$11M for study into non-invasive birth defect tests

Montreal, QC – A team of clinical researchers led by CHU de Québec has received $10.5 million from Génome Québec, Genome Canada, CIHR, Genome Alberta and other partners to recruit 5,600 pregnant women in Canada to study the potential of using DNA sequencing alone or in a contingent model with first trimester serum markers as a non-invasive method for detecting birth defects.

The four marker first trimester serum quadruple screen,1T-Quad (PAPP-A, Free beta hCG, AFP and PIGF) provided by PerkinElmer will be used by researchers to validate its use in a contingent model where women identified by the 1T-Quad screen as having an increased risk of fetal aneuploidy undergo analysis of cell-free circulating fetal DNA from a standard blood draw to better estimate their risk of Down syndrome or other trisomy.

Each year 450,000 Canadian women become pregnant and participate in population-based pre-natal screening. With current approaches, up to 10,000 women undergo amniocentesis, an invasive procedure that carries a risk of pregnancy loss. Using the 1T-Quad screen followed by DNA sequencing of cell free DNA in women found at higher risk on serum screening, researchers aim to increase the detection rate of Down syndrome while reducing the use of amniocentesis to a smaller subset of women, as well as making best use of scarce health care resources.

“Recent data suggests that using the1T-Quad screen to contingently select 10-20% of women at highest risk for non-invasive fetal DNA testing provides a novel way to integrate genomic testing into clinical usage that is both cost-effective and associated with excellent performance” said Dr. Jo-Ann Johnson, one of the principal investigators of the project, from University of Calgary.

Furthermore, Dr. François Rousseau, the project Leader from Université Laval, added that “We are fortunate that PerkinElmer has agreed to join this initiative and offer to evaluate a potentially very effective test for first trimester screening that combines both biochemical blood tests and genomic-based non-invasive assays, with a short turn-around time, which is key in the context of an ongoing pregnancy.”

“This technology used in Dr. Rousseau’s project demonstrates the importance of partnerships between the public and private sectors, particularly in the area of research into personalized medicine. Researchers have to carry out their work in order to meet the patient’s needs, in this case by developing more efficient prenatal screening tests for women’s health,” explains Marc LePage, president and CEO of Génome Québec.