Dijkstra Tetske, Ploem M Corrette, van Langen Irene M, Sieperda Boudien M Y, Zaal Jacoliene, Lucassen Anneke M, Maeckelberghe Els L M, Christiaans Imke
Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Department of Ethics, Law and Medical Humanities, Amsterdam UMC (location AMC) / University of Amsterdam, Amsterdam, the Netherlands.
J Community Genet. 2025 Feb;16(1):73-81. doi: 10.1007/s12687-024-00761-4. Epub 2024 Dec 14.
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population individuals to evaluate their cardiovascular risk based on family health history could be a responsible approach to facilitate early detection and improve public health, but development and use of such a tool is not without legal and ethical requirements. At the start of tool development, experts addressed potential legal and ethical implications. Especially European Union (EU) regulations could present potential obstacles for the tool's development, broader availability and general use. A first example is that the EU General Data Protection Regulation does not allow the tool to collect health data about relatives without their consent; the alternative is data anonymisation. This requirement has major consequences for the tool's usefulness and raises ethical concerns about who 'the owner' is of family data. A second example is related to the EU's Medical Device Regulation: if software generates health risks or provides medical advice, it requires a CE mark from a 'notified body', an extensive and costly procedure. In this article, we describe these implications in more detail and discuss possible solutions. To conclude, alongside national law, European law can impact on the development of digital tools that collect family health data to provide information on health risks. We recommend including experts in law and ethics in developmental stages of such tools which are likely to become more frequent in routine public care.
遗传性和家族性心血管疾病表明,受影响个体的亲属存在早期和可预防心血管事件的风险。一种数字风险预测工具能够让普通人群根据家族健康史评估自己的心血管风险,这可能是促进早期发现和改善公共卫生的一种负责任的方法,但开发和使用这样一种工具并非没有法律和伦理要求。在工具开发之初,专家们探讨了潜在的法律和伦理影响。尤其是欧盟(EU)的法规可能会给该工具的开发、更广泛的可用性和普遍使用带来潜在障碍。第一个例子是,欧盟《通用数据保护条例》不允许该工具在未经亲属同意的情况下收集他们的健康数据;另一种选择是对数据进行匿名化处理。这一要求对该工具的实用性有重大影响,并引发了关于谁是家庭数据“所有者”的伦理问题。第二个例子与欧盟的《医疗器械条例》有关:如果软件产生健康风险或提供医疗建议,它需要获得“公告机构”颁发的CE标志,这是一个繁琐且成本高昂的程序。在本文中,我们将更详细地描述这些影响,并讨论可能的解决方案。总之,除了国内法,欧洲法律也会对收集家庭健康数据以提供健康风险信息的数字工具的开发产生影响。我们建议在这类工具的开发阶段纳入法律和伦理专家参与,这类工具在常规公共医疗中将可能变得更加常见。