Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.
Makiko Osawa, Ayako Muto, Yumi Shiraiwa, Kyoko Hirasawa, Reiko Yoshida, Hiroko Murasugi, Zhi-Ping Wang, Ekuko Nakada, Masako Sakauchi, Yukio Fukuyama (Dept of Pediatrics, Tokyo Women's Medical College), Mari Osawa (Tokyo Women's Medical College), Hitoshi Osawa (First Department of Internal Medicine, Teikyo University), Yasuko Shirai (National Institute of Neuroscience, National Center of Neurology and Psychiatry).
Most of the tables in this paper are not on-line.
Recently, progress in molecular genetics has been very rapid. The number of diseases for which gene analysis of patients, carrier detection, and prenatal diagnosis has become available has increased tremendously and this trend is expected to continue. Along with these dramatic advances, the decision making process in genetic counseling (GC) has become more comprehensive and now presents difficult ethical challenges. The ethical considerations dealt with in medicine should be analysed from four perspectives: the ultimate goal of providing medical care, the value of life, patient autonomy and simultaneously maintaining candour and confidentiality. In our experience, implementation of a GC program can best be accomplished if preceded by an adequate understanding of the general public's perceptions of GC and its inherent ethical issues. Our preliminary goal is not to change public attitudes towards GC but rather to gain insight into how members of the public perceive the role, if any, of GC in our society.
As members of a research group designated to establish a GC system supported by the Ministry of Health and Welfare, the authors have conducted a preliminary study to ascertain the general public's view of GC. The results of that study are presented herein.
Subjects and Method of Study
Surveys, using questionnaires distributed to individuals representing a cross section of the general public, were conducted from January through July, 1993. There were 907 respondents. There were 67 parents (9 men, 58 women) of outpatients, and a few outpatients themselves, who were visiting our clinic and who understood the purpose of this study and agreed to fill out the questionnaire while waiting for medical services; 49 parents (4 men, 45 women) of children attending a special preschool, at an institution for the handicapped, who answered while waiting for their children; and 21 staff members (8 men, 13 women) of the fore-mentioned institution who answered during their working hours. Students, including 204 second to fourth year female medical students in Tokyo; 55 nurses aids (2 men, 51 women, 2 unknown) in training in Saitama prefecture, 231 female nursing students in Tokyo; 10 women attending a midwifery course in Tokyo; and 59 undergraduates in liberal arts (19 women and 40 men) in Tokyo who filled out the questionnaires between classes. Finally, 211 questionnaires were distributed to the employees (188 men, 23 women) of various pharmaceutical companies and the responses were collected by mail.
The full questionnaire is available from the first author. A limited explanation of GC, as well as the possibility of GC with gene analysis and prenatal diagnosis, were provided. Background information on the respondents, as well as any experience or knowledge of GC, was first ascertained. Then, respondents were asked to assess the significance of various possible goals of GC, the role, attitude and behaviour of genetic counselors, financing of GC, appropriate topics for GC, such as gene analysis, carrier detection and prenatal diagnosis, the duration and number of GC sessions, and the setting for GC. In addition, opinions were sought on ethical issues such as the necessity of informed consent, the depth of explanation required for all topics included in GC, and client autonomy.
In total, we received 907 responses to our questionnaire. The age distribution is shown in Table 1. The residence distribution of all respondents is shown in Table 2. Data concerning prior experience with or knowledge of GC are shown in Table 3.
1) Knowledge of genetic counseling, and inheritance concerns
Among the 907 respondents, 62% (especially liberal arts students) had never heard of GC but 32% (41% of family members, 44% of liberal arts students) had, at some point, had inheritance-related concerns. When asked to specify what these concerns were, a very wide range of responses was obtained. Notable areas of concern included cancer, hypertension, heart disease, diabetes mellitus, allergies, body type, character, mentality, Huntington's chorea,
Table 2: Residence distribution of respondents
Table 3: Previous knowledge of genetic counseling and personal genetic concerns
Table 4: Source of exposure to the term "Genetic counseling"
senility, psychiatric disorders, epilepsy, mental retardation, cleft lip and palate, chromosomal abnormalities and AIDS. Women, in particular, had non-specific anxieties about pregnancy and delivery as well as the risks associated with advanced maternal age.
The sources from which information about GC was obtained are shown in Table 4. A total of 342 respondents had heard of GC and the most common sources were school, 53%, newspapers, 33%, and television, 31%. In addition, 26%, notably the medical students, preschool staff and parents of patients, had also obtained some information from medical texts.
The questionnaire results revealed that the different groups surveyed had obtained their information about GC from different sources. Among the parents of patients, radio and television were each the source for 36%. The most common source for staff members at the handicapped facility was newspapers (43%) followed closely by television and medical texts (36%). The majority of liberal arts students and pharmaceutical company employees, 60%, had obtained their information on GC from newspapers. For medical and nursing students, in contrast, the most common source was school.
3) The goals of GC (Table 5 a-f)
Almost 95% of respondents indicated the importance of helping individuals or couples cope with the distress and anxiety associated with genetic problems (Table 5a) . Nearly the same number felt that putting genetic problems into perspective, thereby allowing clients to handle such issues appropriately, was also an important goal of GC (Table 5b) . Assistance and support for couples desiring their own children was identified as an important part of GC by 83% (Table 5c) . Overall, the prevention of inheritable diseases and abnormalities was considered an important aim of GC by 88% of respondents. However, this response was not uniform among the groups surveyed. Approximately 90% of students and pharmaceutical company employees held this view, while only 80% of patient family members and 57% of staff members at the handicapped facility were of this opinion (Table 5d) . Reducing carrier numbers in the general population was identified as an important goal of GC by 64% of respondents. Again, this opinion was less prevalent among the handicapped facility staff (33.4%) (Table 5e) . Reducing the frequencies of deleterious genes in the general population was considered to be important by 57% of respondents. Only 19% of the handicapped facility staff were of this opinion while 55% of patient families, 53% of medical students, and more than 60% of the other groups responded that this was at least somewhat important as a goal of GC (Table 5f) .
a. Relieve the distress and anxiety of patient families.
b. In dealing with couples seeking GC, counselors should put genetic problems into proper perspective such that the clients can manage these issues in appropriate ways.
c. To provide assistance and support for couples whose goal is to have their own children.
d. Prevention of genetic diseases and/or abnormalities.
e. Reduction of the number of carriers in the general population.
f. Reduction of the frequencies of deleterious genes in the general population.
Table 6: (Q4) The following items pertain to the role of genetic counselors. Please rank each, as above, according to importance. a. Providing comprehensible information on medical aspects of the disease. b. Educating clients about the genetic aspects of the disease, including risk of recurrence, such that they can assess their own situation. c. Fully inform clients of all available options. d. Assist clients in the decision making process, balancing their own goals with the recurrence risk. e. Once the decision has been made, practical advice for achieving the clients goals should be offered. f. Helping patients and their families accept and cope with the disease. g. Helping clients cope appropriately with the risk of recurrence. Sample numbers the same as for Table 1-4.
The functions of genetic counselors considered to be most important (in order of decreasing importance) were: helping patients and families accept and cope with the disease (f), helping clients cope with the recurrence risk (g), providing comprehensible information on the medical aspects of a disease (a), assisting in decision making (d), client education (including recurrence risk) (b), providing practical advice for achieving goals (e) and fully informing clients of all options (c), were considered to be very or somewhat important by 94.4%, 92.9%, 92.6%, 88.2%, 84%, 77.5% and 72% of the respondents, respectively. As to item (d), more than 60% of the preschool staff, medical and nursing students responded that this was very important, while less than half of the patient family members, employees, and liberal arts students considered this to be very important.
5) Appropriate demeanour for a genetic counselor (Table 7 a-e)
Table 8 shows results pertaining to appropriate behaviour of a genetic counselor in dealing with clients. The vast majority of respondents, 92%, felt that providing assurance in advance that the counselor is prepared to support self-determination (b) was important. At the same time, giving practical advice on what the client should do (e) was considered very important by 31% and somewhat important by 33%, i.e. 64% felt that this was an appropriate counselor attitude. As to item (a) , 81% of preschool staff responded that this is important, more than any of the other groups. As to items c, d and e, 52%, 9.5% and 52%, of preschool staff identified these roles as important, less than those of the other groups. As to item e, the proportion of medical students who indicated that this is important, 52%, was lower than those of other groups.
Table 7: (Q5) The following items deal with the attitudes and behaviour of counselors when working with clients. Please rank the importance of the following:
a. The counselor states his/her intention, in a non-judgemental way, such that the clients can make their own decisions.
b. The counselor assures that any decision they make will be respected and supported.
c. The counselor provides practical examples of what other people in the same situation have done.
d. The counselor tells the clients what he/she would do in the same situation.
e. The counselor should provide practical advice about what clients should do.
6) Necessity of genetic counseling with gene analysis
In response to the question "What do you think of gene analysis and prenatal diagnosis?", 72% of respondents indicated that GC with detailed gene analysis is necessary (21.9% "essential", 50.2% "preferable"), though 23.3% were uncertain and 4% gave negative responses (2.5% "probably should not be done", 1.4% "definitely should not be done"; 0.7% no answer).
7) Appropriate settings for GC
A number of respondents thought it better to conduct GC in a familiar setting, such as a private clinic or health centre. On the other hand, some indicated that a university hospital or special research centre would be preferable.Most felt that situations demanding further support and education necessitated visiting a tertiary care institute for GC.
Table 9: (Q7-4) Which of the following would be suitable topics for GC?
In response to the question "How many GC sessions are necessary to deal adequately with one problem?", 30.9% of respondents felt that 2-3 sessions would be optimal and 31.9% answered that adequate GC could be accomplished in 3-5 sessions. Only 1.2% said 1 session was needed. 34.4%, however, advocated continuing more GC sessions, most saying they should continue until clients were convinced to take the appropriate course of action. 1.7% gave no answer.
9) Duration of one GC session
The appropriate duration of a GC session was asked. "Thirty minutes to an hour", "one to one and a half hours", and "10-30 minutes" were felt to be optimal durations for GC sessions by 41%, 22.3% and 13% of respondents, respectively. 0.7% said "no more than 10 minutes", 3.5% said "more than one and a half hours". 17.7% gave "Other", including just over 5% who advocated continuing a session for as long as necessary to convince the client to follow the counselor's advice. 1.8% gave no answer.
10) Items which should be included in genetic counseling
The cause of a disease (a) and the clinical course, prognosis and treatment of a disease (b) , were considered necessary by more than 80% of respondents. More than 56% of respondents thought that gene analysis for patients and carriers, as well as prenatal diagnosis, were essential. Few felt, however, that discussing artificial fertilization to prevent sex-linked disease,or adoption as an alternative to having one's own children, would be appropriate in GC.
11) Informed Consent
Table 10 a-c outlines responses to items concerning the type and amount of detail which should be provided in explaining gene analysis, carrier detection and prenatal diagnosis. Explaining the type of examination, providing detailed information about accuracy, and specifying the advantages and disadvantages of these procedures were all ranked as essential by about a half, and recommended by a quarter. For prenatal diagnosis, responses were also sought as to the importance of any potential influence on the mother or the fetus, as well as the risk of abortion, as shown in Table 10c. Explaining the test's impact on the mother was ranked as essential by 73%, the impact on the fetus by 76%, and in terms of the abortion risk by 70%.
Most respondents felt that the cost of GC should be covered by insurance or some form of public support, when asked "How should GC be financed?". Nearly half (48.5%) felt that insurance should cover the cost of GC, while 20.0% and 22.1%, respectively, favoured complete or partial government reimbursement. Only 6.6% said "self-payment, as no treatment is involved", 0.9% gave "other", 2.0% gave "no answer". Full government reimbursement was the predominant view among the parents of patients (27.6%), handicapped facility staff members (23%), and male company employees (31.4%), whereas female company employees (30.4%), medical (31.4%) and nursing (23.3%) students tended to favour partial reimbursement.
13) Financing of gene analysis
The total numbers of respondents favouring full and partial government reimbursement for gene analysis were comparable to those for GC, though more respondents, particularly the parents, staff members, and liberal arts students, tended to favour partial reimbursement. In contrast, smaller proportions of company employees and medical and nursing students favoured partial reimbursement. Only 4.4% felt that clients should bear the full cost of gene analysis. 47.7% felt that insurance should cover the cost of GC, while 23.4% and 21.1%, respectively, favoured complete or partial government reimbursement. Only 4.4% said "self-payment, as no treatment is involved", 1.2% gave "other", 2.2% gave "no answer".
14) Solicited opinions
We solicited the opinions of respondents to any aspect of the survey they wished to comment on. Reactions to the concept of GC, and the associated services of gene analysis and prenatal diagnosis, ranged from strongly positive to cautious and even rather negative. One woman, the mother of a boy with Duchenne muscular dystrophy, advocated offering educational courses in genetics to young couples contemplating marriage and starting a family. At the opposite pole, far more respondents were concerned about the potential commercialization of GC and the loss of individual privacy. Even those who felt that GC, prenatal diagnosis and gene analysis were necessary, advocated limiting the use of these services to clearly appropriate cases.
To obtain the most reliable estimate of the population perceptions of genetic counseling, respondents must be randomly selected. Those who agreed to participate in this study are all residents of the Kanto area, and they could contact members of our study group for further information or clarification should they have any concern stemming from the questionnaire itself. That these opinions were obtained from people with this background, must be considered.
The questionnaire itself provided information about the complex issues of GC, prenatal diagnosis, carrier detection and gene analysis. These are unfamiliar to most non-medical persons, and must therefore be explained to a limited extent. Simply reading the explanation of GC provided on the first page of the questionnaire provides the respondent with considerable insight into the purpose of GC.
Two noteworthy observations made in the course of analyzing data from this survey were the disparity between those having genetic concerns and actually being aware of GC, and the heightened anxiety of women over men, regarding inheritance-related problems. The liberal arts student and pharmaceutical company employee groups illustrate both points. Overall, 44.1% of the liberal arts students had genetic concerns. This figure was 57.1% for female students. However, 91.5% of the students, and 100% of female students, had never heard of GC. Among the pharmaceutical company employees, more than 80% of whom were men, both genetic concerns and prior knowledge of GC were rare. The relative lack of concern over genetic issues, in this group, can be attributed to its primarily male composition. Maybe in our society women are far more likely than men to harbour anxieties about pregnancy and the health of offspring. Unfortunately, members of the general public tend to be unaware of GC services. There is a critical need for education which addresses these concerns. The basic understanding of genetic problems provided by education can allay much of the anxiety associated with hereditary disease.
As the human genome project proceeds, the number of diseases, abnormalities and carrier states which can be detected will increase dramatically. This raises the possibility of a rather extreme scenario in which all couples can form their own ideal image of a human being and employ advanced genetic techniques for the purpose of having ideal offspring. In such a world, individual variations or characteristics might be viewed as unacceptable imperfections. In this survey, the response that seemed most importance was the item pertaining to relief of anxiety, while the proportion of respondents advocating reduction of the number of carriers and deleterious genes was relatively small. As to the latter two items, one third of respondents ranked them as very important. This was especially marked among liberal arts students, half of whom gave this response. We should carefully consider the prevalence of this view before initiating any GC projects. The decision making process in genetic counseling is a very personal one but some basic guidelines, including bioethical aspects, should be officially established.
There is a widely held belief that the role of the genetic counselor involves persuading individuals and couples to follow certain pre-ordained guidelines. Nearly two thirds of respondents felt that this was not only appropriate but actually an important function of GC. Most respondents ranked items Q4-e, Q4-g and Q4-a as important functions of a genetic counselor. Item d was considered important by 88%. Among preschool staff, medical students and nursing students, more than 60% saw this as very important, while among families, employees and liberal arts students the proportions were less than 50%. We are hopeful that misconceptions in this area will be substantially reduced by education.
The behaviour of a genetic counselor must be evaluated from the standpoint of patient autonomy. Items Q5-a and b deal with behaviour related to respect for client autonomy. More preshool staff ranked item Q5a as important than other groups. When item Q5-e is regarded as very important, there is a potential risk of neglecting patient autonomy. It must be emphasized that the ultimate goal of GC is to provide information and options, never to dictate the reproductive choices of individuals.
More than one third of respondents felt that a tertiary care centre, i.e. a university hospital or specialized care facility, would be the optimal setting for GC. Another 57% indicated that referral to such a centre would be necessary after an initial evaluation at a primary care facility. It is therefore likely that most of the responsibility for providing GC and its related services will be met by such institutions. At present, many medical schools have neither the facilities nor the expertise to meet these needs.
Q7-5:1-3 are items dealing with the general public's perspectives on informed consent. 70% of respondents thought that providing information on maternal and fetal influences, as well as the risk of abortion, was very important. On the other hand, the significance of offering clients all available options after the results are known is difficult to assess because about 15% of respondents did not rank this item for gene analysis, carrier detection and prenatal diagnosis. In all likelihood,this concept was unfamiliar to many respondents because of the long tradition of paternalistic medicine in Japan. Again, we advocate the necessity of education for the general public. First, however, departments of medical genetics should be established in medical schools. This, as emphasized in our earlier report, is the first priority in launching a nationwide GC program.
Another important aspect of implementing such a program is financing. At present the costs,which are sometimes enormous, are carried by research facilities. GC would have to be recognised as a service appropriate for coverage by the national health insurance system. Without some form of reimbursement, costs would be prohibitive for most prospective clients.
In an earlier survey, conducted in 1991, we collected information on the views of physicians involved in muscular dystrophy research (2). Responses were sought to many of the same questions asked in the present survey. In comparing the results of these two surveys, one targeting physicians caring for patients with a chronic progressive disease and the other including mainly persons with no genetics expertise, we found both strong parallels and marked differences. The vast majority of respondents in both survey groups identified relieving the anxiety of patient families, helping clients manage genetic problems and preventing genetic diseases and/or abnormalities as important goals of GC (Table 5 abd). However, fewer physicians (73% vs 83% of the general public) felt that providing support and assistance for couples wanting their own children was a major goal of GC. The responses of physicians and the general public differed even more significantly in regards to reducing carrier numbers (44% vs 64%, respectively, Table 5c) and reducing the frequencies of deleterious genes in the population (38% vs 57%, respectively, Table 5f). Physicians and members of the public were in general agreement on all items pertaining to the roles of a genetic counselor except question 4b (Table 6b), with 98% of physicians but only 84% of the public holding the view that clients should be provided with information which would allow them to make their own assessments. In regards to items pertaining to appropriate demeanour of a genetic counselor in dealing with clients, more than 90% of the respondents in both groups felt that the counselor should assure clients that their decisions would be respected (Table 7b) . Just under one third of each survey group thought it appropriate for the counselor to describe what he/she would do in the same situation (Table 7d) . The opinions of physicians and the public diverged somewhat, however, on the importance of providing practical examples of other peoples' actions in similar situations (54% vs 61%, Table 7c) and actually giving clients advice as to what they should do (53% vs 64%, Table 7c).
The results of these two surveys reveal a subtle, but fundamental, difference in the way GC is perceived by the two groups of respondents. The greater respect for patient autonomy evidenced in the responses of medical specialists dealing with muscular dystrophy reflects the view that GC is a service designed to provide information and reproductive options to individuals and couples. Members of the general public, however, especially those with no medical background, tend to perceive GC as a service to society. Goals such as reducing carrier numbers and preventing genetic diseases were considered, by numerous respondents, to take precedence over client autonomy. Again, the results highlight the urgent need for education as the first step in implementing a nationwide GC service.
1. Osawa M. Genetic counseling from the perspective of a mother and a woman. pp.173-178, in Fujiki N, Macer DRJ (Eds). Human Genome Research and Society (Chrsitchurch: Eubios Ethics Institute 1992).
2. Shirai Y, Osawa M, Fukuyama Y. Ethical considerations in genetic counseling, 138-144pp. in Fujiki N, Macer DRJ (Eds). Human Genome Research and Society (Chrsitchurch: Eubios Ethics Institute 1992).