Hum. Genet. 41, 189--195 (1978) © by Springer-Verlag 1978

Evaluation of Genetic Consultations in the Public Health Service N. P. Bochkov and S. I. Kozlova Institute of Medical Genetics, AMS USSR, Moscow, USSR

Summary. Work of the Genetic Consultation Group at the Institute of Medical Genetics, USSR Academy of Medical Sciences is analyzed and evaluated from the viewpoint of working out organizational principles for counseling. During three years (from July 1973 to June 1976) 1145 families were referred to us, of which 76% were referred by physicians and 24% were self-referrals. Reasons for referral were progeny prognosis (75.7%), health prognosis (1.5%), more precise diagnosis (18.1%), treatment (2.7%), and other reasons (2%). The main cause of referral was birth of a sick child (75%). People seeking advice were divided according to disease group as follows: chromosome diseases and congenital malformations (45.4%), monogenic diseases (15.4%), diseases with hereditary predisposition (14.6%), repeated miscarriages and infertility (11.5%), and others (13.1%). For counseling, 1145 families required additional cytogenetic (987) and biochemical (138) investigations. At evaluation of genetic risk, 16 types of genetic problems were encountered. It was concluded that genetic counseling should be organized firstly in pediatric and obstetric-gynecologic services, both in general and specialized hospitals. To facilitate referrals to the consultation center, spread of genetic knowledge among physicians and the population is necessary. The most effective form of propaganda among physicians is distribution of special literature with a list of indications for referral to consultation centers; most effective among the population are articles in newspapers and magazines.

Introduction

Efficiency of counseling is presently still low in many countries (Carter, 1969; Carter et al., 1971; Leonardet al., 1972; Sly, 1973; Emeryet al., 1973; Seemanovfi et al., 1973; Reynolds et al., 1974; Hsia, 1974). On the average, the decision to have a child is not influenced by a visit to a geneticist in half the cases referred. At present,

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with great achievements in different fields o f medical genetics, it is necessary to intensively d e v e l o p the principles o f counseling to m a k e its u l t i m a t e results m o r e effective. This d e p e n d s m a i n l y u p o n o r g a n i z a t i o n o f forms a n d m e t h o d s of couseling, The existing system o f p u b l i c service a d o p t e d in a c o u n t r y should, b e y o n d d o u b t , be c o n s i d e r e d when o r g a n i z i n g genetic counseling. The net of genetic counseling s h o u l d be o r g a n i z e d on the principles o f public health service p e c u l i a r to each country. In the U S S R the following principles are considered f u n d a m e n t a l in o r g a n i z i n g genetic counseling: free service, universality, availability, and prophylaxis. This w o r k is i n t e n d e d to elucidate o r g a n i z a t i o n a l principles for genetic counseling in general p u b l i c health service.

Subjects and Methods Genetic counseling at the Institute of Medical Genetics, USSR Academy of Medical Sciences, is a part of public health service in Moscow. It was organized in 1973. The heads of all hospitals and clinics were informed about it and received specially compiled booklets for physicians with a list of indications for referral to the Counseling Center. To diagnose hereditary diseases more precisely, the Counseling Center has twelve specialized institutions for adults and twelve for children attached to it (neurology, hematology, ophthalmology, otorhinolaryngology, orthopedics, stomatology, and others). During three years (June 1973--July 1976) 1145 families were referred for consultation, of which 76% were sent by physicians and 24% were self-referrals. In the great majority of cases it was the parents who came for advice to the Center (77%). Probands came in 18.4% of the cases, grandparents in 1.5% and other relatives in 3.1% of the cases. Analyzed were 1145 genetic files. Each file contained information about the proband0 his relatives, a detailed family history, and the geneticist's conclusion. Reasons for referral, 'nosologic profile,' and a number of additional investigations were studied. Also, 192 families out of 1145, which were self-referrals, were questioned according to a specially prepared questionnaire to find out how well the population understood the aim of genetic counseling. Of all the families referred for counseling on progeny prognosis, 337 families in which the proband's diagnosis was beyond any doubt were chosen. Types of genetic problems encountered were studied to estimate the risk of hereditary pathology in each family. To estimate the efficacy of various types of propaganda to increase genetic knowledge, different kinds of propaganda campaigns were analyzed: distribution of special literature among physicians, lectures for physicians and population, and articles in newspapers and magazines.

Results and Discussion Sources o f i n f o r m a t i o n on self-referred families for genetic counseling are given in T a b l e 1, which shows t h a t m o s t patients learned o f the possibility of genetic counseling t h r o u g h n e w s p a p e r s , magazines, a n d acquaintances. T h u s we conclude t h a t a wider d i s t r i b u t i o n o f k n o w l e d g e a b o u t h e r e d i t a r y diseases t h r o u g h r a d i o , television, a n d talks with physicians is necessary. A n i m p o r t a n t p o i n t in w o r k i n g out o r g a n i z a t i o n a l forms o f counseling is an analysis o f p a t i e n t s a c c o r d i n g to their reasons for referral. The results of such an

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191

Table 1. Sources of information about genetic counseling among the population Sources of information Newspapers and magazines Advice of acquaintances Special medical literature Lectures and talks with a physician Radio and television Total

Number of families questioned

%

87

45.4

53 36 14

27.7 18.7 7.2

2

1

192

100

Table 2. Reasons for referral to genetic consultation Reasons

Number of families

% of total

Goals Progeny prognosis

867

Prognosis as to state of health Ascertainment of diagnosis Treatment

1.5

208 31

18.1 2.7

22

2.0

Others Total

75.7

17

1145

100

Reasons Pathology of fetus

859

75.0

Pathology of adult

222

19.4

Consanguineous marriage

12

1.0

Others

52

4.6

Total

1145

100

Table 3. Nosologic profile of patients referred to the genetic counseling center Indices

Chromosome diseases and congenital malformations

Hereditary monogenic diseases

Diseases with hereditary predisposition

Repeated miscarriages and infertility

Other a

Total

Number Percentage

513 45.4

193 15.4

217 14.6

117 11.5

105 13.1

1145 100

a This group includes those consulted on the occasion of consanguineous marriages, the influence of environmental factors, determination of paternity, and some hereditary diseases

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analysis are given in Table 2, which shows that families coming to consult on progeny prognosis were most numerous. The great majority of these families came for consultation due to birth of an affected child. To correctly organize counseling, the distribution of patients according to disease group is necessary. These data are given in Table 3. The greater frequency of counseling regarding chromosomal diseases and congenital malformations may be explained by the fact that in the USSR propaganda about these forms of pathology in scientific and popular literature was much more widely distributed than that about monogenic hereditary diseases. Analysis of the data on 'nosology~according to reasons for referral shows that the organization of genetic counseling concerns mainly pediatric and obstetric services. In a government system of health service, genetic counseling may be run at specialized hospitals (eye hospitals, neurologic, dermatologic, and others) or at general hospitals. Both types of counseling (specialized and general) are now being organized in the USSR (there are already over 60 of them), and experience is accumulating. Apparently, in the later as well as in the initial period of the development of genetic counseling, these two forms may function alongside one another without duplication or subordination of each other. Three groups were distinguished according to the correctness of diagnosis in the analysis of patients referred for counseling: (1) persons with suspected hereditary disease who were not diagnosed, (2) persons whose diagnosis was determined, but which became doubtful in the process of genetic study, (3) persons with correct diagnosis. These data are given in Table 4. The first two groups are quite numerous. Of patients with suspected genetic pathology, 18% were sent for more exact diagnosis, and in 20% of cases diagnosis had to be made more precise due to doubts about its exactness, although a physician had not doubted the diagnosis and the patient had been sent to check on prognosis. Thus,

Table 4. Number of correct diagnoses in patients sent for genetic consultation Years

1973 1974 1975 1976 (first half of the year) Total

Total number of referrals

Those sent for Thosesent for the progeny Others ascertainment prognosis of diagnosis Diagnosis Diagnosis not changed changed at counseling center

195 359 333 258

50 69 64 25

98 186 192 174

34 84 62 54

13 20 15 5

1145

208

650

234

53

884

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Table 5. The number of additional studies of genetic counseling (1145 families) Type of additional study

Total number

Per consultation

Cytogenetic analysis Special biochemical investigations Referral to other institutions to ascertain the diagnosis Necessity of prenatal diagnosis

987 138 238 138

0.86 0.12 0.2 0.12

in almost half of the cases, the proband's diagnosis had to be more exactly defined. The factual material for calculation of the number of special analyses in the counseling room and help from other institutions is presented in Table 5. The high number of cytogenetic analyses is explained by the fact that the main groups of patients referred for counseling had chromosomal diseases, congenital malformations, or obstetric pathology. A high demand f or additional investigations makes organization of specialized laboratories (cytogenetic, biochemical, and immunologic) and centers of prenatal diagnosis in the big cities necessary. The analysis of 337 referrals for counseling for progeny prognosis where the proband's diagnosis was beyond doubt showed the variety of genetic problems that arise (Table 6). The structure of genetic situations occurring in counseling practice shows that a geneticist should have thorough genetic training, since he has to handle different genetic problems. He should also master the elements of statistical methods and probability theory. As an analysis of the literature (Sly, 1973; Wendt and Theile, 1974; Fujiki et al., 1972; Fuhrman and Vogel, 1975) and the experience of the Genetic Counseling Center of the Institute of Medical Genetics, USSR Academy of Medical Sciences, show, one of the main problems in counseling, especially at the initial stages, is the small number of patients. It is known from the literature that at the majority of genetic counseling centers, 100--200 families are received per year.Only a quite insignificant percentage of patients in need of consultation apply. According to some authors, these constitute only 1% (Wendt and Theile, 1974). The genetic counseling centers themselves do not cause this low number of referrals. The main reason for the situation is the insufficient genetic education of physicians and the population. In working out principles of organization for counseling centers, an important criterion is selection of the types of propaganda media for spreading genetic knowledge among physicians and the population in order to make people seek advice. We have analyzed patients seeking advice according to the estimate of efficiency of propaganda measures. While conducting experimental campaigns we considered the number of outpatients before and after the campaign, the duration of referral upswing, the ratio of necessary to unnecessary referrals, and the change in 'nosologic profile' of those consulting. The general efficiency of different means of propaganda media is presented in Table 7.

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Table 6. Variants of genetic problems in the estimation of risk of hereditary pathology in genetic counseling Types of problems

Number of families

Principles of risk estimation

Chromosomal pathology i. Numeral anomalies

126 116

Tables of empirical risk Theoretical calculations of types of gametes forming, with elimination coefficient in embryonic period

2. Structural anomalies

8

3. Mosaicism

2

Multifactorial diseases 1. Birth defects 2. Neuropsychical diseases 3. Allergoses 4. Duodenal ulcer

121 54

Tables of empirical risk Theoretical calculations on the basis of mathematical models of inheritance

47 9 4

5. Others Monogenic diseases 1. In the known genotype of both of the parents for all types of inheritance 2. In autosomal-recessive diseases, if one of the couple is known 3. In autosomal-dominant diseases with incomplete penetration 4. In consanguineous marriage (with the presence or absence of the disease in family history) 5. In sporadic cases of dominant diseases with an incomplete penetrance and Xlinked diseases

64 47 7 2

Taking into account the frequency of heterozygotes in a population Taking into account penetration

7

Taking into account the coefficient of inbreeding of the couple and their relationship with affected members of the family

1

On the basis of correlation of frequency of newly appeared and inherited mutations in the given disease

An unknown type of inheritance only after a family history With the presence of two or more diseases in a family history Under the effect of environmental mutagenic factors

Theoretical calculations According to types of gametes forming

On the basis of the most probable type of heredity According to the rules of addition and multiplication of probabilities for independent events 14

Theoretical calculations on the basis of the investigation of a mutagenic effect of a certain factor in the experiment

T h e m o s t effective f o r m o f p r o p a g a n d a a m o n g physicians is distribution o f special literature with a list o f indications for referring patients to a genetic counseling center a n d symposia, a n d for the p o p u l a t i o n , articles in newspapers and m a g a z i n e s are m o s t effective. Besides the increase in the n u m b e r o f families seeking advice, there was a 9% decrease in unnecessary referrals. W el l - d i r ect ed p r o p a g a n d a significantly changes the n o s o l o g i c p a t t e r n o f patients. T h u s

195

Genetic Consultations in Public Health Service Table 7. Efficiency of different propaganda media Propaganda media

Number of visits per month ARer propaganda

Before propaganda

Booklets with list of indications for referral to the counseling center Papers m journals and newspapers Lectures and talks

Referred On their own

Referred On their own

by Perphysician sonally

By letters

by Perphysician sonally

11

2

2

28

3

2

24 23

2 3

3 2

25 30

6 4

18 2

By letters

lectures in m a t e r n i t y hospitals in Moscow o n 'the role of genetic factors in obstetric p a t h o l o g y ' increased the n u m b e r of visits c o n c e r n i n g s p o n t a n e o u s a b o r t i o n s , congenital m a l f o r m a t i o n s , a n d infertility from 33 to 140. Scientific p o p u l a r articles in newspapers increased the n u m b e r of people coming to the counseling center o n their own, b u t such visits were n o t always necessary. A c c u m u l a t i o n of experience in genetic counseling a n d analysis of results will show in the future how m a n y a n d where counseling centers should be organized.

References Carter, C. O.: Genetic counseling. Lancet 1969I, N 7609, 1303--1305 Carter, C. O., Fraser, J. A. R., Evans, K. A., Buck, A. R.: Genetic clinic: A follow-up. Lancet 1971 I, N 7693, 281--285 Leonard, C. O., Chase, G. A., Childs, B.: Genetic counseling: a consumers' view. N. Engl. J. Med. 287, 433--439 (1972) Sly, W. S.: What is genetic counseling? Birth Defects: Original Article Series 9, 5--18 (1973) Emery, A. E. H., Watt, M. S., Clack, E. R.: Social effects of genetic counseling. Brit. Med. J. 1973 I, 5855, 724--726 Seemanovfi, E., Salichovfi, J., Macek, M., Goetz, P.: Genetic counseling in medical practice. Plzefi. l~k. sb. 31,225--227 (1973) Reynolds, B., Puck, M. H., Robinson, A.: Genetic counseling: an appraisal. Clinical Genetics 5, 117--187 (1974) Hsia, Y. E.: Choosing my children's genes: Genetic counseling. In: Genet. Responsib. Choos. Children's Genes. pp. 43--59. New York-London: 1974 Wendt, G. G., Theile, U.: A pilot scheme for a genetic clinic. Humangenetik 21, 145--152 (1974) Fujiki, N., Okada, X., Tsuda, K., Hosokawa, K., Yamamoto, M., Abe, T., Kondo, M., Saito, R., Shibuya, Y., Nakai, T., Kanazawa, H., Watanabe, T., Kakisaka, N., Wada, T.: Recent trends in genetic counseling. Cong. Anom. 12, 101--112 (1972) Fuhrman, W., Vogel, F.: Genetische Familienberatung, p. 1345. Berlin-Heidelberg-New York: Springer 1975

Received May 27, 1977

Evaluation of genetic consultations in the public health service.

Hum. Genet. 41, 189--195 (1978) © by Springer-Verlag 1978 Evaluation of Genetic Consultations in the Public Health Service N. P. Bochkov and S. I. Ko...
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