Conley John M, Doerr Adam K, Vorhaus Daniel B
University of North Carolina, Chapel Hill, USA.
Health Matrix Clevel. 2010;20(2):325-85.
As scientific understandings of genetics advance, researchers require increasingly rich datasets that combine genomic data from large numbers of individuals with medical and other personal information. Linking individuals' genetic data and personal information precludes anonymity and produces medically significant information--a result not contemplated by the established legal and ethical conventions governing human genomic research. To pursue the next generation of human genomic research and commerce in a responsible fashion, scientists, lawyers, and regulators must address substantial new issues, including researchers' duties with respect to clinically significant data, the challenges to privacy presented by genomic data, the boundary between genomic research and commerce, and the practice of medicine. This Article presents a new model for understanding and addressing these new challenges--a "public genomics" premised on the idea that ethically, legally, and socially responsible genomics research requires openness, not privacy, as its organizing principle. Responsible public genomics combines the data contributed by informed and fully consenting information altruists and the research potential of rich datasets in a genomic commons that is freely and globally available. This Article examines the risks and benefits of this public genomics model in the context of an ambitious genetic research project currently under way--the Personal Genome Project. This Article also (i) demonstrates that large-scale genomic projects are desirable, (ii) evaluates the risks and challenges presented by public genomics research, and (iii) determines that the current legal and regulatory regimes restrict beneficial and responsible scientific inquiry while failing to adequately protect participants. The Article concludes by proposing a modified normative and legal framework that embraces and enables a future of responsible public genomics.
随着对遗传学的科学理解不断进步，研究人员需要越来越丰富的数据集，这些数据集要将大量个体的基因组数据与医学及其他个人信息相结合。将个体的遗传数据和个人信息联系起来就无法保证匿名性，并且会产生具有医学重要性的信息——这一结果是管理人类基因组研究的既定法律和伦理规范所未考虑到的。为了以负责任的方式推进下一代人类基因组研究和商业应用，科学家、律师和监管机构必须应对大量新问题，包括研究人员对具有临床意义的数据所负有的责任、基因组数据对隐私构成的挑战、基因组研究与商业之间的界限以及医学实践。本文提出了一种理解和应对这些新挑战的新模式——“公共基因组学”，其前提是从伦理、法律和社会角度来看，负责任的基因组学研究需要以开放性而非隐私作为其组织原则。负责任的公共基因组学将由充分知情并完全自愿提供信息的利他主义者贡献的数据与基因组公共领域中丰富数据集的研究潜力结合起来，该公共领域可在全球范围内免费获取。本文在当前正在进行的一个雄心勃勃的基因研究项目——个人基因组计划的背景下，审视了这种公共基因组学模式的风险和益处。本文还（i）表明大规模基因组项目是可取的，（ii）评估了公共基因组学研究带来的风险和挑战，以及（iii）认定当前的法律和监管制度在限制有益且负责任的科学探究的同时，未能充分保护参与者。本文最后提出了一个经过修改的规范和法律框架，该框架支持并促成一个负责任的公共基因组学的未来。
