severe, treatable diseases while creating the potential for data reuse across the lifetime. However, for effective population-wide implementation, a shift in the healthcare system to support preventive rather than reactive healthcare will need to occur. In addition, potential harms need to be identified and minimised. This review covers key components of this system shift including parental consent and choice, data workflows and reporting, education, and health-economic impact. Utilising digital technology and global collaboration will be integral to successful evidence generation at scale and to the integration of genomics into public health.