On June 23, 2023, a working meeting of the Russian Society of Medical Genetics was held at the D.O. Ott Research Institute of Obstetrics and Gynecology to discuss the current issues of carrier screening: testing of couples planning a pregnancy to obtain information on the possible risks of having children with a genetic pathology.
Leading industry experts took part in the meeting. Among them were Genetico’s CEO Vladimir Kaimonov and Genetico’s Medical Director Elizaveta Musatova.
Carrier screening helps identify genetic characteristics of spouses that may pose a risk to the health of their future children. It is considered that the best time for such testing is before pregnancy. By promptly informing future parents about the possible risks of having a sick child, the family can take advantage of a wide range of options of modern medicine.
Monogenic diseases are a group of hereditary diseases caused by mutations in a single gene associated with the disease. The overall prevalence of monogenic pathology among newborns is about 1%. Currently, there are more than 8,000 monogenic diseases.
High-risk families can prepare in advance for the birth of a special child, or, for example, opt for IVF with preimplantation genetic testing for monogenic diseases (PGT-M).
With PGT-M, one can find out which of the embryos obtained in the IVF protocol did not inherit the disease even before pregnancy and focus on their transfer into the mother’s body.
Genetico’s Medical Director Elizaveta Musatova spoke about the screening options available in Russia and abroad. Genetico’s laboratory performs PGT-M for all hereditary monogenic disorders. The testing accuracy is 99.5%. “Based on Genetico’s experience, most families request PGT-M for such a common disease as SMA (spinal muscular atrophy), having already faced the birth of a child with the disease. Carrier screening while preparing for pregnancy helps families learn about all possible options when planning a pregnancy and choose the one that is right for them.”
Currently, monogenic hereditary diseases are an indication for IVF which today can even be performed under compulsory medical insurance. PGT, however, is still paid for by the patients and is not covered by the government. Many experts advocate the inclusion of preimplantation testing during IVF in compulsory medical insurance standards for families at risk of having children with genetic pathology.
Genetico Center is a resident of Skolkovo, the Medtech Moscow Technopark of the Moscow Center for Innovative Technologies in Healthcare, a subsidiary of the Human Stem Cell Institute (HSCI, MOEX: ISKJ). The company works in the field of medical genetics and genetic research, implementing into medical practice innovative solutions for the diagnosis, prevention, and treatment of genetic and socially significant diseases. Genetico’s shares are traded in the IIM (Innovation and Investment Market) sector, the exchange sector for high-tech companies with significant growth potential. Genetico’s shares are listed as high-tech economy sector securities.