- Hisanobu Kaiya, M.D.
Executive Director, Japan Muscular Dystrophy Association, 2-2-8 Nishi-Waseda, Shinjuku-ku, Tokyo 162, Japan &
- Darryl Macer, Ph.D.
Institute of Biological Sciences, University of Tsukuba, Tsukuba Science City, Ibaraki 305, JAPAN
Eubios Journal of Asian and International Bioethics 6 (1996), 103-104.
A survey of members of the Japan Muscular Dystrophy Association (JMDA), including patients and families, was conducted in October 1995. Some of the same questions that were included in a 1992 survey (Kaiya 1994) were included to allow comparisons. During the 1994 Annual Meeting in Kyoto a special session on fetal diagnosis and bioethics was included, attended by over 500 persons, which may have been a cause for increased awareness of genetic diagnosis seen in this survey. 60% of patients and 71% of families said they would receive fetal diagnosis. 10% of patients and 24% of families could remember DNA diagnosis of themselves, and most had some type of consent or information.
600 Questionnaires were distributed by JMDA to all 40 Prefectural and city branch heads of the JMDA who distributed them to 300 families asking one family member (F) and one patient (P) to reply. There are about 3000 members of JMDA. The response rates were 81% (N=242) for patients and 67% (N=200) for family members. In 1992 the response rate was 57% (N=303) for patients, and 58% (N=306) for family members, and the results of that survey were presented in the 1994 Annual meeting.
The results of each question are presented with the questions, with some key points of discussion below. The numbers of persons who responded within ages and sexes are indicated below:
Age Pat-M Pat-F Fam-M Fam-F
-19 yrs 11 3 2 0
20-29 51 13 3 3
30-39 31 14 9 11
40-49 39 21 16 60
50-59 25 17 34 42
60-69 6 8 8 7
70yrs + 2 0 1 3
Families are older than patients, and the fact that there were few family members less than 40 could lead to some bias when comparing the two groups.
Q6. Is muscular dystrophy a genetic disease? Yes or Other (Chi=Chi squared)
P92 52% Yes; P95 72% Yes; Chi=8.5, d=1, p=0.004
F92 60% Yes; F95 72% Yes; Chi=3.2, d=1, p=0.07
In both groups there has been a significant increase in understanding that MD is a genetic disease, though still significant numbers do not know it is.
Q7. Do you know that there is a possibility to use DNA diagnosis? Yes or Other
P92 36% Yes; P95 64% Yes; Chi=15.7, d=1, p=0.00007
F92 38% Yes; F95 67% Yes; Chi=18.9, d=1, p=0.00004
In both groups there has been significant increase in the awareness, from about one third in 1992 to two thirds in 1995. This could be the result of both increased education and also increased availability from doctors. This was also confirmed in the later question on personal experience of DNA diagnosis.
Q8. Do you want to receive DNA diagnosis? (%)
Answer P92 P95 F92 F95
Strongly 24 19 23 32
Maybe 38 42 43 40
No 5 7 4 7
Consult Doctor 9 10 15 8
Don't know 10 14 8 8
Other 13 9 5 6
Chi 0.76 3.35 d=3
p= 0.86 0.34
DNA diagnosis is not often used for analysis of patients because other methods can determine the type of MD that most people have. This question finds 7% objecting to it strongly, others are positive or cautious.
Q9. Would you receive fetal diagnosis? (%)
Answer P92 P95 F92 F95
Yes 65 60 80 71
No 16 20 11 10
No answer 19 21 9 19
Chi 0.74 4.75 d=2
p= 0.69 0.093
There has been a trend for less acceptance of fetal diagnosis, however still the acceptance rates are high. We can compare the public acceptance from mailed surveys by Macer in 1991, 1993 (Macer, 1994) which were 57/61% Yes, 17/16% No, and 26/23% Don't know, respectively. More family members desire screening than the general public. We should also note this contrast with members of the Japan Association of Bioethics (JAB95) (Macer et al. 1996), where 42% Yes, 39% No, and 19% said Don't know. They are more negative to fetal diagnosis, and some cite reasons that handicapped persons do not want the screening. However, this survey finds that patients with MD are significantly more accepting of fetal diagnosis than academics who often claim to protect them.
Q10. If you know the fetus will have the disease what would you do? (%)
Answer P92 P95 F92 F95
Abortion 42 31 65 55
Not abort 30 41 20 26
No answer 29 29 14 20
Chi 3.36 2.65 d=2
p= 0.19 0.27
There are significant differences between patients and families for the abortion question, over the differences in the fetal diagnosis question. There is a trend for less acceptance in both groups. In a general question on abortion of a fetus with congenital abnormalities in 1993 in the public (Macer 1994), the responses were less decided: 51% Yes, 12% No, 28% Don't know. The JAB95 responses were: 49% Yes, 21% No, and 30% Don't know, with a 20% saying no, more than 12% in the public.
Q11. Have you experienced DNA diagnosis? (%)
Yes 10 24
Maybe 10 12
No 57 51
Don't know 19 10
No answer 4 3
Q12. If you have experienced DNA diagnosis, did you receive informed consent or some information from the doctor about prenatal diagnosis? (%)
P95 (N=51) F95 (N=80)
Paper 12 5
Oral 43 60
Maybe 16 15
No 8 10
Don't know 22 10
Q13. Did you accept the DNA diagnosis after informed consent? (%) P95 F95
Yes, paper 2 7
Yes, oral 45 49
No 30 30
Don't know 23 13
These three questions reveal that some of the respondents had personal experience of DNA diagnosis, and this proportion is growing. As noted above, DNA diagnosis is not necessary for many patients, however it can identify those at risk or carriers. The majority of consent involved oral discussion rather than written information, which is typical of consent practice in Japan in general (see also the paper by Asai in this issue). 30% did not accept diagnosis after consent, compared to 7% who said no to the general question above asking them if they would like to undergo DNA diagnosis. This suggests that the counseling may give them a more negative opinion, or that the doctor may have advised that the diagnosis was not necessary to provide any new information.
Q14. What do you think about preimplantation diagnosis? (%)P95 F95 JAB95 (Macer et al. 1996)
Accept 33 52 36
Don't accept 31 19 52
Don't know 24 17 7
No answer 12 12 5
Q15. Reasons why you don't accept preimplantation diagnosis? (%) P95 F95 JAB95
Don't want child 27 13 4
Ethical issues 42 47 60
Sounds expensive 3 9 1
Other 27 31 36
The attitudes to preimplantation diagnosis are more negative than to fetal diagnosis in general, above. The principle reason was ethical issues, with a significant proportion of the JMDA members also saying that they did not want a child. The JAB sample was most negative, with half not accepting the technique, and families were most accepting.
Q16. Do you think some legal regulation is needed for DNA diagnosis? (%)
Answer P92 P95 F92 F95
Not necessary 20 18 24 19
Necessary 52 57 50 53
No answer 28 26 26 29
Chi 0.41 0.83 d=2
p= 0.82 0.66
There was some trend for more to say that legal regulation was necessary, but it was not significant. More than half think that it is necessary. Currently there is no law on DNA diagnosis in Japan, and a law is not foreseen at present. There are some guidelines on DNA diagnosis, for example, those from the Japan Society of Human Genetics.
There are a variety of reasons why people wish to take DNA diagnosis. In the case of Huntington's disease, a dominant late onset genetic disease there have been numerous studies suggesting about half of the people at risk take the gene test. Also in a hypothetical situation about half of young women decided to take the test, and those who did not desire such a test preferred not to "know everything in advance" as opposed to "having more certainty about the future" (Decruyenaere et al. 1993). In the case of MD likewise this could be one reason not to desire to know the precise DNA diagnosis, although in the case of MD there is generally a longer period of life when suffering from the disease.
There have been a number of studies on attitudes towards prenatal diagnosis and selective termination of affected fetuses in patients and relatives of patients with a genetic disease. In a survey in Belgium of 109 aunts and uncles of children with cystic fibrosis (Denayer et al. 1992), the attitudes to prenatal diagnosis were 73% Yes, 6% No, 14% Don't Know, 7% No answer; and to pregnancy interruption, 43% Yes, 24% No, 26% Don't know, and 7% No answer. In earlier studies, 65% of parents chose to abort an affected fetus in Belgium (Evers-Kiebooms et al. 1990), 52% in Wales (Al-Jader et al. 1990). A UK survey of CF patient parents (N=170, Watson et al. 1992) found somewhat more decided attitudes to prenatal diagnosis, 74% Yes, 17% No, 9% Don't know; and to termination, 44% Yes, 33% No, and 23% Don't know. A contrary result to these studies is from Wertz et al. (1991), and when parents were given a variety of cases of fetal condition, or disease, only 20% said that they would abort the fetus. Another US study of religious groups, Amish, Mennonite, Hutterite, Rochester and Intermarried, examined attitudes of parents, siblings and aunts and uncles (Miller & Schwartz 1992), and found a wide range of attitudes from 14-78% saying Yes to prenatal diagnosis. In a study in the early 1980s of parents in the USA (N=414), 82% said Yes, 8% No, and 10% Don't know (Kaback et al. 1984). Those results are an extreme contrast to the study of Wertz et al. and suggest that either attitudes have changed, and/or that the questionnaire may have had a large impact on the answers.
The results in this study in Japan are for MD, a different disease, and of great variety of expression. When the attitudes are compared we find the results consistent with the European studies, and not with the recent US study cited above. This study supports the provision of prenatal diagnosis services to persons who suffer from serious diseases, and finds that their attitudes to the testing are at least as supportive as the general public, and often more supportive.
Al-Jader, LN. et al. "Attitudes
of parents of cystic fibrosis children towards neonatal screening
and antenatal diagnosis", Clin. Genet. 38 (1990),
Decruyenaere M. et al. "Perception of predictive testing for Huntington's disease by young women: Preferring uncertainty to certainty?", JMG 30 (1993), 557-61.
Denayer, L. et al. "Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis", AJMG 44 (1992), 104-11.
Evers-Kiebooms, G. et al. "A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis", Clin. Genet. 37 (19900, 207-15.
Kaback, M. et al. "Attitudes toward prenatal diagnosis of cystic fibrosis among parents of affected children", In Lawson D., ed., Cystic Fibrosis: Horizons (New York, John Wiley & Sons, 1984).
Kaiya, H. "Attitudes of patients and families to DNA diagnosis", Karuda no Kagaku 181 (1994), 118-23.
Macer DRJ, Bioethics for the People by the People, Eubios Ethics Institute, Christchurch, 1994.
Macer, D. "Genetic technology and bioethics", Karuda no Kagaku 181 (1995), 124-7 (In Japanese).
Macer D., Niimura, Y., Umeno, T. & Wakai, K. "Bioethical attitudes of Japanese university doctors, and members of Japan Association of Bioethics", EJAIB 6 (1996), 33-48.
Miller S.R. & Schwartz, R.H. (1992) "Attitudes toward genetic testing of Amish, Mennonite, and Hutterite Families with Cystic Fibrosis", American J. Public Health 82: 236-242.
Wertz, D.C. et al. (1991) "Attitudes toward abortion among parents of children with cystic fibrosis" American J. Public Health 81: 992-996.
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