Ilkilic I, Wolf M, Paul N W
Institut für Geschichte, Theorie und Ethik der Medizin, Johannes Gutenberg-Universität Mainz, Mainz, Germany.
Gesundheitswesen. 2007 Feb;69(2):53-62. doi: 10.1055/s-2007-971057.
Recent developments in molecular genetics and genomics have not only provided new insights into the biological foundation of life but have also brought about significant changes in the ways health and disease are understood. Nowadays, understanding how the human genome interacts with health-related behaviour and diverse environments is recognised to be the key for biomedical innovation. Even though advances in genetics and genomics have unveiled a whole new complexity of the genetic underpinnings of health and disease and clearly show the need for further investigation, studies of health-related genetic traits already give rise to novel approaches to prevention. As a relatively new fieldPublic Health Genetics is striving for the integration of genetic knowledge into strategies of prevention and for the translation of genomics into novel tools for public health. Translational research in this field is in its very early stages. The rise of public health genetics together with the relative predictive power of genetic information urges us to address the fundamental social, economical and ethical issues of public health genetics. This study analyses the scientific venture points and the larger framework of the implementation of strategies of public health genetics. The applicability of predictive and preventive measures of public health genetics are scrutinised with regard to their effect on both public and individual health. A major focus is on the economical, social and ethical challenges arising from any implementation of public health genetics. The guiding principle of our analysis is the (improvement of) social achievability of health as a measure for successful innovation of health care and prevention.
分子遗传学和基因组学的最新进展不仅为生命的生物学基础提供了新的见解，也给人们理解健康与疾病的方式带来了重大变化。如今，了解人类基因组如何与健康相关行为及多样的环境相互作用被认为是生物医学创新的关键。尽管遗传学和基因组学的进展揭示了健康与疾病遗传基础的全新复杂性，并清楚地表明有进一步研究的必要，但对与健康相关的遗传特征的研究已经催生出新的预防方法。作为一个相对较新的领域，公共卫生遗传学正在努力将遗传知识融入预防策略，并将基因组学转化为公共卫生的新工具。该领域的转化研究尚处于非常早期的阶段。公共卫生遗传学的兴起以及遗传信息的相对预测能力促使我们去解决公共卫生遗传学的基本社会、经济和伦理问题。本研究分析了公共卫生遗传学策略实施的科学风险点和更大框架。对公共卫生遗传学预测和预防措施在公共健康和个体健康方面的适用性进行了审查。主要关注点是公共卫生遗传学任何实施所引发的经济、社会和伦理挑战。我们分析的指导原则是以健康的社会可实现性（的提高）作为衡量医疗保健和预防成功创新的标准。
