In recent years, there has been tremendous progress in the field of genetics. The use of Next Generation Sequencing (NGS) significantly reduces research costs and becomes more accessible. Before our eyes, a new area in healthcare is emerging – personalized medicine. It enables individualized diagnosis and treatment based on the information contained in the patient’s genome.
Genomed SA, a leader on the Polish market of sequencing services, develops molecular diagnostics based on NGS, successively implementing the latest available technologies, becoming the only provider of genome sequencing and diagnostic analysis services on the Polish market. Thanks to the cooperation agreement concluded with BGI Europe A / S, the European diagnostic department of Beijing Genome Institute (BGI) *, and the technology transfer made in June 2015, the company can perform a non-invasive NIFTY genetic test in its own high-throughput laboratory. TM entirely in Poland. It also obtained exclusivity on the territory of our country as well as Ukraine, Lithuania, Latvia and Estonia. The concluded agreement ensures further cooperation in the development of NIFTATM and other research based on NGS.
– From the beginning, we have been developing DNA sequencing technology. Our diagnostic offer includes over 150 disease entities. We are constantly adding research using NGS technology to our offer. Thanks to the technological transfer, the NIFTY non-invasive genetic prenatal test is also performed in our laboratory. It is not without significance for patients, as we will try to shorten the waiting time for the result and extend the scope of the examination. Detects chromosomal aberrations, in particular trisomes (presence of the third chromosome) 21,18, 13 and XNUMX, i.e. Down, Edwards and Patau syndromes and abnormalities in the number of sex chromosomes, selected microdeletions, and determines the sex of the child. Together with BGI, we will work on the development of the NIFTY study. I am convinced that it is only a matter of time before we extend this non-invasive test in our laboratory towards detecting the risk of developing other genetic diseases. – says dr hab. Anna Boguszewska-Chachulska, President of the Management Board of Genomed SA
— The Company’s investment in the development of genomic technology and the continuation of cooperation with the largest provider of genomic services in the world – BGI – means a constant increase in revenues from NGS services in medical diagnostics. We estimate the revenue from the NIFTY study alone over the next three years at PLN 15 million. Continued cooperation also means introducing new services based on genomic technology. Currently, the only one in Poland and one of the first in the world, we offer preventive genome analysis — says Marek Zagulski, member of the management board of Genomed SA
The technology transfer made means progress in the development of personalized medicine in Poland and in the countries of Central Europe, as well as a significant economic growth. The value of the global market for non-invasive prenatal genetic testing, estimated at $ 530 million in 2013, will reach $ 1,97 billion in 2020.
NIFTYTM is the most commonly performed non-invasive prenatal test in the world and is currently available in 10 European countries. In June this year, the NIFTY testTM obtained the European EC Certificate – Full Quality Assurance, confirming compliance with the requirements of Directive 98/79 / EC regarding medical devices used for diagnostics in vitro.
— This test is non-invasive, early and very sensitive, with a minimal risk of error (less than 0,5%). Normal results give practically the certainty that there are no chromosomal abnormalities and do not require further diagnostics. Confirming it invasive only applies to those forfeits that have an abnormal result. Incorrect results of other non-invasive tests are confirmed by actual defects only in approx. 6%. The performance of NIFTY allows to avoid unnecessary invasive tests in women with genetically healthy offspring. One of the reasons for using this test is that there is a greater percentage of women who decide to become pregnant later in life. Also, the increased awareness of the risk of pregnancies with defects in people with a history of bearing a history or giving birth later causes the desire to clarify the genetic risk as soon as possible and continue to calmly wait for the delivery. – convinces Dr. Grzegorz Południewski, MD, a specialist in gynecology and obstetrics
* Beijing Genome Institute (BGI) is one of the largest genomics centers in the world. It was founded in 1999 with the mission of participating in the Human Genome Project. It is now a leading research partner for the international research community. The task of BGI is to use the developed innovative technologies, based on the experience and knowledge of the best experts in the field of genomics, in order to improve diagnostic methods, make these methods available and develop medical care.
In September 2012, BGI acquired the US leader in NGS technology innovation Complete Genomics for $ 116 million. The technology developed by Complete Genomics, along with other sequencing platforms used by BGI, provides tools that doctors and hospitals can use to diagnose and treat their patients.