pp. 222-225 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.


Copyright 1994, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

Advances in genetic testing and the meaning of genetic counseling: The perspectives of family members of patients with muscular dystrophy

Yasuko Shirai, National Institute of Mental Health, NCNP, Chiba, JAPAN

Makiko Osawa, Department of Pediatrics, Tokyo Women's Medical College, JAPAN

Yukio Fukuyama, Department of Pediatrics, Tokyo Women's Medical College, JAPAN


Introduction

The two main purposes of genetic counseling are the provision to individuals and families of information about heritable conditions and the risks of a disease, and support to help them to cope with their genetic problems using this information. The rapid advances of human genome research have brought with them a considerable increase in the number of diagnosible hereditary diseases. However, we do not have any treatment for most of these detectable genetic diseases. This medical background forces us to respect the client's autonomy and informed choice when practicing genetic counseling. The requirement to respect these principles is even stronger than in the practice of other ordinary medical treatment.

To ascertain whether these principles are respected in the practice of genetic counseling in our society, the present authors conducted an opinion survey concerning the attitudes of family members of patients with muscular dystrophy toward genetic counseling. I would like to present some results of this survey.

Method

The survey was conducted for two different groups. The first survey was carried out from November to December, 1992, with the cooperation of Japan Muscular Dystrophy Association. 150 questionnaires were distributed and 78 valid responses were received. The second survey was carried out in September, 1993, and a total of 28 responses were received from family members of patients living in Tokyo. A total of 106 valid responses were used in the following analysis.

Results

1) Attributes of Respondents and Profiles of Patients

Table 1 indicates the attributes of the respondents and the profiles of the patients. As shown, one out of ten patients is female. The most common type of muscular dystrophy is Duchenne muscular dystrophy (DMD), and in this survey more than 60% of the total number of patients were included within this type. For the following analysis, the respondents were divided into two groups according the type of muscular dystrophy of the patient; one is the DMD group and the other is the "rest".


Table 1: Attributes of respondents and profiles of patients

Respondents; Patients
Gender: Male 42 (39.6%); Female 63 (59.4%); Male 95 (89.6%); Female 11 (10.4%); Unknown 1 ( 0.9%)
Average Age: 49.7 years old (SD=9.0); 22.5 years old(SD=10.5)
Family Relationship: Father 40 (37.7%); Mother 58 (54.7%); Oneself 5 (4.7%); Husband 1 ( 0.9%); Unknown 2 (1.9%);
Types of Dystrophy: DMD 66 (62.3%); Becker 6 (5.7%); Fukuyama 10 (9.4%); Other 19 (17.9%); Unknown 5 (4.7%)


2) Disclosure of Information by Doctors

Table 2 represents the various information which family members were given by the attendant physician. Eighty percent of the total respondents were informed about the nature and prognosis of the disease, while not so many were informed of the relationship between dystrophy and genetic abnormality, or of the availability of carrier tests and prenatal diagnosis. Even for the DMD group, less than 60% were informed these facts.


Table 2: Varieties of information which a doctor disclosed to the family

Types of MD: Nature of the disease; Prognosis; Treatment; Genetic Conditions of disease; Carrier test; Prenatal diagnosis; Other;

DMD

(N=66): 62

(93.9%); 57

(86.4%); 49

(74.2%); 34

(51.5%); 37

(56.1%); 4

(6.1%); 2

(3.0%);

Others

(N=40) 36

(90.0%); 34

(85.0%); 20

(50.0%); 21

(52.5%); 12

(30.0%); 3

(7.5%); 1

(2.5%);

Total

(N=106) 98

(92.5%); 91

(85.8%); 69

(65.1%); 55

(51.9%); 49

(46.2%); 7

(6.6%); 3

(2.8%);


3) Dialogue on Genetic Conditions and Inheritance of Muscular Dystrophy

Figure 1-1 illustrates whether respondents had ever talked about the matter of genetic conditions and inheritance of muscular dystrophy with a doctor. Among the DMD group, 53% of respondents had an opportunity to talk over these matters with a doctor, while 41% had had no opportunity. Among the rest, only 38% of respondents talked over these matters with a doctor, and 55% had had no opportunity.

We then asked those who had had no opportunity to talk over these matters with their doctor, whether they would want to do so. Figure 1-2 shows their answers to this question. More than 40% of respondents in both groups wanted to talk to a doctor; especially concerning risks to the siblings of the patients.

4) Disclosure of Information to Relatives

Figure 2 shows attitudes toward disclosure of genetic information to relatives at risk. Among the DMD group, 46% of respondents approved of full disclosure of detailed genetic information to relatives, while the same number of respondents wanted to limit disclosure to minimal information on the risk. Among the rest, 50% of respondents approved of full disclosure to relatives, while 35% wanted to fix limits. Less than 10% of the total respondents rejected disclosure of any sort of information.

5) Explanation of Carrier Test to Siblings

Figure 3 illustrates attitudes concerning how to explain the carrier test for muscular dystrophy to sisters of a patient. Among the DMD group, nearly 70% agreed that a doctor should explain to sisters, while 20% responded that at the request of sisters or parents the doctor should explain it. Among the other group, the "rest", 58% agreed that the doctor takes the initiative in explaining the carrier test, but 25% answered that the explanation should be done depending on whether there is a request from the sisters or parents.


Figure 1: Genetic Conditions and Inheritance of Muscular Dystrophy
(1): Did you have an opportunity to talk about these issues with a doctor?
(2): Do you want to talk these matters with a doctor?

Figure 2: Family Members' Attitude toward Disclosure of Information to Relatives

Figure 3: Explanation of carrier test for muscular dystrophy:How to explain it to sisters of a patient

Figure 4-1: Consultation for family planning: Have you ever consulted a doctor?

Figure 4-2: Reasons why the respondents didn't consult a doctor
(1) Have no intention to bear any more children
(2) Before being informed of my precise diagnosis, I gave birth to my next child
(3) Other


6) Consultation on Family Planning

Figure 4-1 shows whether the respondents had ever consulted a doctor concerning family planning. Only 12% of respondents among the DMD group and 20% of respondents among the rest had consulted a doctor, while 83% of the DMD group and 70% of the rest had no experience of consultation.

Figure 4-2 indicates the reasons why the respondents didn't consult a doctor concerning family planning. Among the DMD group, 46% of respondents answered that they had no intention of bearing any more children, and 38% answered that they had given birth to their next child before being informed of the precise diagnosis of an afflicted child. Among the other group, 36% had no intention of becoming pregnant, while 21% answered that before being informed of a precise diagnosis they gave birth to their next child.

Conclusion

Based on the present results, the following points can be raised as problems occurring in genetic counseling on muscular dystrophy:

a) Patients and families need not only genetic medical information on muscular dystrophy but also other information such as on the process of the disease, prognosis, possible medical treatment or medical care, and so on. Therefore it is indispensable that information on all aspects of a given type of muscular dystrophy is disclosed, and opportunities to discuss their problems are provided.

b) When a doctor supplies information on the genetic implications of the disease to patients and their family members, he needs to use understandable language and give an explanation suitable to each individual case.

c) Followup counseling and support are necessary for patients and their families after they have been informed either of a precise diagnosis of a patient or the result of a genetic test of family members.

d) It is also indispensable that every effort to provide a precise diagnosis as fast as possible is continued.

Finally I would like to introduce some comments by the respondents. Some respondents commented that they wanted client-centred genetic counseling whenever they need it which gives more information on genetic conditions and inheritance of muscular dystrophy, in easily understandable language and in personal terms whenever they need it.

The present survey was conducted with the support of the Research Committee on the Clinical Symptomatology, Genetic Counseling and Epidemiology of Muscular Dystrophy, supported by the Ministry of Health and Welfare.


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