Section of Translational Medical Ethics, National Center for Tumour Diseases, University Hospital Heidelberg, Heidelberg, Germany.
Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
Semin Cancer Biol. 2022 Sep;84:263-270. doi: 10.1016/j.semcancer.2020.09.009. Epub 2020 Oct 9.
Amongst common diseases, cancer is often both a leader in self-regulatory policy, or the field for contentious ethical issues such as the patenting of the BRCA1/2 genes. With the advent of genomic sequencing technologies, achieving precision cancer medicine requires prospective norms due to the large and varied sources of data involved. Here, we discuss the ethical and legal aspects of the policy debate around the relevant topics in precision cancer medicine: the return of incidental findings and sequencing raw data to patients, the communication of genetic results to patients' relatives, privacy and communication risks with concomitant oversight strategies, patient participation and consent models. We present the arguments and empirical data supporting specific policy solutions delineating still contested areas. What type of consent and oversight are required to acquire genomic data or to access it where desired, either by the participant/patient or third-party researchers? Most of the raw sequencing data is still uninterpretable and the variants revealed subject to reinterpretation over time. No doubt the ethical challenges of precision cancer medicine are a prototype of what's to come for other diseases. They are also paradigmatic for regulatory and ethical questions of the translational endeavors since the two worlds - basic science and patient care - are governed by different ethical and legal principles that need to be reconciled in precision cancer medicine.
在常见疾病中,癌症通常是自我监管政策的领导者,或者是专利 BRCA1/2 基因等有争议的伦理问题的领域。随着基因组测序技术的出现,由于涉及大量和多样化的数据来源,实现精准癌症医学需要前瞻性规范。在这里,我们讨论了精准癌症医学中相关主题的政策辩论中的伦理和法律方面:偶然发现和测序原始数据返回给患者、将遗传结果传达给患者亲属、隐私和与伴随监督策略相关的沟通风险、患者参与和同意模式。我们提出了支持特定政策解决方案的论点和经验数据,这些解决方案划定了仍有争议的领域。为了获取基因组数据或在参与者/患者或第三方研究人员希望获取时访问该数据,需要哪种类型的同意和监督?大多数原始测序数据仍然无法解释,并且随着时间的推移揭示的变体需要重新解释。毫无疑问,精准癌症医学的伦理挑战是其他疾病即将面临的挑战的原型。对于转化研究的监管和伦理问题来说,它们也是典范,因为基础科学和患者护理这两个世界受到不同的伦理和法律原则的约束,这些原则需要在精准癌症医学中得到协调。