Meier Friedhelm, Ried Jens, Harney Anke, Rhiem Kerstin, Neusser Silke, Neumann Anja, Wasem Jürgen, Schmutzler Rita, Huster Stefan, Dabrock Peter
Lehrstuhl für Systematische Theologie II (Ethik), Friedrich-Alexander-Universität Erlangen-Nürnberg, Kochstraße 6, 91054, Erlangen, Deutschland.
Institut für Sozial- und Gesundheitsrecht, Ruhr-Universität Bochum, Universitätsstr. 150, 44801, Bochum, Deutschland.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 Oct;60(10):1102-1108. doi: 10.1007/s00103-017-2608-8.
Genetic tests can detect the predisposition to various diseases. The demand for gene diagnostics and corresponding prophylactic measures is increasing steadily. In the German healthcare system, however, legal uncertainties exist as to whether a mere risk of disease is reason enough to bear the costs for prophylactic measures. When medically effective prophylactic measures are available in certain cancer diseases, such as in hereditary breast cancer, the current practice of deciding in individual cases appears to be insufficient.The fact that persons with a high or very increased risk of breast cancer are precluded from a standard care procedure raises questions concerning ethical justification as well as medical plausibility. Moreover, it is remarkable that the statutory healthcare system treats persons at risk differently. In some cases there is a regulated way of reimbursement for preventive measures for persons at risk (factor V Leiden mutation) and in other cases there are only case-by-case decisions. Finally, in light of social regulations for persons at high and very increased risk this article considers the need of optimization regarding the risk communication in the decision-making process and the crucial question of budgetary impact for the German healthcare system.From a medical, ethical and legal perspective, a social regulation for persons at high and very increased risk of disease is inevitable and the consequences should be discussed in advance.
基因检测能够检测出对各种疾病的易感性。对基因诊断及相应预防措施的需求正在稳步增长。然而，在德国医疗体系中，对于仅是疾病风险是否足以成为承担预防措施费用的理由，存在法律上的不确定性。当针对某些癌症疾病（如遗传性乳腺癌）有医学上有效的预防措施时，目前个案决定的做法似乎并不充分。乳腺癌高风险或风险大幅增加的人群被排除在标准护理程序之外，这一事实引发了关于伦理合理性以及医学合理性的问题。此外，法定医疗体系对风险人群区别对待也值得关注。在某些情况下，针对风险人群（如凝血因子V Leiden突变）的预防措施有规范的报销方式，而在其他情况下则只是个案决定。最后，鉴于针对高风险和风险大幅增加人群的社会规定，本文考虑了在决策过程中优化风险沟通的必要性以及对德国医疗体系预算影响的关键问题。从医学、伦理和法律角度来看，对疾病高风险和风险大幅增加人群进行社会规定是不可避免的，且应提前讨论其后果。
