NEW YORK (GenomeWeb) – Researchers involved in The Prenatal Assessment of Genomes and Exomes (PAGE) project have selected Congenica's Sapientia platform to handle the variant interpretation as part of a study focused on evaluating the use of exome sequencing for non-invasive prenatal testing.
The PAGE project is a collaboration between the Wellcome Trust Sanger Institute and several fetal medicine centers across the UK that aims to develop an assay that would help researchers better understand the genetic mechanisms involved in fetal abnormalities identified by ultrasound. The project is coordinated by the Birmingham Women's Foundation Trust and the University College Hospital Foundation Trust and supported by funds from the Health Innovation Challenge Fund.
PAGE researchers plan to sequence 1,000 fetal exomes as well as the exomes of the parents, and they plan to do whole-genome sequencing on a smaller group of individuals. They will use Congenica's Sapientia software to analyze the exome data generated as part of the project and try to shed light on how different forms of genetic variation result in structural abnormalies in fetuses and identify those associated with disease. They will use Sapientia to identify, annotate, and visualize copy number and single nucleotide variants in samples, according to Congenica.
Participants in the project will get feedback only on variants in samples that are known to cause structural abnormalities in fetuses. Any ambiguities will be assessed by a clinical review panel.
"PAGE is a research project, and due to current timescales for testing, the results will be made available to women and their partners only after the pregnancy is complete," Congenica COO Nick Lench said in a statement. "As the minimum amount and quality of DNA needed is explored and experience is gained in interpreting the results, the reporting process will get quicker, offering the potential in [the] future to provide a diagnosis early in pregnancy."
In addition to the PAGE project, Congenica's Sapientia is also used to interpret datasets from the UK's 100,000 Genomes Project. The solution is also used in clinical practice by the Central Manchester University Hospitals NHS Foundation Trust's Manchester Centre for Genomic Medicine, to identify mutations associated with various cancers as well as developmental disorders and disabilities.