The earlier collaboration preceded the commercial launch of Agilent’s OneSight software platform, which helps researchers visualize and explore chromosomal and sub-chromosomal aneuploidies in cell-free DNA sequencing data. Over the past few years, interest in cell-free DNA analysis has strongly increased, not only because it can be used to perform non-invasive prenatal testing, but also because cfDNA can be found in liquid biopsies from cancer patients. In addition, recent evidence suggests that cfDNA can be found in an embryo’s blastocoel fluid and culture medium and used for preimplantation genetic screening.
The two teams are also investigating comprehensive solutions for preimplantation genetic testing (PGT), which could enable labs to use a single sequencing workflow to perform preimplantation genetic diagnoses for single gene disorders and translocation carriers, as well as preimplantation genetic screening (PGS) for chromosomal abnormalities on the same embryo biopsy. The PGT development efforts are also supported by a grant from the Flemish government.
The collaborators estimate that a commercial solution for PGT analysis could be ready as early as next year, followed by a more extensive evaluation of the clinical utility of the PGT solution to discriminate between mitotic and meiotic aneuploidies and detect triploidy and uniparental isodisomy in embryo biopsies. These chromosomal abnormalities cannot be accurately detected by the currently available commercial solutions for PGS. It is the ultimate goal to enable the IVF community to reduce the number of IVF cycles and time that are needed to achieve a healthy live birth
Prof. dr. Joris Vermeesch, chair of the Centre for Human Genetics, added, “During the last ten years the laboratory has been developing innovative approaches to analyze single cells, embryos and cell-free DNA. The collaboration with Agilent allows us to make the products user-friendly, speed up the clinical implementation, and reach out worldwide.”
“Agilent is very excited to extend our collaboration with professor Vermeesch, with whom we’ve had a close partnership for the past two years. This is a unique and excellent example of a government-industry-academia partnership designed to translate innovative research into commercial solutions that address unmet needs in the human reproductive genetics space,” said Herman Verrelst, Agilent vice president and general manager of the company’s Genomics and Clinical Applications Division.
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