Grant: Genomics and Personalized Health -Large-Scale Applied Genomics Res Projects

The discovery that DNA of fetal origin is present in maternal blood during pregnancy has led to a new genomics-based maternal blood test called non-invasive prenatal screening (NIPS), which is very reliable at screening for Down syndrome. Currently, public healthcare systems pay for this expensive NIPS test only as a second-tier screening for women who have first screened positive on less costly and less accurate biochemical and ultrasound tests. Hence, only after an initial screen has delivered a positive result is NIPS currently used to help women participating in prenatal screening programs avoid a diagnostic amniocentesis. If NIPS were used as the entry-level test for Down syndrome screening, it would benefit women by providing a higher chance of detecting an affected pregnancy and a lower chance of providing a false positive result. It would also enable women to have their final diagnostic result sooner than the current standard of care permits. As well, because NIPS can also detect other fetal chromosome anomalies, its use could enable screening for more conditions. This project aims to provide highquality evidence to inform decisions by health care organisations about using first-tier NIPS to replace traditional screening tests for Down syndrome, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women. We will also study the costeffectiveness of expanding screening to other conditions, and the ethical, social and legal implications of doing so. As well, we will provide strategies for scaling up shared decision making processes between couples and their health care practitioners. Finally, we will further develop the NIPS technology to lower its costs, expand the detection of other anomalies, and ensure the quality control of clinical-grade NIPS testing in Canada and worldwide. While taking into account the values informing couples’ decisions about participation in prenatal screening, this project will enable publicly funded access to a promising genomics technology for all pregnant women in Canada. Further, it will ensure that couples have access to web-based tools to help their decision making, and that all health care professionals are trained in shared decision making for prenatal screening.