Preimplantation Genetic Diagnostics and Screening
MONDAY, April 10, 09:00-12:00
Anil Biricik, Ph.D., PGD Lab Manager, GENOMA Group, Italy
Joris Vermeesch, Ph.D.Ir, Professor, Human Genetics, Laboratory of Cytogenetics and Genome Research, KU Leuven, Belgium
Tony Gordon, Ph.D., Laboratory Director (UK) and Managing Director (USA), Genesis Genetics
Preimplantation Genetic Screening and Diagnosis offer the chance to avoid serious genetic disorders in our offspring by allowing us to select the most viable embryos for implantation. This short course will discuss the current state of PGS and PGD, latest advances in technologies such as next-generation sequencing, and the challenges we face with mosaic embryos.
9:00 Chairperson’s remarks
9:05 Preimplantation Genetic Diagnosis by Concurrent Haplotyping and Copy Number Profiling
Joris Vermeesch, Ph.D.Ir, Professor, Human Genetics, Laboratory of Cytogenetics and Genome Research, KU Leuven, Belgium
Preimplantation genetic diagnosis by genome wide haplotyping provide a general overview of the embryonal genome and enable the simultaneous detection of multiple variants, mutations and imbalances genome-wide. The introduction in a diagnostic setting raises novel ethical questions. Here we present the principles guiding embryo selection and prioritization that are applied at our center according to the chromosomal content and mutational load of the embryos. Our embryo selection principles are based not only on technical and biological, but also on ethical criteria and have a profound impact on the organization of PGD operations and on the information that is transferred amongst the genetic unit, the fertility clinic and the patients. Those principles are also important for the organization of pre- and post-counselling and influence the way of interpreting and reporting preimplantation genotyping results. As novel genome-wide approaches for embryo selection are revolutionizing the field of reproductive genetics, national and international discussions to set general principles are warranted.
9:35 NGS in Preimplantation Genetic Diagnosis And Its Implications for Mosaicism
Anil Biricik, Ph.D., PGD Lab Manager, GENOMA Group, Italy
NGS is a novel technology that enables us to discover more about the genetic makeup of embryos. However, with this increased data comes increased detection of variants of unknown significance as well as mosaicism, defined as a mixture of both diploid and aneuploidy cell lines. While typically mosaic embryos are not used for implantation, there is much to be learned about the effects of mosaicism on clinical pregnancies and future children. This talk will discuss implementing NGS in a diagnostic lab as well as research related to mosaicism findings in PGS.
10:05 Refreshment break
10:30 The New Technologies Transforming Preimplantation Genetics in the Diagnostic Laboratory
Tony Gordon, Ph.D., Laboratory Director (UK) and Managing Director (USA), Genesis Genetics
As next-generation sequencing becomes more widely used, laboratories must take stock of their current technologies and how they plan on moving forward as these technologies continue to evolve. This talk will discuss the status of current technologies being used in clinical PGS/PGD laboratories as well as explore emerging technologies, their benefits and limitations, and comparisons to current platforms.
11:00 Panel Discussion: Next Steps and Future Directions in PGS and PGD
Joris Vermeesch, Ph.D.Ir, Professor, Human Genetics, Laboratory of Cytogenetics and Genome Research, KU Leuven, Belgium
Anil Biricik, Ph.D., PGD Lab Manager, GENOMA Group, Italy
Tony Gordon, Ph.D., Laboratory Director (UK) and Managing Director (USA), Genesis Genetics
12:00 End of Course