From Big Medical Encyclopedia

Term «medicogenetic consultation» includes two concepts: genetic consultation as medical it is concluded (medicogenetic consultation) and consultation as establishment where reception of patients with hereditary pathology and their relatives is carried out. Medicogenetic consultation — one of types of specialized medical care, basic purpose a cut is the prevention of hereditary diseases which is coming down to definition of degree of probability of the birth of the child with hereditary pathology, to an explanation of degree of probability of such birth and the help to a family in adoption of the reasonable decision concerning a child-bearing. A task it is also the help to the attending physician when for diagnosis of a hereditary disease special genetic methods of a research are required.

Medicogenetic consultation was practically carried out long before emergence of genetics as sciences. Elements of such consultation contain in statements of ancient doctors. However only opening of laws of Mendel (see. Mendel laws ) scientifically proved the principles of medicogenetic consultation. In our country in the late twenties by 20 century S. N. Davidenkov for the first time began to carry out medicogenetic consultation. In the 40th 20 century in a number of foreign countries (the USA, Denmark, England, etc.) were open so. naz. genetic offices. By 70th 20 century around the world were apprx. 1000 M. - to.

In the majority of foreign countries medicogenetic consultation of the population is constructed according to the following scheme: 1) in simple cases the forecast of posterity is defined by family doctors; 2) more hard cases are advised by the geneticist of the large medical center; 3) consultation of the difficult cases demanding the qualified genetic analysis is carried out in special medicogenetic consultations.

In our country medicogenetic consultation especially intensively began to develop since 1969 when the order of the Minister of Health of the USSR No. 813 «About the organization of advisory offices for medical genetics in republican, regional and regional hospitals» was issued. The following stage in development of the help hereditarily to the burdened families was the publication of the order of the Minister of Health of the USSR 1120 of October 31, 1979. «About a state and measures for further improvement of prevention, diagnosis and treatment of hereditary diseases», providing the organization of three centers: on medicogenetic consultation, on hereditary pathology at children and on prenatal hereditary pathology. With increase in level of medicogenetic knowledge of doctors and increase in number of specialists in this area the network of consultations will extend.

All-profile and specialized medicogenetic consultations can give help to families with hereditary pathology. Me wild and genetic consultations of the general profile are created on the basis of large multi-profile medical institutions. Usually medicogenetic consultations of the general profile will organize in pediatric and obstetric and gynecologic institutions as most often the birth of the sick child and desire of parents to know the forecast of a disease or probability of its emergence in future children is the reason of the address to medicogenetic consultation. Specialized medicogenetic consultations are created on the basis of large specialized medical institutions (eye, neurologic, orthopedic, etc.) which have certain experience of work on hereditarily to the caused pathology of this profile.

Organizational forms of all-profile and specialized medicogenetic consultations essentially do not differ from organizational forms of any medical establishment. The biochemist geneticist and paramedical staff enter into staff of medicogenetic consultations of the general profile the doctor geneticist, cytogenetics (reasonablly to the doctor geneticist to have also pediatric preparation). Specifics of work of the doctor - the geneticist consist that an object of its research is not only the person who addressed for consultation, but also all his family. For diagnosis the information about relatives of a proband, and sometimes and their inspection is required. In case of a hereditary disease the doctor defines probability of a disease concerning further posterity and explains to a family sense medical - the genetic conclusion. At the same time before it there are not only medical, but also moral and ethical problems. The conversation with consulting is under construction taking into account the level of their education and features of the personality. The conclusion of the consultant and his recommendation to a family are based first of all on the size of genetic risk. At a low risk degree (to 5%) the doctor usually recommends a child-bearing. At an average risk degree (6 — 20%) weight of a possible disease, presence of sick and healthy children in a family, age of parents and so forth are taken into account. In this case the doctor geneticist can recommend or not recommend a further child-bearing. At a high risk (St. 20%) the consultant, as a rule, does not recommend consulting to have children. In the presence of pregnancy resort to prenatal diagnosis. However the final decision on a further child-bearing or preservation of pregnancy is accepted by parents.

The exact diagnosis is necessary for carrying out medicogenetic consultations. According to literary data, nearly a half of all consultations is carried out for specification of the diagnosis at suspicion of a hereditary disease. At the same time such suspicions arise both at the attending physician, and at the doctor geneticist in the course of genetic examination. Specification of the diagnosis in M. - to. it is carried out with the help genetic analysis (see). For this purpose the doctor geneticist uses by a genealogical method (see), cytogenetic, biochemical, immunological methods, data on coupling of genes and method geneticists of somatic cells (see). At some recessive diseases carry out heterozygosity tests. Definition of the forecast for future posterity is based or on theoretical calculations of repeated risk, or on empirical data.

Negotiability of the population to medicogenetic consultations is still insufficient. According to a number of authors, it makes 1 — 10% of all persons in need in medical - genetic consultation of families. Most often in medicogenetic consultation address concerning the forecast of posterity and specification of the diagnosis of a hereditary disease. In other cases of a family address in medicogenetic consultation in connection with adoption of the child, his treatment and so forth. The number of addresses to medicogenetic consultation depends also on level of training of doctors in the area medical genetics (see), awarenesses of the population on hereditary diseases, popularity of medicogenetic consultation as institutions.

Efficiency of medicogenetic consultation in prevention of hereditary diseases is still low — apprx. a half of the addressed families do not follow advice of the doctor geneticist. Expansion and improvement of methods of consultation, and first of all prenatal diagnosis, will allow to pass in the future from probabilistic and theoretical forecasts to specific diagnosis of defeats of a fruit that, undoubtedly, will promote increase in efficiency of medicogenetic consultation, and also promoting of this progressive method of controlling with hereditary diseases of the person.

Widespread introduction of medicogenetic consultation and development of prenatal (prenatal) diagnosis can lead to a certain positive shift in such demographic indicators as mortality, incidence, birth rate. These indicators are directly connected with material inputs of society. Therefore the correct work of medikogenetichesky consultations, having allowed to reduce a load of hereditary pathology, will promote reduction of non-productive costs of society.

Bibliography: Antenatal diagnosis of genetic diseases, under the editorship of A. E. X. Emery, the lane with English, M., 1977; Bochkov N. P. Genetics of the person, page 330, M., 1978; D and in and d e of N to about - in and E. F. and L and e r m and N I. S. Klinicheskaya of the geneticist, L., 1975; M and to go-s to V. A. Ancestral features of the person, the lane with English, M., 1976; With t and-venson And. and D e in and with about N B. Medicogenetic consultation, the lane with with English. M, 1972; Murphy E. And. and. Chase G. A. Principles of genetic counseling, Chicago, 1975.

S. I. Kozlova.