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Parseq Begins Offering NGS-based Newborn Screening in Russia


NEW YORK (GenomeWeb) – Russian genetic diagnostic company Parseq Lab has received financing from the St. Petersburg Ministry of Health in Russia to offer its validated next-generation sequencing-based test VariFind that screens for cystic fibrosis, galactosemia, and pheynylketonuria in a clinical setting to newborns with a positive biochemical test.

Last year, the company, which was previously Sequoia Genetics, received CE-IVD marking for its test.

Sequoia is part of the Alkor Bio Group, which consists of a group of biotechnology companies. The research team at Sequoia Genetics that was responsible for the development of VariFind formed the independent company Parseq in order to launch the test clinically.

Alexander Pavlov, former CEO of Sequoia, is CEO of Parseq. Irina Boreysho, marketing specialist at Parseq, said that Parseq received funding to become a separate entity, launch VariFind, and develop additional NGS-based diagnostic tests.

"We're developing diagnostic assays, specifically. Not for scientific research purposes," she told GenomeWeb.

Boreysho said that Parseq began running its VariFind test clinically on Jan. 12, and expects to assess around 1,000 samples this year. If the test proves to be better than current screening protocols, it may be expanded to other regions in Russia.

The VariFind test will be offered as a second-line screen for newborns that are positive for the initial biochemical screen. First-line biochemical screening evaluates levels of a chemical called immunoreactive trypsinogen. Typically, babies with 70 ng/ml of IRT go on to the second round of screening. Boreysho said that in order to test the sensitivity of VariFind, newborns with 50 ng/ml of IRT will receive the test.

Testing is being financed by the Medical Ministry of Health in St. Petersburg, so patients will not have to pay out of pocket.

The VariFind assay is a targeted AmpliSeq assay that runs on Thermo Fisher's Ion Torrent PGM and includes customized bioinformatics. It analyzes 460 mutations, 320 of which are associated with cystic fibrosis, in the coding regions and some noncoding regions of the CFTR, GALT, and PAH genes.

The company performed clinical trials in three European laboratories: the Institute of Molecular Pathology and Immunology of the University of Porto, the StabVida company in Portugal, and the Centre for Genomic Research at the University of Liverpool. The labs independently tested 576 samples and established diagnostic sensitivity and specificity of 99.31 percent and 100 percent, respectively.

Aside from now offering it within the standard newborn testing process in St. Petersburg, Parseq also sells VariFind to partners in Lisbon and Brazil. Those laboratories buy VariFind as a kit, including the necessary reagents and software that can either be downloaded to local computers or accessed through the web.

Boreysho said that Parseq is in the midst of developing other NGS-based diagnostic tests, including a 160-gene ophthalmology panel that it is developing in conjunction with Ophthalmic, a Russian company that specializes in genetic testing for ophthalmology diseases. The test is also being designed on the PGM and will screen for inherited retinopathies.

Initially, the test will only be offered through Ophthalmic, Boreysho said, with the possibility of expanding it.

Parseq is also developing a noninvasive prenatal test for fetal aneuploidies on the Ion Proton, Boreysho said. She said the company will do clinical trials of the test in Russia and is developing its own test rather than using one of the tests offered by existing NIPT companies.

"The development process is being done," she said. "We need to have enough cases to prove the characteristics of the test."

While Parseq is developing the test on the Proton, she said that the assay could run on either the Proton or an Illumina system, depending on the equipment that the specific institution running the test has available. Parseq is platform agnostic, she added.

When the NIPT is launched, Boreysho said that patients would likely have to pay for it out of pocket. "We have a prenatal screening program in Russia, which is paid for by the government, but it doesn't include noninvasive testing at the moment, just the invasive one," she said.

Finally, she said that Parseq is working on a sequencing-based human identity test that will analyze both short tandem repeats and SNPs. This week, Illumina launched a dedicated platform for forensic testing, MiSeq FGx, including a targeted panel that analyzes both STRs and SNPs.

Boreysho said Parseq is developing its own panel, but declined to disclose additional details about the panel because the company plans to present data at the Human Identification Solutions Conference in Madrid in March.