The First Eurasian Forum «The Commonwealth Without Borders» Was Attended by About 7,000 People
On October 27-28, 2022, the First Eurasian Forum «The Commonwealth Without Borders» was held, devoted to the diagnostics and treatment of orphaned diseases, the development of medical genetics technologies in the countries of the Eurasian Economic Union and the Eurasian region. The forum was attended by doctors, scientists, health care organizers of the Russian Federation, the Republic of Kazakhstan, the Republic of Belarus, the Kyrgyz Republic, the Republic of Armenia and the Republic of Uzbekistan.
The forum became a platform for discussion of the current situation in the diagnostics of hereditary diseases, methods of improving the quality of medical care for patients with orphaned diseases, interstate programmes of supplementary professional education, as well as the exchange of experience between practitioners and scientists of the participating countries. The forum also discussed key directions of development of medical genetics technologies as the basis of modern healthcare system.
Sergey Kutsev, Director of the Research Centre for Medical Genetics, chief external expert in Medical Genetics of the Ministry of Healthcare of Russia, president of the Association of medical geneticists of Russia, academician of the RAS, noted: “The Forum today is of great importance for the development of medical genetics, both in terms of sharing new scientific data and in terms of improving the healthcare system. Improving the quality of care for patients with orphaned diseases is one of the main tasks of modern medicine today. The topic of rare diseases is receiving increasing attention at the highest levels of government. The Government of the Russian Federation has decided to expand mass neonatal screening to 36 hereditary diseases, on behalf of the President of the Russian Federation, a charity fund «The Circle of Well» has been established, which provides children with expensive treatment, the structure of the medical and genetic service is being improved. New diagnostic programmes are being introduced and research is being conducted on rare diseases. This and much more allows us to say that today Russia is improving a comprehensive system of assistance to patients with hereditary diseases. We are ready to share our experience with colleagues and apply their successful experience in our own work”.
Republic of Kazakhstan: screening experience
In Kazakhstan, there has been an increase in childhood disability due to cerebral palsy, autism, epilepsy, mental retardation, severe hearing and visual impairment, etc., with the contribution of hereditary metabolic diseases (HMD) amounting to 30-40 per cent. In 2022, according to the Order of the Minister of Healthcare of the Republic of Kazakhstan, a pilot project of neonatal selective screening on HMD by tandem mass spectrometry was conducted in all regional Perinatal Centres. There were 112 newborns with clinical symptoms of possible HMDs. As a result, 6 patients with hereditary metabolic diseases were identified: 3 of them - with defects of fatty acids oxidation, 1 - with organic aciduria, 1 - with peroxisome disease, 1 - with a violation of the urea cycle. Four have received timely therapy, treatment mixtures, are on outpatient treatment.
Gulnara Svyatova, Head of the Republican Scientific Centre for Obstetrics, Gynaecology and Perinatology, chairman of the Association of medical geneticists of the Republic of Kazakhstan, professor, noted: ”The main achievement is the establishment of a centralized level genetic screening system covering all regions. Performance indicators that meet international standards are regularly evaluated. Neonatal screening is performed on two diseases: phenylketonuria and congenital hypothyroidism. All regional medical genetic clinics participate in an external quality control programme for screening tests. In 15 years of screening, 4.6 million samples of newborn biomaterial were examined, 169 children with phenylketonuria and 599 with congenital hypothyroidism were identified. All of them received timely treatment and had no disabling effects”.
Gulnara Svyatova notes: “In total, according to the Order of the Ministry of Healthcare of the Republic of Kazakhstan 142 of October 20, 2020, the List of rare diseases includes 62 nosologies, the treatment of which is lifelong and provided by the State. The problem of Kazakhstan is late genetic diagnostics. Thus, in the Republic of Kazakhstan, almost all patients with mucopolysaccharidosises are diagnosed with severe clinical manifestations, when expensive treatment is ineffective and is aimed only at maintaining basic life functions. There is a practice of sending genetic analyses abroad, which does not allow the development of domestic science, domestic laboratory molecular-genetic diagnostics, to prepare domestic personnel. It is necessary to create the national system of genetic diagnostics and control of efficiency and safety of treatment of orphaned patients in the Republic of Kazakhstan, the unified state nosological registers of orphaned patients for planning and increasing the efficiency of budget expenditures, as well as the national council of experts on the diagnostics and treatment of orphaned diseases. If necessary, the inter-state council of experts, with access to the population of all regions of Kazakhstan. In addition, there is a need for a training system for medical geneticists, as well as specialists in related disciplines: onco-genetics, cardio-genetics, ophthalmo-genetics, molecular genetics, bioinformatics, etc”.
Republic of Armenia: gene diagnostics of family Mediterranean fever
The Centre for Medical Genetics was established in Armenia in 1998. It brought together geneticists and doctors of various profiles. The main achievements of the medical genetic service include genetic diagnostics of rare diseases, hereditary types of cancer, pharmacogenetic research, postnatal and prenatal diagnostics, combined prenatal screening. Methods of classical cytogenetics and sequencing of the new generation are widely introduced.
For more than 20 years, a rare genetic autoimmune disease, family Mediterranean fever, has been studied. It is a monogenic recessive disease, widespread in Armenia. Specialists have examined about 50,000 patients and their families - the world’s largest sample of patients with this diagnosis. Genetic diagnostics has virtually eliminated mortality from renal amyloidosis. Before the introduction of these methods, between 20 and 25 per cent of patients had died at a young age.
Tamara Sarkisyan, professor, President of the Armenian association of medical geneticists, Director of the Centre for Medical Genetics and Primary Healthcare, Head of the department of medical genetics of Yerevan State Medical University, summarizes: “Due to the fact that we determine the range of mutations, we are able to prescribe the most effective treatment in each case - a vivid example of personalized medicine. Today it is advisable to expand international cooperation in the field of neonatal screening and treatment of orphaned diseases. In Armenia, neonatal screening is conducted for congenital hypothyroidism, phenylketonuria, congenital deafness, retinopathy of premature babies. Exchange of experience with countries where screening for spinal muscular atrophy (SMA) and cystic fibrosis is very important, diagnostics of Duchenne muscular dystrophy, hereditary metabolic disorders and timely treatment of severe orphan diseases are carried out. Cooperation will allow identification of priority researches compatible with national, genetic, historical and cultural peculiarities of our countries”.
Republic of Belarus: experience in detecting new diseases
Medical genetics has been developing in Belarus for more than 50 years. The medical genetic service of the Republic currently includes departments of prenatal diagnostics, medical genetic counseling, genetic laboratory and two scientific laboratories that are the parts of the Republican scientific practical centre «Mother and Child» as well as five regional medical genetic centres. The success of the medical genetic service makes it possible to prevent the birth of about 1,000 to 1,300 children with severe, untreatable abnormalities every year. Among the main scientific directions of activity of Belarussian geneticists a significant place is occupied by the study of phenotypic manifestations of syndromes of multiple developmental defects and chromosomal diseases. The development of this direction allowed the creation of a computer system for the diagnostics of hereditary pathology and the identification of several new, previously unknown monogenic syndromes. This year in the Republic of Belarus, thanks to the use of tandem mass spectrometry and sequencing of a new generation, a patient with sialuria was identified for the first time, and Chara syndrome was diagnosed for the first time.
Oxana Pribushenya, professor, Head of the laboratory of medical genetics and monitoring of congenital defects of development of the Republican scientific practical centre «Mother and Child», notes: “Today medical genetics has become a multidisciplinary field of knowledge. Genetic research is carried out in neurology, oncology, psychiatry, cardiology and many other fields. The molecular genetic and cytogenetic data obtained need to be evaluated, understood and professionally presented to the patient and his family. Many specialties today need to train young creative personnel, specialists and geneticists. In this context, international cooperation, exchange of experience and implementation of joint scientific projects are of particular importance. Regular professional meetings at scientific and scientific practical sites will be realized in improving the quality of medical assistance to the peoples of the countries of the Commonwealth. Therefore, the First Eurasian Forum on Diagnostics and Treatment of Orphan Diseases «Commonwealth Without Borders» is a landmark event for the Republic of Belarus”.
Republic of Uzbekistan: expansion of neonatal screening
Neonatal screening for congenital hypothyroidism and phenylketonuria, as well as prenatal screening for congenital malformations and chromosomal syndromes of the foetus, has been carried out in Uzbekistan since 1998. Since 2014, selective screening for metabolic diseases has been carried out, and since 2021 selective screening for lysosomal diseases using tandem mass spectrometry.
Madina Sharipova, professor, Director of the Republican Centre «Screening of Mother and Child», chief geneticist of the Ministry of Healthcare of the Republic of Uzbekistan, noted that since 2023 mass neonatal cystic fibrosis screening and pilot studies for spinal muscular atrophy (SMA) will be conducted. In addition, children diagnosed with SMA will, according to the Presidential Decree, be provided with risdiplam free of charge.
Tomsk: full cycle of translation of fundamental knowledge into clinical practice
There are two institutions in Russia that deal with medical genetics as a science, and one of them is in Tomsk – the Research Institute for Medical Genetics of Tomsk NMRC, which includes the only Medical Genetic Centre (Genetic Clinic) beyond the Urals. There is organized a full cycle of study, development of approaches to diagnostics, treatment and prevention of orphan diseases, in an inextricable connection with basic research. Thanks to the work of Tomsk institutions, fundamental knowledge is translated into clinical practice, literally, to the patient’s bed. At the same time, there is movement in the opposite direction - in the format of problem-setting for researchers. In the field of the genetics of orphan diseases, scientific and practical problems constantly arise. New diagnostic technologies related to mass parallel sequencing, exome sequencing, genome sequencing, RNA sequencing are in the global trend. These approaches are also being developed in the laboratories of the Research Institute for Medical Genetics of Tomsk Institute.
Methods of pre-implantation genetic diagnostics of monogenic diseases related to assisted reproductive technologies are being actively developed and introduced. This led to the birth of a healthy child in 2022. The family underwent pre-implantation diagnostics and artificial insemination.
Tomsk specialists have developed several dozen protocols for pre-implantation testing of monogenic diseases, ranging from relatively common cystic fibrosis to rare ones such as Hunter syndrome.
Vadim Stepanov, professor, Director of the Tomsk National Medical Research Centre of the Russian Academy of Sciences, says: “This is a vivid example of the quintessence of personalized approach to the prevention of monogenic diseases. Starting next year, we will have to begin another important phase in the work on orphan diseases: the introduction of an expanded neonatal screening programme for 36 diseases. We have become one of the reference points for such screening, we will be responsible for extended screening in the territory of the Siberian Federal District and several other subjects of the Russian Federation. Forum «Commonwealth Without Borders» gives researchers and clinicians of different countries a great opportunity to share valuable practical experience in this field. Genetics is now in the focus of the government’s attention, and we see significant financial input into the development of genetic technologies in our country. Of course, such support is pleasing, it helps the emergence of new practical applications that promote the birth of healthy children, so that we can learn to diagnose and treat orphan diseases even better. Forum «Commonwealth Without Borders» supports the trend of development of science in this field, providing effective interaction of researchers from the countries of the Commonwealth. To a large extent, the genetics of orphan diseases are determined by the genetic diversity of the population, and of course the structure, epidemiology and frequency of orphan diseases differ in the countries of the Commonwealth. In this regard, it is very important to exchange experience in the community of medical geneticists, Government authorities”.
At the forum «Commonwealth Without Borders» the signing of the Declaration on the establishment of the Eurasian Association of medical geneticists took place.
The cooperation of the forum participants should become a platform for the development of inter-state programmes to improve the system of diagnostics of orphan diseases and support genetic research in general.