pp. 268-270 in Bioethics in Asia

Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute

Copyright 2000, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author.

8.2. Medical Genetic Services in Russia

V. I. Ivanov.

Research Centre for Medical Genetics, Moscow, Russia

Russia occupies an area of some 170 millions sq. km. populated by about 150 million inhabitants belonging to more than 120 national and ethnic groups, some of which differ essentially in language, life style, culture, religion, etc. (Table 1). About a quarter of the total population belongs to rural residents. Overall birthrate is about 1.2 millions of newborns per year. The European part of Russia is by an order of magnitude more densely inhabited than the Asiatic one is. Especially scarce is the population of North-East Asiatic arctic and subarctic regions. The above features, as well as uneven and scarce geographical distribution of settlements, great distances between them set serious problems in communication and provision of services.

Genetic counselling was started in Russia by S.N. Davidenkov in late 1920s. However, since mid 1930s to late 1950s the genetics service and the teaching of genetics in medical schools had been totally stopped. Ultimately genetic service was re-introduced into national health care system only in 1969, when genetic counselling units were organized at the local, provincial and regional hospitals. The staff of such units included a physician (usually a pediatrician or an obstetrician-gynecologist, specially trained in genetic counselling and clinical diagnosis of genetic diseases) and laboratory specialists in cytogenetic analysis of chromosome diseases and selective biochemical screening for main classes of metabolic diseases. Every genetic unit, providing the service in a respective district, might refer to better equipped clinics in large cities, mainly in Moscow and St.-Petersbourg (former Leningrad). According to some estimates only about 1 to 10 % of families, who actually had certain genetic problems, did actually apply for genetic care.

Current medical genetic service in Russia is provided by some 600 physicians, trained in genetics, including about 300 of genetic counsellors, about a hundred of biochemists and molecular geneticists and up to 200 of cytogeneticists. The service is co-ordinated by Mother and Child Care Department of the Russian Federal Ministry of Health with the aid of a Council of 18 experts presided by E.K. Ginter. Primary genetic care, i.e. preliminary counselling by a general practitioner, based on visible morbid traits in patients and ultrasonographic survey of pregnant women, is provided by genetic units in 70 local hospitals (Table 2). The bulk of routine medical genetic procedures, such as detailed counselling, post- and prenatal cytogenetic, biochemical and ultrasound testing is provided by 10 of the genetic units having the status of Regional Medical Genetic Centres. The topmost level of the Federal Service includes 7 Federal Medical Genetic Centres, the activities of which cover molecular analysiss of genetic disorders, allele and mutation identification in monogenic diseases, fine cytogenetic analysis of complicated chromosome rearrangements in families at risk, the procedures of prenatal sampling and testing,, teaching the personnel for all levels of the service, executing quality control, etc.

Table 1: Some data on the population of Russia

Population size about 150 millions

Birthrate/year about 1.2 million per year

Number of ethnic groups above 120

Area occupied about 170 millionn. sq. km

Table 2: Medical genetics services in Russia.

Dept. Mother and Child Health, Federal Ministry of Health

7 Federal Medical Genetics Centres

10 Regional Medical Genetics Centres

70 Medical Genetics Units in local Hospitals

Average data on the yearly amount and level of genetic care recently provided in Russia were reported by Drs. D.I. Zelinskaya and P.V. Novikov, responsible officers of the Russian Ministry of Health. Within the last three years about 80 thousand families asked for genetic help, of which above 80 (were referred to by district physicians. To 23 thousands counsellees routine karyotype analyses were performed and in about 9.5% of the cases chromosome disorders were found. Up to 75% of newborns were screened for PKU and a half of them for hypothyroidism, as well. Selective screening for metabolic disorders included about 22 thousands of newborns. Up to 300 thousands of a million of pregnant women in 60 of 89 regions of Russia applied for US prenatal diagnosis. 73% of the counsellees received detailed US-examination, of which 1,590 women were selected for karyotyping and DNA-testing of fetuses for mendelian disorders. In 3.6% of the examined fetuses serious anomalies were found, including 0.72% with chromosome disorders.

Table 3: Genetic diseases diagnosed by DNA-analyses in Russia (V.S. Baranov, O.V. Evgrafov et al.)

1. Cystic fibrosis M SPB T N

2. Phenylketonuria M SPB T N

3. Duchenne Muscular Dystrophy M SPB T

4. FraX-A, fraX-B M SPB

5. Hemophilia A M SPB

6. Hemophilia B M SPB

7. Hunter Syndrome M SPB

8. Huntington Chorea M SPB

9. (-Thalassemia M SPB

10. von Willwbrand Disease M SPB

11. Adrenogenital Syndrome M

12. Agammaglobulinemia X-linked M

13. Alport Syndrome M

14. Ataxia Teleangiectasia M

15. Charcot-Marie-Tooth Disease M

16. Friedreich Ataxia M

17. Spinal Muscular Atrophy M

18. Wilson-Konovalov Disease M

19. Antitrypsin Deficiency SPB

20. Diabetes Mellitus, type I SPB

21. Hypercholesterolemia Familial SPB

22. Kennedy Disease SPB

23. Lesh-Nyhan Syndrome SPB

24. Myotonic Dystrophy SPB

25. Polycystic Kidney SPB

M - Moscow, SPB - St.Petersbourg, T - Tomsk, N - Novosibirsk

Beyond the ultrasonography, molecular genetic, biochemical and cytogenetic diagnoses of genetic disorders based on chorion villi sampling, amnio- and cordocentesis are available in some Medical Genetic Centres of Russia, mainly in Moscow and St.-Petersbourg and have, also, been recently started in Tomsk and Novosibirsk.

In 1996 prenatal diagnostic procedures were carried out on 1743 fetal samples, including 1483 cytogenetic, 279 biochemical and 364 molecular investigations. A list of diseases diagnosed by DNA-investigation in the four above mentioned Centres, either pre- or postnatally, is presented in Table 3. Beyond the above mentioned centres prenatal diagnostic sampling is occacionally made in some two dozens of regional and local medical genetic units.

Invasive sampling procedures (CVS, amniocentesis, placentocentesis, cordocentesis) are available now in 10 regional and 13 local genetic units. Rather available are the ultrasound fetal monitoring (covering some 80 (of pregnancies) and mopther serum screening for congenital anomalies. Widely applied in all the genetic units are the cytogenetic studies; and in a few centres fine FISH analysis of chromosomes 13, 18, 21, X and Y is available since 1996 (N.P. Kuleshov et al.).

Some dozens of metabolic diseases are diagnosed in all regional genetic centres, but elaborated biochemical programmes are carieed out only in some Federal Centres, especially in our Research Centre for Medical Genetics in Moscow. For example, about 40 lysosomal storage diseases are accurately diagnosed here, both prenatally and postnatally (Table 4).

Table 4: List of LSDs diagnosed in RCMG, Moscow (K.D. Krasnopolskaya et al.)

Mucopolysaccaridoses, types I - IV and VI, Mucolipidoses II and III, Multiple sulfatidosis, Glicoproteinoses (alpha-mannosidosis, sialidosis), Sphingolipidoses (Tay-Sachs disease, Sandhoff disease, Gangliosidoses GM1 and GM2 , Krabbe disease, Metachromatic leukodystrophy, Gaucher disease, Niemann-Pick disease, types A and C, Fabry disease, Farber disease, Wolman disease, Cholesterol ester storage disease).

To help the clinical syndromological diagnosis of multiple malformations a set of computer Russian language software had been elaborated, which is available now in regional genetic centres (V.I. Ivanov et al.).

Undergraduate and postgraduate training in medical genetics is practiced now at a number of universities and academies in Moscow, St.-Petersbourg and Tomsk (N.P. Bochkov, V.I. Ivanov, S.I. Kozlova, V.P. Puzyrev et al.). Funding of Medical Genetic Service in Russia is now carried out via Federal Foundation for Invalides and Handicapped Persons strengthened by injections from regional and local budgets and voluntary donations. Multisource funding permits one to suggest only a rough estimate of the overall funding as 6.5 millions USD (PKU project included). This sum is really insufficient. Therefore, of essencial help is the income from some federal research foundations, such as Human Genome, Peoples' Health, Fundamental Research, Priorities in Medicine and Genetics, especially for fine technological studies.

People of Russia , including both the lay people and the medical professionals, are not, as yet, well accustomed to medical genetic services and modern procedures. Respectively, ethical and legal aspects of the service are now in statu nascendi. Up to now, only ethical and legal issues included into RF Basic Legislation on National Health Care and Ministry of Health Guidelines on Medical Genetic Service are available. However, due to current progress in reproductive and genetic technologies, the legal and ethical implications of the latter are being widely discussed in the society and by the professionals and authorities. The Federal Low, regulating the handling of non-human genetic material and constructs, is already in action. The draft-bills concerning the human reproductive rights and the bioethical regulation of application of modern biomedical technologies are now at the stage of professional and social expertise.

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