RUSSIAN GENETICS PRESENTED THE FIRST RESULTS OF PILOT SCREENING PROGRAMS FOR SPINAL MUSCULAR ATROPHY
29.07.2020
SMA is caused by damage to the SMN1 gene. In 95% of cases, this is an extended deletion affecting exon 7, in a homozygous state. Every 36th inhabitant of Russia is a heterozygous carrier of such mutations. The estimated incidence of the disease, as estimated by the DNA diagnostics laboratory of the Moscow State Scientific Center, is 1: 5184 newborns. The success of the treatment of the disease directly depends on the age of diagnosis. Since pathogenetic drugs help to stop the death of spinal cord motor neurons, but they are not able to restore those already dead, the earlier the diagnosis is made, the more effective the treatment. Countries that have also launched pilot projects for neonatal screening for SMA are Taiwan, Germany, Belgium, Australia and others. In some US states, screening for SMA is already being performed.
As part of a pilot neonatal screening program in Moscow, blood taken from newborns as part of a general screening is also analyzed for spinal muscular atrophy; analysis in the DNA diagnostics laboratory of the Moscow State Scientific Center is carried out in 3 days. The program started in August 2019. As of July 15, 2020, specialists from the DNA diagnostics laboratory of the Moscow State Scientific Center for Scientific Research examined 8,237 newborns. No cases of SMA have been identified.
Victoria Zabnenkova, PhD, Senior Researcher, DNA Diagnostics Laboratory, Moscow State Scientific Center: “The estimated frequency of SMA in Russia is 1: 5,184 newborns, but we analyzed more than 8,000 samples, but the mutation leading to SMA, not found. Similar situations, when the frequency of occurrence is lower than the calculated one, have arisen in other countries. This can be explained by the fact that in some cases the fetus receives a lethal genotype, which turns out to be unviable. Or parents, knowing that they are carriers of pathogenic mutations, resorted to auxiliary tools, such as prenatal or pre-implantation DNA diagnostics.
The second pilot program - selective screening of patients with suspected SMA, involves all regions of Russia. It started on February 17, 2020. The main obstacles to performing DNA diagnostics in patients with already manifested symptoms are the low awareness of the possibilities of DNA diagnostics of this rare disease among doctors of other specialties, as well as the high cost of tests.
Usually patients can count on free tests, but only if they personally visit the Federal State Budgetary Scientific Institution "MGNTs" and receive a referral for DNA diagnostics from a geneticist. The new program makes diagnostics available to a wide range of patients. To participate, only biomaterial is required - a dry blood stain on a test form, a referral from the attending physician and a signed informed consent of the patient. 42 subjects joined the program
Russia out of 85. The most active participants are Krasnoyarsk, Perm, Krasnodar Territories, Chelyabinsk, Orenburg, Irkutsk, Volgograd regions.
To date, since the start of the selective screening program, specialists from the Moscow State Scientific Center have performed DNA diagnostics in 146 patients with suspected SMA. The age range of patients is from 6 days to 73 years. Spinal muscular atrophy was confirmed in 31 patients. The youngest of them is 1.5 months old, the oldest is 40 years old.
Victoria Zabnenkova, Ph.D., Senior Researcher, DNA Diagnostics Laboratory, Moscow State Scientific Center: “Regions that have no officially registered SMA patients, for example, the Sakhalin Region, have joined the program. Recently our laboratory confirmed the diagnosis in one patient from this region.
As part of a pilot neonatal screening program in Moscow, blood taken from newborns as part of a general screening is also analyzed for spinal muscular atrophy; analysis in the DNA diagnostics laboratory of the Moscow State Scientific Center is carried out in 3 days. The program started in August 2019. As of July 15, 2020, specialists from the DNA diagnostics laboratory of the Moscow State Scientific Center for Scientific Research examined 8,237 newborns. No cases of SMA have been identified.
Victoria Zabnenkova, PhD, Senior Researcher, DNA Diagnostics Laboratory, Moscow State Scientific Center: “The estimated frequency of SMA in Russia is 1: 5,184 newborns, but we analyzed more than 8,000 samples, but the mutation leading to SMA, not found. Similar situations, when the frequency of occurrence is lower than the calculated one, have arisen in other countries. This can be explained by the fact that in some cases the fetus receives a lethal genotype, which turns out to be unviable. Or parents, knowing that they are carriers of pathogenic mutations, resorted to auxiliary tools, such as prenatal or pre-implantation DNA diagnostics.
The second pilot program - selective screening of patients with suspected SMA, involves all regions of Russia. It started on February 17, 2020. The main obstacles to performing DNA diagnostics in patients with already manifested symptoms are the low awareness of the possibilities of DNA diagnostics of this rare disease among doctors of other specialties, as well as the high cost of tests.
Usually patients can count on free tests, but only if they personally visit the Federal State Budgetary Scientific Institution "MGNTs" and receive a referral for DNA diagnostics from a geneticist. The new program makes diagnostics available to a wide range of patients. To participate, only biomaterial is required - a dry blood stain on a test form, a referral from the attending physician and a signed informed consent of the patient. 42 subjects joined the program
Russia out of 85. The most active participants are Krasnoyarsk, Perm, Krasnodar Territories, Chelyabinsk, Orenburg, Irkutsk, Volgograd regions.
To date, since the start of the selective screening program, specialists from the Moscow State Scientific Center have performed DNA diagnostics in 146 patients with suspected SMA. The age range of patients is from 6 days to 73 years. Spinal muscular atrophy was confirmed in 31 patients. The youngest of them is 1.5 months old, the oldest is 40 years old.
Victoria Zabnenkova, Ph.D., Senior Researcher, DNA Diagnostics Laboratory, Moscow State Scientific Center: “Regions that have no officially registered SMA patients, for example, the Sakhalin Region, have joined the program. Recently our laboratory confirmed the diagnosis in one patient from this region.
