Next Generation Sequencing (NGS)
Genomed SA was the first in Poland to implement next generation sequencing (NGS) for diagnostics based on pyrosequencing (GS Junior System, Roche), and then, as the first private company in Poland, purchased Personal MiSeq Sequencer from Illumina. During the last few years, Ion Proton sequencers from Thermo Fisher were puchased in order to carry out new tests and projects, based on NGS, and a so-called third generation machine, using bacterial nanopores, Minion (Oxford Nanopore), is being tested. For large scientific or WGS projects we use certified sequencing services’ providers, giving us access to the HiSeq4000, HiSeqXTen (Illumina), Pacific Biosciences or BGISEQ-500 (BGI) machines, depending on project requirements. No personal data are revealed to collaborating sequencing centers and full data confidentiality is granted. All the data analysis is carried out in Genomed using an in house-developed software.
The impact of genome sequencing is still growing, new methods allow to increase the efficiency and reduce costs, which leads to the dynamic development of personal genomics. We are constantly monitoring new innovative solutions in the NGS technology, which has been tested in practice by the Genomed team since 2005. The first sequencer purchased by Genomed used pyrosequencing - one of the most known and proven methods of next generation sequencing. MiSeq Personal Sequencer uses a system of sequencing by synthesis (SBS), which is currently regarded as the most effective and, therefore, is the most popular in the world. BGISeq-500, a novel, high-throughput solution, allowing for a several-fold decrease of whole genome sequencing, is becoming a serious challenge for the Illumina technology. It is powered by DNA Nanoballs and combinatorial Probe-Anchor Synthesis technology.
Next generation sequencing is an essential tool in genetic diagnostics, replacing the existing methods, when it is difficult to determine the genetic background of the disease and when the required analysis includes even individual genes, but composed of a few to several dozens of exons. It is especially useful when we are not able to choose a narrow set of genes and we perform Whole Exome Sequencing (WES) - analysis of the coding part of the genome - which is a more universal tool or even Whole Genome Sequencing (WGS).
From the very beginning our aim is to analyse genomes and provide services based on NGS. In the first years of the company activities, in 2009, Genomed started providing such services to the scientific community. The Genomed team was the first in Poland to sequence a bacterial genome using the NGS technology, while in 2011 the first analyses of patients’ exomes were performed. In the years 2013-2015 whole genomes of 130 successfully aged, healthy, long-lived people were sequenced and analysed by the Genomed team in order to create the Polish genomic reference database, POLGENOM, for applications in personalised medicine (project completed in early 2016).
Genomed SA is the undisputed leader of NGS in Poland and the provider of the most advanced NGS services, including a wide range and complex bioinformatic analysis. The Genomed offer is universal. In the diagnostic section, it includes genetic testing for individual patients, hospitals and clinics, physicians running private practice, centers performing clinical studies. And in its scientific part – it is addressed to the scientific community, pharmaceutical and biotechnology companies.
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