Targeted preconception genetic carrier testing in high-risk groups (WC2013-043)

Targeted preconception genetic carrier testing in high-risk groups


Starting date: 01/10/2013

POM studie: Preconceptioneel dragerschaponderzoek Op Maat

BACKGROUND: Autosomal recessive disorders cause serious morbidity and mortality in at least 25 in 10,000 children. Preconception carrier screening aims to identify carrier couples with a 1-in-4 risk of having an affected child, enabling informed reproductive choices before pregnancy. In the Netherlands, carrier screening for recessive disorders is not current practice. Testing is only available to those with an a priori increased risk due to a positive family history, or via some local initiatives where ancestry-based carrier screening is offered to specific high-risk populations.

New technologies allow simultaneous analyses of carrier status of multiple recessive disorders, potentially changing the screening landscape, but obviously raise new ethical and societal issues. By using a step-wise integrated approach targeting specific high-risk groups, an infrastructure for responsible genetic screening services (potentially even genome-wide) can be developed.

This project addressed the experiences with ancestry-based carrier screening for four specific high-risk populations:
1) A genetically isolated community having high prevalent disorders due to founder effects;
2) Ashkenazi Jewish population (e.g. Tay Sachs disease);
3) People with African, Asian or Mediterranean ancestry (haemoglobinopathies);
4) Caucasian people (cystic fibrosis) (e.g. through the hospital website

AIM: To identify population-specific factors as well as general enabling and constraining ones for its implementation. The results will provide lessons for the further implementation of carrier screening in a changing landscape in the Netherlands.

For results on this project see Publications.

19 October 2017, PhD researcher Kim Holtkamp defended her thesis at VU University: "Implementing carrier screening in a changing landscape 
Perspectives of public and professional stakeholders

Symposium Program