Center for Neonatal Genodiagnostics in St. Petersburg
Genetic testing of newborns will begin in St. Petersburg
In St. Petersburg, for the first time in Russia, genetic testing of severe hereditary diseases in newborns will begin using high-performance genomic analysis technologies. This became known from a press release received by the editorial office of "Lenta.ru" from the diagnostic company Parseq Lab.
Testing of newborns on the new equipment will begin in February 2015. It will be produced on the basis of the Medical and Genetic Diagnostic Center of St. Petersburg. It is expected that the new diagnosis will be effective in detecting severe hereditary diseases in newborns, such as cystic fibrosis, phenylketonuria and galactosemia.
Diagnostics is based on the technology of high-performance genome analysis. It includes a set of reagents, protocols and specialized software. "Our solution is able to identify a wide range of genetic variants found in the genome of each person, and then annotate them, that is, offer the geneticist additional information about those mutation variants whose clinical significance has been established," said Alexander Pavlov, head of Parseq Lab.
It is expected that if the technology of genetic testing proves successful, it will be massively introduced into the country's medical institutions. "In Russia, our experience is so far the first time that this technology has moved from scientific laboratories to a clinic," he added.
In modern conditions in Russia, the genetic diagnosis of cystic fibrosis, phenylketonuria and galactosemia is carried out optionally (often at the expense of patients) and often untimely. So, on average in the USA and Western Europe, the diagnosis of cystic fibrosis is made by 11 months after birth, whereas in Russia it occurs only after more than 30 months. Early diagnosis of genetic diseases allows you to immediately start treatment, which significantly prolongs the life of patients.
Portal "Eternal youth" http://vechnayamolodost.ru21.01.2015