Thermo Fisher Scientific has joined forces with First Genetics JCS to commercialize next-generation sequencing (NGS) diagnostics in Russia. The agreement allows Moscow-based First Genetics to bring its F-Genetics NGS system and in vitro diagnostic assays for reproductive health testing to Russian labs.

Carlsbad, Calif.-based Thermo Fisher produces instruments and assay components that First Genetics assembles in Russia. The F-Genetics system is based on Thermo Fisher's Ion Genestudio S5 system, which is currently approved for research use only (RUO) in Russia, though it is in use across the country.

Under a licensing agreement, First Genetics can register and market the products for in vitro diagnostics in Russia, Pavel Natalin, senior business development manager for Thermo Fisher, told BioWorld.

The agreement also expands First Genetics’ “access to clinical markets and partnership opportunities with other assay developers,” Natalin said.

Roszdravnadzor, the Russian medical device regulatory agency, granted First Genetics a registration certificate for the company’s Reproline kit. The kit obtained certification for use in preimplantation genetic testing for aneuploidies (PGT-A), or an abnormal number of unmatched chromosomes, in embryos on the F-Genetics NGS system.

Conducting the NGS analysis for chromosomal abnormalities takes 10 to 13 hours for complete turnaround, with just two to three hours of hands-on time required.

Russia covers in vitro fertilization as part of the country’s efforts to boost the national birth rate. This is the first authorization for preimplantation genetic testing for numerical chromosomal abnormalities.

In human embryos, a complete lack of a copy of any non-sex chromosome, monosomy, is always lethal. A missing sex chromosome results in Turner syndrome, the only survivable monosomy. Most numerical chromosomal abnormalities are caused by three copies of a chromosome instead of the usual two. Three copies of chromosome 21 is associated with Down syndrome, while trisomy 18 and trisomy 13 cause Edward syndrome and Patau syndrome, respectively.

First Genetics controls 30% to 35% of the preimplantation genetic screening market in Russia, according to Natalin.

"It is our mission to help bring molecular testing to all parts of the world so those who need it most can benefit from the genetic information next-generation sequencing provides," said Yan Zhang, general manager, reproductive health at Thermo Fisher. "We are pleased that couples in Russia now have access to First Genetics' solutions to assist in family planning and reduce the emotional burdens they face while undergoing fertility treatment."

Future developments

Thermo Fisher has agreements with other assay developers to expand the use of NGS-based molecular diagnostics in the clinic and in research settings around the world.

"High-throughput technologies for genetic analysis are the future of molecular diagnostics," said Nikolai Kuznetsov, CEO, First Genetics. "Today we have expanded applications of NGS into reproductive medicine in Russia, and in the future, we intend to offer clinically certified solutions for other clinical applications, such as oncology testing. This is our contribution to the development of clinical diagnostics in Russia."

First Genetics oncology assays are expected to gain approval in Russia by the end of the first quarter of 2021, if not sooner, Natalin said. Those assays will be based on Thermo Fisher’s Oncomine Solutions, which are designed to be easily implemented in hospital oncology laboratories to simplify decisions surrounding targeted therapies for cancer.

Oncomine Solutions run on Thermo Fisher’s Ion Torrent Genexus system, which allows comprehensive genomic profiling within one day. In the U.S., multiple assays are approved to run on the Genexus system including targeted and comprehensive DNA and RNA analysis, tumor-specific panels, liquid biopsies, hematological profiles, and tumor mutation load assays.

Thermo Fisher also plans to work with First Genetics to seek approval for its assays in other markets as well over the “next couple of years,” Natalin said.

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