Ethical implications of epigenetics in the era of personalized medicine

Abstract

Given the increasing research activity on epigenetics to monitor human diseases and its connection with lifestyle and environmental expositions, the field of epigenetics has attracted a great deal of interest also at the ethical and societal level. In this review, we will identify and discuss current ethical, legal and social issues of epigenetics research in the context of personalized medicine. The review covers ethical aspects such as how epigenetic information should impact patient autonomy and the ability to generate an intentional and voluntary decision, the measures of data protection related to privacy and confidentiality derived from epigenome studies (e.g., risk of discrimination, patient re-identification and unexpected findings) or the debate in the distribution of responsibilities for health (i.e., personal versus public responsibilities). We pay special attention to the risk of social discrimination and stigmatization as a consequence of inferring information related to lifestyle and environmental exposures potentially contained in epigenetic data. Furthermore, as exposures to the environment and individual habits do not affect all populations equally, the violation of the principle of distributive justice in the access to the benefits of clinical epigenetics is discussed. In this regard, epigenetics represents a great opportunity for the integration of public policy measures aimed to create healthier living environments. Whether these public policies will coexist or, in contrast, compete with strategies reinforcing the personalized medicine interventions needs to be considered. The review ends with a reflection on the main challenges in epigenetic research, some of them in a technical dimension (e.g., assessing causality or establishing reference epigenomes) but also in the ethical and social sphere (e.g., risk to add an epigenetic determinism on top of the current genetic one). In sum, integration into life science investigation of social experiences such as exposure to risk, nutritional habits, prejudice and stigma, is imperative to understand epigenetic variation in disease. This pragmatic approach is required to locate clinical epigenetics out of the experimental laboratories and facilitate its implementation into society.

Keywords: Autonomy; Epigenetics; Ethics; Personalized medicine; Privacy; Responsibility; Social justice; Stigmatization.

Fig. 1

Epigenetic-based biomarkers to monitor human diseases. The effects of lifestyle, environmental exposures (at individual or transgenerational level) or the genetic background, among others, are well-known influencing factors of the epigenome. In spite of the growing number of proposed biomarkers associated with human diseases, some technical limitations need to be solved including the assessment of causality, the establishment of reference epigenomes or the cell-type specificity. On the ethical, political and social dimension a deep discussion on the role of epigenetics as determinants of health and the impact of public health policies and personalized medicine is required

Fig. 2

Ethical, legal and social issues (ELSI) and challenges associated with the use of epigenetic-based biomarkers in the management of human diseases. Specific ELSI considerations on patient autonomy, personal data privacy and confidentiality and personal responsibility are derived from the intrinsic epigenetic characteristics (upper panel). To tackle these ELSI concerns and to favor the implementation of epigenetic-based approaches in medical care some challenges have been identified. On one side, and given the complexity of epigenetic mechanisms, future communication strategies aimed to ensure the understanding of the epigenetic information during medical decision making are strongly recommended (down, left). On the other hand, public policies such as the definition of general laws on data protection, the promotion of equal access to healthy environments and biomedical services to all citizens or the development of educational scientific programs for public but also healthcare professionals are strongly encouraged (down, right). The engagement of the scientific community and health-care professional with policy-decision makers and general public would definitively lead to new biomedical practices and transformative change in health promotion and medical care