A new technology on genome-wide DNA methylation profiling could improve the ability to predict disease progression and treatment outcomes of cancer, but also raises ethical and legal issues regarding, for example, autonomy, unsolicited findings, and the harms and benefits of screening tests.

The development of epigenomics technologies raises ethical and legal questions surrounding the handling of research participants, samples and data. In the future, epigenomic cancer screening based on blood might become possible. The project will explore the ethical and legal implications of this new technology and determine the conditions for a responsible epigenomic screening programme.

Epigenetic mechanisms determine whether genes are switched ‘on’ or ‘off’. These epigenetic ‘switches’ are spread across the entire DNA molecule and have a strong influence on the functioning of a cell, and thereby also on the development of diseases. In cancer cells certain switches are ‘on’ that are switched off in healthy cells. The link between epigenetics and disease is quite strong: the epigenetic profile of a cell may not only tell whether a person has cancer, but also which type of cancer and at what stage. Epigenetics can therefore be used for improved diagnostics and treatment of different types of cancer, and can also contribute to personalized medicine.

Epigenetics might in the future be used not only for the screening of those who are already ill, but also for the screening of people who are healthy. Abnormal or malignant cells can enter the bloodstream. This means that in the future it might be possible to epigenetically analyse blood to test for all sorts of cancer and pre-stages of cancer.

This NWO-MVI research project is linked to the ‘Building Blocks of Life’ (BBoL) project ‘MeD-seq, a novel assay for genome wide DNA methylation profiling’ that stands under supervision of prof. dr. Joost Gribnau, Erasmus MC. That project develops a new technology with the aim of finding a quick, cheap and reliable way to map the entire epigenetic profile of a cell. This new technology will first be tested on patients with colon and cervical cancer, in order to better predict how these diseases develop, and, for example, to determine whether surgery on the uterus is needed in the case of a divergent Pap test.

Gribnau’s BBoL project, however, raises ethical and juridical questions: Which body material and research data may the researchers use? How to ensure that the data on test subjects is stored securely, and that subjects can be properly informed about research results? How to deal with unsolicited findings? In close collaboration with molecular biologists and test developers, the researchers will identify and address ethical and juridical issues arising in the early phase of research and development of the epigenetic technology.

The new technology to map the entire epigenetic profile of a cell also brings within range the possibility of epigenetic screening. It is important in this stage to ask ourselves what will happen when in the future, for instance, liquid biopsies (blood draws) will be taken from citizens every year or every other year and analysed for different types of cancer. Are citizens interested in having this option? What are their concerns? How does having the option of such a form of screening influence a person’s (perceived) responsibility for his or her own health? The researchers will explore the ethical and legal implications of epigenetic screening, and determine which conditions should in any case be met for responsible epigenetic screening.