PCS pilot study
In December 2014 the UMCG awarded €50,000 for a pilot study into the preconception genetic screening of 1000 couples wanting to start a family. The couples will be asked to participate by their family doctor. The pilot study has started in Spring 2016 in the northern Netherlands region and will cover a large number of rare genetic conditions. Press release
The Department of Genetics (UMCG, Groningen) has developed a preconception screening test (PCS) aimed at couples wishing to have a child. The test can detect from the couple's DNA samples whether they have an increased risk of having a child with a severe genetic (autosomal recessive) condition. The PCS test includes 50 very serious, early onset, autosomal recessive diseases that are untreatable. See list of diseases included in the test.
This PCS test will detect an increased risk in approximately 1 per 150 couples, as demonstrated in the Genome of the Netherlands project. These couples have a 1 in 4 chance that their child will have one of the severe conditions being screened for. The couples can, if they wish, avoid having such a child, for example, by using pre-implantation diagnostics (PGD), prenatal diagnostics, or other options. Currently, having a child with a severe autosomal recessive condition occurs completely unexpectedly.
In the Netherlands, PCS has so far only been aimed at high-risk populations, such as the population of Volendam, where they are screened for one or a few conditions, such as cystic fibrosis. The introduction of more affordable, next generation sequencing (NGS) techniques means it is now possible to screen for many risk genes and/or conditions simultaneously.
Project leader: Prof. Irene van Langen
For links to a radio interview and news articles (in Dutch), please switch language flag in top right-hand corner of this webpage.
|Last modified:||07 February 2020 2.58 p.m.|