To ensure effective treatment and a timely response, it is important to identify early on whether someone has a condition or is at risk of developing one. This can be done in different ways. For example, through government-led programmes such as newborn blood spot screening, population cancer screening and non-invasive prenatal testing (NIPT). The NIPT, for example, is based on a DNA test.

Such population screening programmes or screenings are carried out on people who have no health complaints. The aim of screening is to detect disease, or for example, a genetic predisposition to a disease that increases the risk of disease. For more information on this and RIVM’s role, see the following webpages:

The use of DNA technology may eventually strengthen screening programmes, for example, by enabling us to predict the presence or absence of a disease more accurately. Additionally, if DNA is broadly mapped, it will be possible to look at multiple locations on the DNA that are associated with the risk of developing a disease. This means that, in the future, a broad DNA test could be used to detect multiple conditions. RIVM stays up to date on these developments and is investigating several specific issues, as described below. This research is not limited to the technologies themselves; it also addresses the question of whether and how we want to use new techniques.

Cancer research

Globally, there is increasing research into the added value of DNA technology for early cancer detection. For example, analysing a person’s DNA (deoxyribonucleic acid) can help determine whether they are at an increased risk of developing cancer. Variants in the BRCA1 or BRCA2 genes that increase the risk of breast cancer are an example of this. In the future, new knowledge may help determine who needs to come in for check-ups more often, or for whom this is less necessary. RIVM has participated in the European project CAN.HEAL. This project has mapped out how DNA tests are currently being used in cancer screening and scientific research in Europe.

Rare conditions in newborns

DNA testing can help with the early detection of diseases. In the Netherlands, newborns are tested for more than 25 serious, rare conditions with newborn blood spot screening. The screening currently mainly looks at the concentrations of certain substances in blood sampled from the heelprick. If a concentration deviates from the norm, this can point to the presence of a condition. In the CRADLE project, RIVM is working with partners in the field to determine whether DNA tests could add value to this screening method. The researchers are looking into the technological, ethical, legal and societal questions raised by the use of DNA tests in newborn blood spot screening.