The incidence of cancer is continuing to rise and risk-tailored early diagnostic and/or primary prevention strategies are urgently required. The ideal risk-predictive test should: integrate the effects of both genetic and nongenetic factors and aim to capture these effects using an approach that is both biologically stable and technically reproducible; derive a score from easily accessible biological samples that acts as a surrogate for the organ in question; and enable the effectiveness of risk-reducing measures to be monitored. Substantial evidence has accumulated suggesting that the epigenome and, in particular, DNA methylation-based tests meet all of these requirements. However, the development and implementation of DNA methylation-based risk-prediction tests poses considerable challenges. In particular, the cell type specificity of DNA methylation and the extensive cellular heterogeneity of the easily accessible surrogate cells that might contain information relevant to less accessible tissues necessitates the use of novel methods in order to account for these confounding issues. Furthermore, the engagement of the scientific community with health-care professionals, policymakers and the public is required in order to identify and address the organizational, ethical, legal, social and economic challenges associated with the routine use of epigenetic testing.

癌症的发病率持续上升，因此迫切需要针对风险量身定制的早期诊断和/或一级预防策略。理想的风险预测测试应：整合遗传因素和非遗传因素的影响，并力求采用生物学上稳定且技术上可重现的方法来捕获这些影响；从易于获取的生物样本中获得分数，作为有关器官的替代物；并能够监控降低风险措施的有效性。大量证据表明，表观基因组，特别是基于DNA甲基化的检测方法满足了所有这些要求。然而，基于DNA甲基化的风险预测测试的开发和实施提出了相当大的挑战。尤其是，DNA甲基化的细胞类型特异性和容易获得的替代细胞的广泛细胞异质性，其中可能包含与难以获得的组织有关的信息，因此有必要使用新颖的方法来解决这些令人困惑的问题。此外，需要科学界与卫生保健专业人员，政策制定者和公众合作，以便确定和应对与常规使用表观遗传测试有关的组织，道德，法律，社会和经济挑战。