Next Generation sequencing methods. Today’s practice at NGC.
We have worked on it for three years and now our dream has come true. Even though two years ago it seemed impossible, in 2014 it became real and we started using it in 2015. We have brought it into action gradually and consistently.
First, we explored the options of DNA contamination (contamination of DNA samples is particularly important for sequencing) in the process of trophectoderm biopsy. At this point, we developed rules and standards for working with the material for the sequencing required in the future embryology laboratory. This was the beginning of 2015.
Second, we validated the method of NGS, comparing with the routine for us aCGH method (comparative genomic hybridization). We reexamined the samples with already discovered pathology and rechecked by sequencing NGS (Summer-Fall 2015). We are convinced that the sequencing gives us even greater opportunities in the diagnosis of chromosomal pathology during screening for aneuploidy. Currently, we have already received the first Russian instrument for the new generation sequencing MiSeq DX.
Third, We are the first in Russia and former Soviet republics to conduct an examination of embryos with preimplantation genetic screening (PGS) in IFV programs. This special feature, very few people available in the world, has the ability to simultaneously study blastocysts by aCGC and NGS! This is due to the fact that the clinic has a unique opportunity of simultaneously using the equipment to carry out comparative genomic hybridization on a chip scanner for aCGH. This is another opportunity to compare the two methods: routine for us aCGH and the new NGS or MPS, which allowed to determine the benefits of sequencing.
Fourth, we are developing a panel (last stages) to screen for many inherited diseases prevalent in our country that have catastrophic consequences for children and adults. This will allow us to examine not only the carriers of donor oocytes and sperm, but all the couples that are planning to have a healthy child. This opportunity came with the introduction of the new-generation sequencing.
Fifth, we have the possibilities of further development for examination of married couples and embryos in order to exclude many hereditary diseases and predispositions. Maybe soon it include autism, schizophrenia, intellectual impairment, etc.
And now, we are ready to recommend an examination by NGS of every embryo for each family to increase chances of having a healthy baby.