Boccia Stefania, Federici Antonio, Colotto Marco, Villari Paolo
Sezione di igiene, Istituto di sanità pubblica, Università Cattolica del Sacro Cuore.
Epidemiol Prev. 2014 Nov-Dec;38(6 Suppl 2):29-34.
Genomics and related fields are becoming increasingly relevant in health care practice. Italy is the first European country that has a structured policy of Public Health Genomics. Nevertheless, what should be the role of genomics in a public health perspective and how public health professionals should engage with advances in genomics' knowledge and technology, is still not entirely clear.
A description of the regulatory framework made-up by the Italian government in the last years is provided. In order to implement the national guidelines on Public Health Genomics published in 2013, key issues including the ethical, legal and social aspects within an evidence-based framework should be warranted and are herewith discussed.
Genomics and predictive medicine are considered one of the main intervention areas by the National Prevention Plan 2010-2012, and dedicated guidelines were published in 2013. In order to implement such guidelines, we envisage a coordinated effort between stakeholders to guide development in genomic medicine, towards an impact on population health. There is also room to implement knowledge on how genomics can be integrated into health systems in an appropriate and sustainable way. Learning programs are needed to spread knowledge and awareness of genomics technology, in particular on genomic testing for complex diseases.
基因组学及相关领域在医疗保健实践中的相关性日益增强。意大利是首个拥有公共卫生基因组学结构化政策的欧洲国家。然而,从公共卫生角度来看,基因组学应发挥何种作用,以及公共卫生专业人员应如何参与基因组学知识和技术的进步,目前仍不完全明确。
介绍了意大利政府近年来构建的监管框架。为实施2013年发布的公共卫生基因组学国家指南,应确保并在此讨论基于证据框架内的关键问题,包括伦理、法律和社会方面。
基因组学和预测医学被视为《2010 - 2012年国家预防计划》的主要干预领域之一,相关专门指南于2013年发布。为实施这些指南,我们设想利益相关者之间进行协调努力,以指导基因组医学的发展,从而对人群健康产生影响。在如何以适当和可持续的方式将基因组学整合到卫生系统方面,也有实施相关知识的空间。需要开展学习项目,以传播基因组学技术知识和提高对其的认识,特别是关于复杂疾病的基因组检测。