Attitudes of MD patients and their families to DNA banks in Japan

- Hisanobu Kaiya, M.D.
Executive Director, Japan Muscular Dystrophy Association, 2-2-8 Nishi-Waseda, Shinjuku-ku, Tokyo 162, JAPAN &
Email: nmc@gld.mmtr.or.jp

- Darryl Macer, Ph.D.
Institute of Biological Sciences, University of Tsukuba, Tsukuba Science City 305-8572, JAPAN
Email: asianbioethics@yahoo.co.nz
Eubios Journal of Asian and International Bioethics 9 (1999), 10-12.


The issue of DNA testing is posing many ethical dilemmas for families who suffer from genetic diseases, such as muscular dystrophy (MD). Previous surveys in 1992 and 1995 (Kaiya and Macer, 1996) have found that families of patients with MD are the most enthusiastic groups towards fetal diagnosis in Japan (Macer, 1996), and patients themselves are also very supportive.

In 1998 questionnaires on the subject of DNA banks were posted to 500 patients and 500 of their family members. The response rate of the patients was 66.2% and that of their family was 63.6%. The first question asked whether the respondents had given blood samples for DNA diagnosis. Of the patients, 29% said Yes, and 69% said no; and a similar proportion of families (31% yes, 68% no), suggesting that both family and patients have been involved in DNA testing.

The next two questions were for those who answered yes, the 96 patients and 98 family members. The results are below for patients and family members (as in all results the first number is patients and second number from family members):

Q2. What was the purpose of your DNA diagnosis?
To decide your diagnosis
49 (51%) 33 (34%) p=0.0002
For carrier diagnosis
20 (21%) 45 (46%) p=0.031
To know if you will become ill in future
3 ( 3%) 8 ( 8%)
For prenatal diagnosis (fetus diagnosis)
2 ( 2%) 6 ( 6%)
Other (Please write down the concrete reason)
5 ( 5%) 5 ( 5%)
You cannot remember
15(16%) 7 ( 7%)

Q3. Did your doctor explain the content of the DNA diagnosis when you had it? Did you consent to have it then?
An oral explanation and oral consent
65 (68%) 70 (71%)
An oral explanation and written consent
1 ( 1%) 3 ( 3%)
A written (and oral) explanation and written consent
0 ( 0%) 6 (6%)
You had no explanation from your doctor
15 (16%) 3 ( 3%) p=0.003
You cannot remember
16 ( 7%) 14 (14%)

Q2 looked at the reasons for the test, and found 51% of the patients had the test to decide their diagnosis, and 46% of their family members had it for the carrier diagnosis. About 70% of the patients and 80% of their family members had informed consent in some way, as found in Q3.

The next question was asked to all the respondents to the survey about what to do with the DNA samples. More than half of each of the patients and their family were affirmative to keep their DNA.

Q4. Do you wish your DNA (blood) to be kept or disposed of immediately after the test?
You wish it to be kept
198 (60%) 167 (53%)
You wish to dispose of it immediately
31( 9%) 38 (12%)
You cannot choose
99 (30%) 104 (33%)

Those who answered they wish it to be kept, were asked "Q5. For what reason do you wish to keep your DNA? (You can choose multiple answers.)
To confirm the result of the re-test
96 (48%) 74 (44%)
For genetic counseling of your family (For example, have a child or not)
100 (51%) 106 (63%) p=0.013
For medical study
137 (69%) 104(62%)
Other (Please write down the concrete reason)
3 (2%) 3 (2%)

Significantly more family members answered that their purpose was for genetic counseling (63%), more than 51% of the patients. And there was a statistically significant difference between the number of the patients and their family. About two thirds of both groups also said that they would like the sample kept for medical study, and altruistic motive. The next question asked where it was best to keep these samples.

Q6. Where do you think the best place to keep the DNA (blood)?
The National Hospital or the Hospital in Affiliation with the University you visit
77 (39%) 61 (37%)
Concentrate and keep them in the National Mental and Neurology Center or a suitable place
81 (41%) 80 (48%)
Private companies or laboratories which accept the DNA diagnosis
10 (5%) 6 (4%)
Japan Muscular Dystrophy Association (JMDA)
26 (13%) 19 (11%)
Other (Please write down a concrete answer)
0 (0%) 3 (2%)

It found that more people thought it was better to concentrate them in the National Mental and Nervous Center or a suitable place rather than the National Hospital or the Hospital in Affiliation with the University where the testing is done. The other two options were not popular. The next question is who should supervise, and then for how long the samples should be kept.

Q7. Which way do you think the best to supervise the DNA (blood)?
Leave them to a Private Test Company
7 (4%) 3 (2%)
Leave them to the local medical facilities
68 (34%) 56 (34%)
Keep them concentrated and leave to the JMDA (the group of the patients and those entrusted) to consider the protection of privacy
107 (54%) 94 (56%)
You cannot choose
5 (3%) 11 (7%)
Other (Please write down a concrete answer)
1 (1%) 2 (1%)
Q8. How long do you think is the necessary term to keep the DNA (blood)?
Up to 10 years
45 (23%) 40 (24%)
Between 10 years to 30 years
76 (38%) 77 (46%)
More than 30 years
51 (26%) 32 (19%)
Other (Please write down a concrete answer)
11 (6%) 8 (5%)

Over 70% of both patients and family members answered that the DNA should be kept for more than 10 years. The next question was addressed to all the respondents again,

Q9. Do you think it is reasonable not only to use your blood for diagnosis of your own illness, or genetic counseling, but also to use it in other ways, that is to say, for medical study?
You can consent if it is used for only the study of muscular dystrophy
163 (49%) 143 (45%)
You can consent if it is used for any medical study
104 (31%) 94 (30%)
You would not consent that it is used for any study
15 (5%) 19 (6%)
You cannot decide
34 (10%) 45 (14%)

In this question, only a third of the people consented to it being used for general medical studies. The next three questions were only asked to those who gave the first two answers, that is, agreed to medical research on their samples. 43% of both patients and their family members thought it was better that they could be personally identified by their DNA, more than those who thought it was better that they can not be (30%). Over half of both groups wish to be asked for their consent.

Q10. It is natural that the staff protects your privacy when your DNA (blood) is used for the medical study. However, do you consent to the fact that students can identify you by your DNA after it is handed over to them (A code which shows your name and the date of your birth is written on the vile of your DNA)? Otherwise does the staff have to keep it secret (Your name and the date of your birth are not written)?
You think it is better to write your information by code so they can identify the DNA as yours in future
115 (43%) 101 (43%)
You think it is better that the vile with your DNA does not have anything written and nobody can identify you
79 (30%) 68 (29%)
You cannot choose
48 (18%) 42 (18%)
Other (Please write down a concrete answer)
8 ( 3%) 4 (2%)

Q11. Should the students have to ask for your consent before they use your DNA (blood) for medical studies?
They don't have to ask for your consent
62 (23%) 62 (26%)
They have to ask for your consent whenever they make a new study
105 (39%) 79 (33%)
Once they ask for your consent, they don't have to do anymore
61 (23%) 63 (27%)
You cannot choose
19 (7%) 16 (7%)

Q12. After you have your DNA tested, do you wish to know further facts as a result of the further medical studies?
You wish to know some new facts about your DNA
150 (56%) 128 (54%)
You wish to know only the facts which seriously affect your life
68 (25%) 63 (27%)
You have already been explained about your disease, so you wish not to know the other things
13 (5%) 18 (8%)
You cannot choose
17 (6%) 15 (6%)

Over a half of the patients and their family members wish to know any results of medical studies on their DNA, while a further quarter wish to know only the relevant facts for them (Q12). Over 70% of the people did not know that DNA from their samples is kept (Q13).

Q13. To tell the truth, most of the DNA (blood) which is taken for DNA diagnosis is kept. Do you know that truth?
Yes 26 (8%) 27 (8%)
No 244 (74%) 228 (72%)
You cannot remember 29 (9%) 21 (7%)

Q14. How do you feel about that situation?
Since your blood was sampled with considerable trouble, you don't mind wherever and whatever it is used for as long as your privacy is protected
66 (20%) 69 (22%)
You don't mind if it is kept only for diagnosis of yourself or genetic counseling of your family
129 (39%) 112 (35%)
You don't mind if it is used by the medical facilities where you were under the care
10 (3%) 15 (5%)
You donated your blood only for DNA diagnosis at that time. So you wish to dispose of it at once. If they need the re-test for you or your family, you don't mind to give more of your blood at any time
46 (14%) 42 (13%)
You cannot choose
38 (11%) 37 (12%)
Other (Please write down a concrete answer)
11 (3%) 10 (3%)

More than half of the patients and their family members thought that they didn't mind if their DNA was used for the diagnosis of themselves or genetic counseling of their family as long as their privacy was protected. The next question addressed privacy and was addressed to all respondents. 70% of both patients and their family think that we need a law to regulates the way of handling the DNA. More than half agreed that it is reasonable to keep the DNA concentrated in a DNA bank and for the JMDA (patient group), medical workers and the students, and the government which is in charge of these things to manage it (Q16). Most of the patients and their family think it reasonable to deposit their blood with the DNA bank for various reasons as chosen in Q17.

Q15. They have to pay great attention to protect the privacy because DNA is a blueprint of an organism. Do you think that we need a law to regulate the way of handling the DNA?
We need the law, which regulates the way of handling DNA to protect the privacy
229 (69%) 221 (69%)
We don't need the law which regulates the way of handling the DNA, in order to promote free study and the progress of medical science
45 (14%) 33 (10%)
You cannot choose
41 (12%) 43 (14%)

Q16. Which is the best way to manage the maintenance and the use of DNA (DNA bank)?
Leave them in the private companies, which contract the DNA tests
15 (5%) 4 (1%)
Leave them in National Sanitariums, National Hospitals or the Hospitals Affiliated with Universities at each location
73 (22%) 74 (23%)
Keep them concentrated by the JMDA (the patient group), the medical workers and the students, and the government which is in charge of these things
178 (54%) 167 (53%)
You cannot choose
52 (16%) 58 (18%)
Other (Please write down a concrete answer)
8 (2%) 8 (3%)

Q17. Can you accept to leave your blood in the DNA bank? (You can choose multiple answers.)
You leave it for the diagnosis of your illness
159 (48%) 86 (27%)
You leave it for family planning of your descendants
102 (31%) 125 (39%)
You leave it for the gene therapy in future
133 (40%) 138 (43%)
You leave it for the study of the muscular dystrophy
172 (52%) 152 (48%)
You leave it not only for the study of the muscular dystrophy but also for the any medical study
93 (28%) 87 (27%)
You wouldn't leave it in any place
15 (5%) 20 (6%)

Discussion and Conclusion

This study found one third of Japanese MD patients and their families had given blood for a DNA test. This number is increased form the 1995 survey which found 10% of patients and 24% of families could remember DNA diagnosis of themselves, and most had some type of consent or information. In this survey, more than half of the people who had actually had a DNA test said that they were glad their DNA was kept. The reasons for this were mixed, with 51% of the patients and 63% of their family answering it was for genetic counseling, and over 60% of both patients and their family answering for medical studies. Half, 49% of the patients and 45% of their family members were positive to the use of their DNA especially for the study of MD, while 30% were affirmative to the use of their DNA for any medical studies. More than half of the patients and their family agreed to use the DNA for the medical studies and wished to know the results of the studies for them.

Regarding regulation, 70% each of the patients and their family thought it necessary to regulate by the law when using DNA. More than half of the patients and their family members agreed to the idea that the DNA samples would be concentrated in the National Center for Mental and Neurological Disorders if it was managed by the JMDA (the patient group), medical workers and students, and the government department which is in charge of these things. A majority of patients and their family members thought it was reasonable to deposit their DNA. 70% each of the patients and their family thought it necessary to keep DNA for more than 10 years.

We can compare the altruistic donations with the principles in statements on DNA storage, such as the HUGO Statement on DNA Sampling: Control and Access [EJAIB 8 (1998), 56-7]. There is a need for long term storage of the DNA samples, and for contacting the families when further information is obtained. The patients and families were mixed in their concerns and needs, and this survey revealed the extent of DNA testing conducted in Japan, although most did not know that their DNA samples were kept and used for further research. Prenatal diagnosis was one of the main reasons besides personal health information. In the 1995 survey 60% of patients and 71% of families said they would receive fetal diagnosis. Prenatal diagnosis raises additional ethical issues (Macer, 1998).

Already many tissue samples have been collected around the country, as we expect in other countries as well, and guidelines need to protect the privacy of families, while supporting medical research to cure this disease and support genetic counseling for the majority that have expressed in earlier surveys that they seek.

References
Kaiya H, & Macer D. "Japanese muscular dystrophy families are more accepting of fetal diagnosis than patients", EJAIB 6 (1996), 103-4.
Macer, Darryl (1996) "The challenge of universal bioethics and genetics", pp. 70-72 in Protection of the Human Genome and Scientific Responsibility , Eds: M. Okamoto, N. Fujiki, & D.R.J. Macer, (Eubios Ethics Institute 1996).
Macer, Darryl R.J. (1998) "Ethics and Prenatal Diagnosis", pp. 999-1024 in Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, eds. Milunsky, A. (John Hopkins University Press 1998).
This paper has also been published in Japanese by H. Kaiya, Kinjisutorofii no idenshi iryou ni okeru mondaiten-Heisei 7,8,9 nendo kenkyuuhan houkokusyo,"Shinkei, kinshikkan no idenshi shindan shisutemu no kakuritsu to idenshi banku no juritsu ni kansuru kenkyuu" han (Nonaka Masaya hantyou) buntan kenkyuu, Kouseisyou, Seishin, shinkei shikkan kenkyuu itakuhi (7Shi-5) .


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