Next Generation Sequencing (NGS) as the newest form of sequencing technique has caused a paradigm shift in many fields of basic and applied science, and is now entering into clinical practice. NGS has changed the way we think about accuracy, sensitivity and trustworthiness of results. Ever since the beginning of its history, sequencing was considered as a reference technique. Now we have an entirely new, extremely capable approach in this technique, that is inevitably becoming a gold standard in molecular biology. INVICTA has been first world wide to employ this revolutionary approach in Assisted Reprodactive Technology clinical practice with its PGS NGS 360 flagship product.
The finest form of next generation sequencing is post-light next generation sequencing. It directly translates genetic code into binary code based on CMOS chips, without any intermediary mechanisms. Every transition is a potential source of not only mistakes, but also delays. Direct systems are always more reliable than the more complex solutions. In post-light NGS, like Ion PGM, one will not find mirrors, lenses, lasers that require constant maintenance and calibrations because of their susceptibility to breakdowns. Unlike in other NGS approaches or aCGH platforms that are based on fluorescence, in post-light NGS no color effects are employed into read-out of genetic code. Post-light system is simple, extremely efficient, and robust against interference or disruption.
PGS NGS 360 uses NGS to obtain a massive amounts of date for every sample. Hundreds of thousands of reads are collected from every chromosome. That’s a stark contrast with aCGH approach in which several tens to hundreds of reads per chromosome is a maximum. The more reads you get from one sample, the less significance is put on each individual read. Even if it is false, it simply cannot influence the entire picture like it is possible in “limited reads per sample” approaches.
PGS NGS utilizes direct sequencing therefore may be combined easily with targeted read-out of any given place on the entire human genome. Aneuploidy testing based on aCGH is always limited to quantitation of chromosomes and additional techniques are needed if patients require, for example, testing for a single gene disease. It is no longer a case in NGS approach where with the same technique many other features (like point mutations, deletions, insertions etc, etc.) of genetic code composition may be revealed.
NGS single technique approach is extremely valuable in preimplantation genetics because it requires only a single biopsy for a comprehensive diagnosis. Utilizing another technique would mean another biopsy which always poses a risk for embryo viability and number of biopsies from given embryo should be reduced as much as possible.
Sequencing has always been a reference technique. All others techniques should be verified and confirmed making them more costly, more time consuming, more arduous for our patients. Post-light sequencing gives us new capabilities and INVICTA is harnessing its power and versatility in the Assisted Reproductive Technology field giving our patients simplicity and trustworthiness.
Discover more about INVICTA Genetic Laboratory during the 31st Congress of the European Society of Human Reproduction and Embryology (ESHRE) in Lisbon, Portugal at Booth E50.