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PEGASUS-2: Personalized Genomics for Prenatal Abnormalities Screening Using Maternal Blood: Towards first tier screening and beyond

January 23, 2018
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The Genome Canada’s 2017 Large-Scale Applied Research Project (LSARP) Competition will support six innovative projects led or co-led by investigators at BC Children’s Hospital, an agency of the Provincial Health Services Authority, including:

PEGASUS-2: Personalized Genomics for Prenatal Abnormalities Screening Using Maternal Blood: Towards first tier screening and beyond

“Families in Canada should have access to state-of-the-art technology, which allows them to get safer, more reliable results about certain genetic disorders earlier in pregnancy. That’s the goal of the PEGASUS-2 project; I’m working with researchers across Canada to make publicly funded non-invasive prenatal screening an option for all pregnant women.” – Dr. Sylvie Langlois, Investigator, BC Children's; Clinical Geneticist, BC Children’s, BC Women’s; Professor, Department of Medical Genetics, UBC and Medical Director, BC Prenatal Genetic Screening Program.

Non-invasive prenatal screening (NIPS) can accurately detect Down syndrome and other chromosomal abnormalities in the first trimester of pregnancy with a simple blood test. Because of its relatively high cost, NIPS is currently only used on mothers who have already tested positive on a less expensive and less accurate test. The goal of the PEGASUS-2 project is to support the use of NIPS as a first-tier test, giving expectant families publicly-funded access to more accurate screening results, earlier in pregnancy. PEGASUS-2 will:

  • Compare the use of NIPS as a first-tier and second-tier test in a large cohort of pregnant women
  • Study the cost effectiveness and ethical, social and legal implications of expanding NIPs screening to conditions other than Down syndrome
  • Provide strategies to promote shared decision-making between couples and health care professionals
  • Further develop the NIPS technology to reduce its costs by 50 per cent and expand its ability to detect other anomalies, as well as ensuring quality control for clinical NIPS testing in Canada and worldwide
Dr. Langlois leads the project with co-lead Dr. François Rousseau, Université Laval. This project is based at Université Laval.