Epigenome-wise: ethical, legal and societal issues of new assays for DNA-methylation in cancer diagnostics and screening


Epigenetics is the study of molecular mechanisms for the regulation of gene expression, such as DNA methylation, that switch genes off or on without altering the DNA sequence. The Building Blocks of Life project ‘Cut out for the future!’ is developing a novel assay (MeD-seq technology) for genome-wide DNA methylation profiling in colon and cervical cancer. This new technology will help to understand the role of DNA-methylation in the pathogenesis of cancer, and may ultimately improve the ability to predict disease progression and treatment outcome in colon and cervical cancer and potentially a variety of other cancers. Due to its unique features epigenetic technology - uncovering potentially modifiable risk factors at high resolution and very low cost - may increase individual autonomy, health and well-being by offering personalised preventive interventions. However, these features also give rise to pressing ethical, legal and societal issues regarding autonomy, informed consent and unsolicited findings, harms & benefits of screening tests, privacy, personal responsibility and solidarity.
Through close cooperation with the BBoL project, we will identify and address ethical, legal and societal issues arising in the early phase of research and development of MeD-seq technology. Moreover, we will anticipate and explore issues that may arise in the future when epigenetic technologies may be introduced into the domain of population screening. We will develop practical guidelines to help investigators, test developers and policy makers to consider these issues in the phase of research & development and in anticipation of its potential implementation in population screening.


Project number


Main applicant

Dr. L.L.E. Bolt

Affiliated with

Erasmus Universiteit Rotterdam, Erasmus MC, Geschiedenis van de Geneeskunde

Team members

Dr. E.M. Bunnik, Dr. E.M. Bunnik, M. Timmers MA


01/09/2018 to 01/04/2020