Current Situation and Issues of Genetic Medicine in …4.2 Operation of genetic counseling 27 4.2.1 Time and fee of genetic counseling27 4.2.2 Other operational situations (outpatient

Current Situation and Issues of Genetic Medicine in Japan

From the Questionnaire Survey on Genetic Medicine

and its Sociocultural Aspects

Akiko IWABUCHI (Otemon Gakuin University, Faculty of Sociology)

Tadashi KUDOH (Osaka University, Graduate School of Human Science)

Motomu SHIMODA (Osaka University, Graduate School of Medicine)

Narifumi NAKAOKA (Osaka University, Graduate School of Letters)

Yumi NISHIMURA (Osaka University, Center for the Study of

Communication-Design

August 2008

Contents

Introduction 4

1. Survey Overview 4

1.1 Population ............................................................................. 4 1.2 Methods . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4

1.3 Retrieval results . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5

1.4 Classification of medical institutions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5

1.5 Previous studies in Japan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5

2. Current Situations and Issues of Genetic Medicine Departments in Japan 6

2.1 Current situations of Genetic Medicine Departments ............ 6 2.1.2 Annual numbers of new departments and reasons of Genetic Medicine Department . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7

2.1.3 Research activities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11 2.2 Personnel of Genetic Medicine Department ......................... 12

2.2.1 Professional staff in GMD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

2.2.2 Staff overview . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

3. Current Situations and Issues of Genetic Testing 17

3.1 Overview ............................................................................. 17 3.2 Number of chromosome tests performed ............................. 17 3.3 Number of DNA/gene tests performed ................................. 19 3.4 Implementation status of genetic tests ................................ 20

4. Current Situation and Issues of Genetic Counseling 21

4.1 Overview of genetic counseling .......................................... 21 4.1.1 Number of genetic counseling sessions in 2005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21

4.1.2 Number of client pairs in 2005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22

4.1.3 Number of counseling sessions per client pair in 2005 . . . . . . . . . . . . . . . . . . . 22 4.1.4 Genetic test-related counseling in 2005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22

4.1.5 Disease areas common in genetic counseling during 2005 . . . . . . . . . . . . . . 24

4.1.6 Changes in the number of counseling sessions over 10 years . . . . . . . . 26

2

4.2 Operation of genetic counseling ......................................... 27 4.2.1 Time and fee of genetic counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27

4.2.2 Other operational situations (outpatient service system, appointment, room space, medical records, etc.) . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29

4.3 Staff participating in genetic counseling and sessions ....... 31 4.4 Psychological support in genetic counseling ...................... 33

5. Current Situation and Issues of Presymptomatic Diagnosis 34

5.1 Implementation status of presymptomatic diagnosis .......... 35 5.2 Important matters in genetic counseling ............................. 35 5.3 Problems occurring in genetic counseling .......................... 36

6. Literature 39

7. References [In Japanese] 39

8. Notes 40

3

Introduction

We have pursued collaborative research projects of genetic medicine (genetic tests and genetic counseling) with researchers studying humanities and social science in Austria

and Germany to seek a better direction of genetic medicine, under the basic concept of

cross-country comparison of sociocultural aspects of presymptomatic diagnosis. However, the amount of basic data available in this field of study is very poor. Although some

organizations individually conducted surveys as referred to below, there are no public

statistics. We conducted a national questionnaire survey on the actual situations of genetic medicine in hospitals across Japan in 2006 (GEN Survey 2006). The purpose of this article

is to describe the entire picture of genetic medicine in Japan based on the data.

1. Survey Overview 1.1 Population GEN Survey 2006 was a complete survey of 92 medical institutions (72 university hospitals,

4 national advanced medical institutes, and 16 other hospitals). These institutions were

members of the National Network of Departments of Genetic Medicine [NMDGM]. Participant lists of the 1st to 3rd meetings were obtained with the facilitator's consent and

used to make a list of target institutions. Addresses were looked up from each facility's

website. The NMDGM selected for our survey population is a nationwide conference established in

2003 on the initiative of Professor Fukushima Yoshimitsu (Shinshu University School of

Medicine), a pioneer of genetic medicine in Japan, and other researchers. The network aims to exchange information and opinions about issues in genetic medicine practice, such

as the positioning of genetic counseling, organization, personnel, fees, and medical

records, and to discuss ideal genetic medicine in Japan (Fukushima, 2007: 17). Since the network is largely comprised of a total of 85 institutions including 80 university

hospitals and 5 national medical institutions which participated in the questionnaire survey

conducted by Fukushima et al. in 2003 (see Sections 1-5) on the establishment of genetic medicine departments [GMD], this survey mainly targeted university-affiliated institutions

which provide genetic medicine in Japan and "other hospitals" were relatively few. 1

1.2 Methods We explained this research project and asked for participation in the 4th NMDGM

conference held at Osaka University on November 18, 2006. Questionnaires were sent by mail on December 4, 2006 with the deadline of January 10, 2007. Reminders were sent on

January 24, 2007. Retrieval was closed on January 31 when sufficient responses were

collected. Later, 2 responses arrived before March 2007 and they were added to fix the

4

response number.

1.3 Retrieval results Thirty-six responses arrived from 36 departments in 35 institutions. Of these, 35 were valid (35 departments in 34 institutions) and 1 was invalid. The number of valid departments

does not correspond to that of the attached institutions because 1 response contained a

set of information about the genetic counseling unit opened in 2006 and about genetic medicine that had been provided at individual service departments until 2005. This was

separated into different data from 2 departments. The 1 invalid case came from an

outpatient department for genetic medicine that was in preparation at the time of the survey and noted that it was impossible to provide practical information. The valid

response rate (the percentage of institutions with valid response among the 92 sites mailed) was 37.0％ (34 responses).

1.4 Classification of medical institutions The present survey population included university hospitals, advanced national medical institutions, and other hospitals. There are no standard classification criteria for medical

institutions. In this report, due to the small number of responses, medical institutions were

divided into either university hospitals or other medical institutions (advanced treatment institutions and other hospitals). Obviously, different universities have different realities.

Some may argue that all of the non-university affiliated hospitals and advanced treatment

institutions should not be bound up in 1 category. Nevertheless, we categorized them into either university hospitals or other medical institutions mainly because no advanced

treatment institutions responded to GEN Survey 2006 and the number of responses from

non-university hospitals was small.

1.5 Previous studies in Japan As described above, there are no public statistics on genetic medicine now in Japan. Thus, previous study data reported by individual researchers are the only way to find a piece of

the entire picture. As a valuable example in this field of study, the Surveillance on Genetic Medicine comes first. The study was conducted in 2003 and 2006 by the study group of Professor Fukushima, the representative facilitator of the NNDGM and associate

researchers. (For convenience, both are collectively called "Fukushima Surveys" in this

article. Surveys in 2003 and 2006 are referred to as "Fukushima Survey 2003" and "Fukushima Survey 2006," respectively.)

In addition to the basic issues in GMD, the Fukushima Surveys collected a lot of

information on many questions not asked in GEN Survey 2006 (consultation systems such as reservations and room space, genetic testing and counseling fees, issues of current

medical practice system, details of presymptomatic diagnosis, etc.) with a high response

rate. In the Fukushima Survey 2003, out of a total of 85 university hospitals and national

5

medical institutes, 76 (89.4%) responded to the mail-in questionnaire. Also in the Fukushima Survey 2006, 86 (69.4%) of 124 university and advanced national hospitals

responded to the questionnaire.

Although the response rate was lower than that of the Fukushima Surveys, questions not asked in Fukushima's were included in GEN Survey 2006; for example, questions about

psychological support, changes in the number of genetic testing and counseling performed

over a year, and diagnosis fields for genetic counseling were included . For drawing the entire picture of genetic medicine in Japan, both surveys are

complementary to each other. By this reason, data from the Fukushima Surveys are

referred to in this article as required. The results of the Fukushima Surveys are available from GENETOPIA, 2 the clinical genetics online network managed by the Division of

Clinical & Molecular Genetics, Shinshu University Hospital.

2. Current Situations and Issues of Genetic Medicine Departments in Japan

This section discusses current situations and issues of GMD introduced in medical institutions in Japan. Firstly, the availability of GMD, annual numbers of new GMD, reasons

for development, and research activities were discussed. Secondly, the working

environment in specialized genetic medicine institutions was investigated by analyzing the occupations and working styles (occupation, working full-time or having double roles, etc.)

of the staff.

2.1 Current situations of Genetic Medicine Departments

2.1.1 Availability of Genetic Medicine Departments How many specialized genetic medicine departments (outpatient departments of general

genetics; ODG) are available in Japan now? The results are summarized in Table 1. 3 In a total of 92 medical institutions surveyed, 63.0％ had ODG. Among these, 44 (61.1%) of 72 university hospitals had ODG, of which 21 (47.7％) responded to this survey. In contrast, of

28 university hospitals (38.9 ％ ) where each service department provides genetic

consultation, 7 (25.5%) returned the questionnaire. The high response rate from hospitals holding ODG suggests that they are more interested in genetic medicine than those

without the department. In other medical institutions, 14 had ODG and 6 provided the

service on an individual department basis, among which only 5 and 2 institutions responded to us, respectively. 4

6

Table 1. Types of hospitals and whether or not general outpatient department of genetic medicine is present

ODG Support in each dept. Total

University hospitals 44 （61.1） 28 （38.9） 72 （100.0）

Of which num. of respond. inst.t. 21 （75.0） 7 （25.0） 28 （100.0）

Other medical 14 （70.0） 6 （30.0） 20 （100.0）

Of which num. of respond. inst. 5 （71.4） 2 （28.6） 7 （100.0）

Total 58 （63.0） 34 （37.0） 92 （100.0）

Total of responding institutions 26 （74.3） 9 （25.7） 35 （100.0）

*Figures without parenthesis show numbers of institutions, while those in parenthesis show percentage.

Based on the results, as of November 2006, there were at least 58 ODG in Japan. Combined with genetic consultation given at other service departments, the availability of genetic medicine services is expanded to 92 departments. In total, 26 ODG (44.8％) and 9

other medical institutions (26.5％), where genetic consultation is provided on a service

department basis, responded to this survey.

2.1.2 Annual numbers of new departments and reasons of Genetic Medicine Department The section discusses changes in the number of newly developed GMD by year. Figure 1

shows the results of GEN Survey 2006 by institutions that started genetic consultation in each service department and those that opened ODG. Among ODG that returned valid

responses, the 2 oldest were developed in the 1970s. However, 3 of 7 developed by the

1990s and 2 of 5 developed in 2006 provide genetic medicine on an individual service department basis. It is therefore unlikely that institutions that established GMD earlier

provide genetic consultation at each service department, while medical institutions in more

recent years tend to open new outpatient GMD or separate the service as a special division.

7

0

2

4

6

8

10

74 75 80 90 93 94 99 00 01 02 03 04 05 06

year

Beginn ing of suppor t in eachdepar tm entEstablishm ent of ODG

The

num

ber

of in

stitu

ions

Figure 1. Establishment year of the department of genetic medicine

(GEN Survey 2006, by supporting department)

Table 2. Biggest Reasons for establishing department of genetic medicine (multiple answers allowed, n=57)

Frequency

Select. perc. among 57 institutions

a Due to necessity of department capable of dealing with genetic information properly 38 66.7

b Affected by Three Ministries Guidelines: Ethics Guidelines for Human Genome/Gene Analysis Research 16 28.1

c Affected by The Ministry of Health, Labor and Welfare Guidelines: Guidelines for Appropriate Handling of Private Information in Medical and Caring Businesses (2004)

1 1.8

d Affected by Ten Genetic Medicine Related Societies: Guidelines for Genetic Testing(2003) 14 24.6

e Others (Model business for genetic counseling） 2 3.5

*Created on the basis of Fukushima Survey 2006 data

Now, we would like to discuss the social backgrounds and reasons for GMD in the

development history. The Fukushima Survey 2006 asked subjects to choose the main reason for opening GMD from 5 answers in Table 2 (see reference [2], p.70). In 57

8

institutions with GMD, the most common reason was "(a) Need a special department to properly manage genetic information." The response implies 2 background factors behind

GMD development; they are an increase in genetic information (even if it is not increasing,

there is at least a certain amount of genetic information handled in the facility) and a growing demand for the proper management of genetic information.

Proper management of genetic information is closely connected with "(b) To comply with

the Three Ministries Guidelines: Ethics Guidelines for Human Genome/Gene Analysis Research (2001)," 5 which follows (a) as the second main reason. The Three Ministries

Guidelines, formulated by the government promoting genetic researches in keeping with

advancements and growing social importance in genetics, intends to protect personal information in human genome and gene analysis studies by controlling research grants

provided by the government. As can be seen in Section 2-1-3, about 60% of the institutions

that reported they had GMD in GEN Survey 2006 are actually working on "genetic tests and case-related research projects" in the relevant departments. For these institutions, the

guidelines were unignorable.

The expert group of genetic medicine was also affected by the issue of the guidelines. This is the "(d) To comply with the Guidelines for Genetic Testing (2003) of the Ten Genetic

Medicine Related Societies." The Guidelines demand a comprehensive, teamwork

approach in clinical genetic medicine, encouraging not only information support from doctors, but also from as many staff as possible including multidisciplinary doctors and

co-medical workers, and stipulate the implementation of genetic counseling prior to

genetic tests (see reference [3]). Probably, developing GMD was the best policy for most medical institutions to work with co-medical workers in a team setting and smoothed the

way for genetic counseling along with the guidelines. 6

However, there seems to be unexplained characteristics in the annual number of new GMD. Figure 2 (next page) shows the annual data from the Fukushima Surveys 2003/2006 and

that of GEN Survey 2006. According to GEN Survey 2006, the number of new GMD was

the highest in 2004 (8, marked with ▲). The Fukushima Survey 2006 also showed the same tendency (14, marked with ■). Why in 2004 were the described backgrounds

observed after 2000?

A political requirement for clinical geneticists 7 underlies the increase. After the first issue of the regulations for the clinical geneticist certification system in 2001, it was revised and

took effect on April 1, 2004 to include requirements of the clinical geneticist as follows:

"clinical geneticists must study clinical genetics for at least 3 years in training centers authorized by the Japanese Board of Medical Genetics and must have experience in

genetic medicine practice and genetic counseling under the supervision of attending

doctors in authorized training centers" (Article 3-1, see reference [4]). The regulations also required training centers to establish specialized outpatient departments for clinical

genetics to receive authorization (Article 14-1, see [4]). It means that medical institutions

planning to train clinical geneticists by themselves had to open the specialized outpatient

9

departments by April 1, 2004. The reason why most GMD established over 2001-2004 were ODG can be explained by this.

0

2

4

6

8

10

12

14

16

Befor e2000

00 01 02 03 04 05 06

year

F ukush im a Sur vey 2003 F ukush im a Sur vey 2006GEN Sur vey 2006

The

num

ber

of in

stitu

ions

est

ablis

hed

Figure 2. Establishment year of the department of genetic medicine (three surveys compared)

In fact, the Fukushima Survey 2006 reported that, among independent GMD in 43

institutions, 68% had already received permanent authorization as a clinical geneticist training center (see reference [2], p.70).

The following conclusions can be drawn regarding the development trends of new GMD.

There is no doubt that an overwhelming tide of growing expectations for the advancement and achievement in human genome studies existed behind the trends. Within this rising

tide, the governmental promotion policy for human genome studies and the regulation

policy of genetic medicine expert groups have worked as key driving forces in the foundation of GMD since the century began. The government urged relevant authorities to

address the protection of personal information through ethics guidelines and this

effectively motivated medical institutions to prepare GMD. Expert groups maintained and controlled the quality of the genetic testing process (including genetic counseling) by

establishing the guidelines and clinical geneticist certification system. As a result, all of

these efforts influenced the timing of the inauguration. For these reasons, GMD will increase steadily, but not rapidly, as it stands now.

10

2.1.3 Research activities GEN Survey 2006 asked if "routine genetic tests and case-related research activities" are

undertaken by each service department (questionnaire B5). Some research activities were

ongoing in 20 (57.1%) but not in 14 (40.0%) of 35 institutions, with no response from 1 facility. On a hospital type basis, 14 (50.0%) of 28 university hospitals conducted research

activities but 13 (46.4%) did not. In other medical institutions, 6 of 7 were engaged in

research and 1 was not. The 20 institutions were asked about the main subjects of their researches and the responses are shown in Table 3.

Table 3. Major research subject Chromosome Establishment of research resources of mental retardation of uncertain cause

Y-chromosome Genetic analysis of genetic disorder and constitution

Epigenetics Fine structure anomaly of chromosome Muscular dystrophy

Infertility Genetic diagnosis of Charcot-Marie-Tooth disease Famil. Amyloid Polyneurop.

Reproduction Gen. anal. of cerebral white matter degeneration Geriatric gerontology

Malformation synd. Analysis of translocation break plane (11:22) Neurology

Rett syndrome CGH method analysis of genomic imbalance Congenital anomaly

Fukuyama desease Antenatal treatment of 21-hydroxylase deficiency Fine struc. anom. of chrom.

Myopathy 21-hydroxylase deficiency Mitochondria disease

I-cell disease Relation with ultrasound diagnosis Congen. metabolic disorder

Individual drug treatm. Transient neonatal diabetes mellitus Krabbe disease

Case studies

*In principle, responses to an open question are listed as in original in random order.

As shown above, many service departments involved in genetic medicine conduct some

research activities. We noticed that the research activity in medical departments may have an influence on the implementation system of genetic tests. Some genetic tests required

for genetic counseling are performed as part of the research activities of university

laboratories. As the research progresses, the laboratory has to withdraw from the genetic testing 8 . This is because, if the genetic test proves to be clinically useful, it falls out of the

category of research subjects. Moreover, it is difficult to produce new achievements by

further research, decreasing the probability of receiving financial support. Medical institutions often encounter such dilemma that as a genetic test becomes more essential

for clinical genetics, the test is performed in fewer institutions (Wakui 2007: 107; see

reference [2], p.48). Furthermore, there is a personnel issue that most graduate students who are responsible for genetic tests often leave the facility after study completion without

passing on technical know-how to anyone else (see reference [2], p.48). Ultimately, these

circumstances of research activities affect the procurement of human resources in both

11

test institutions and testing staff. Another problem is the influence on cost. University laboratories studying genetics usually

pay a part of the genetic testing cost from their own research funds (Wakui 2007). This

current situation immediately leads to the problem of financial resources and cost-sharing when the research budget is tight because the genetic test is removed from the research

subjects with the completion of the study. This may even increase the financial burden of

clients. It is ironic that the expansion of genetic medicine is likely to keep itself away from front-line

researches. This also may aggravate the problem of how to support the genetic testing

system, human resources, and cost. The transfer of genetic medicine from part of the research activities to general practice is an issue.

2.2 Personnel of Genetic Medicine Department

2.2.1 Professional staff in GMD The questionnaires asked about the number of staff per department and occupations to grasp the real state of medical institutions and departments providing genetic medicine.

The specific profession in genetic medicine includes clinical geneticists and certified

genetic counselors. Certified geneticists are authorized by the Japan Society of Human Genetics and the Japanese Society for Genetic Counseling. To receive authorization, the

doctor must be a certified specialist of other medical fields and undertake a training

program in clinical genetics for 3 years or longer under adequate guidance 9 . Clinical geneticists are required to have: (1) a broad expert knowledge of genetic medicine; (2) an

ability to perform specialized tests, make diagnosis, and provide treatment in a specific

area of genetic medicine; (3) an ability to provide genetic counseling; (4) adequate knowledge and experience in genetic testing; and (5) sufficient achievements in genetic

medicine research and be qualified to teach genetic medicine. They are also expected to

solve problems related to inheritance and genes. By 2005, 599 medical doctors were certified as clinical geneticists (Fukushima 2007: 16). The authorization is valid for 5 years

and must be updated upon expiration every time.

Certified genetic counselors are authorized by the Japanese Society for Genetic Counseling and the Japan Society of Human Genetics after completing master's degree

programs at a graduate school specially appointed for genetic counselor training and

passing qualification tests. 10 They are expected not only to provide quality information of clinical genetics in coordination with clinical geneticists, but also to support clients and

protect their rights as an independent profession. The masters’ course for training certified

genetic counselors was established in 2003. The first qualification test was administered in 2005 and 5 new certified genetic counselors were qualified.

12

2.2.2 Staff overview In view of the presence of these professions, we asked about the occupations and

numbers of full-time, part-time, and double-duty workers in GMD. Occupations were

chosen from10 options: clinical geneticists, other medical doctors, nurses, certified genetic counselors, psychological specialists, technical or research staff for genetic tests, clerical

staff, expectant specialists, and others. Analysis was performed for 34 institutions that had

GMD in 2006 when the questionnaires were delivered. The gross number of GMD staff was 388 (see Table 4). Most common occupations were

medical doctors (217; 94 clinical geneticists and 123 other doctors), nurses (46), and

expectant professionals (40). 11 Genetic counseling is a prerequisite of genetic tests and the participation of non-medical professionals in genetic counseling has been desired.

However, the number of certified genetic counselors and psychological specialists in place

were 3 and 15, respectively (both irrespective of employment status). In "Others," specific occupations noted were a teacher of genetic testing and an ethics teacher (each one).

Table 4. Difference of occupational structure and working form

Full time Concurrent Part time Total.

Clinical geneticist 7 （ 7.4） 77 （ 81.9） 10 （10.6） 94

Other doctor 6 （ 4.9） 101 （ 82.1） 16 （13.0） 123

Nurse 0 （ 0.0） 42 （ 91.3） 4 （ 8.7） 46

Certified genetic counselor 1 （33.3） 2 （ 66.7） 0 （ 0.0） 3

Psychological specialist 1 （ 6.7） 8 （ 53.3） 6 （40.0） 15

Technical staff for genetic tests 13 （56.5） 8 （ 34.8） 2 （ 8.7） 23

Research staff for genetic tests 2 （13.3） 12 （ 80.0） 1 （ 6.7） 15

Clerical staff 2 （11.8） 15 （ 88.2） 0 （ 0.0） 17

Personnel preparing to qualify 4 （10.0） 33 （ 82.5） 3 （ 7.5） 40

Others 0 （ 0.0） 12 （100.0） 0 （ 0.0） 12

Total 36 （ 9.3） 310 （ 79.9） 42 （10.8） 388

*The numbers refer to corresponding personnel. Percentage is shown in parentheses.

Double-duty workers (310) occupied the majority overall as well as by occupations,

followed by part-time workers (42) and full-time (36) workers. The most common occupations working part-time were medical professionals (clinical geneticists, other

medical doctors, and nurses) and psychological specialists. For full-time workers, other

occupations (certified genetic counselors, technical and research staff for genetic testing) were most frequent.

The sum, mean, mode, and maximum number of each occupation were summarized in all

13

employees for further analysis on occupations in genetic medicine (Table 5, next page). Taking all occupations together, GMD had 44 employees at the maximum and about 11.4

employees on average. Medical doctors other than clinical geneticists (123), clinical

geneticists (94), and nurses (46) made up the highest numbers in all occupations in descending order. These healthcare professions accounted for 67.8％ of all occupations,

followed by expectant specialists, testing technicians, and clerical workers.

Non-healthcare professionals who had counseling skills were certified genetic counselors (3, 0.8%) and psychological specialists (15, 3.9％) , constituting 4.7% of all employees. 12

It seems that healthcare professionals have a high percentage in genetic medicine. Thus,

what working styles are adopted according to occupations? The section reviews the number of institutions employing workers with these occupations and working styles. Table

6 (next page) shows the number of institutions employing workers with these occupations

according to working styles (full-time, double-duty, or part-time) with percentages. Thirty-two (94.1%) of a total 34 institutions employed clinical geneticists and 5 (14.7%)

institutions paid for them on a full-time basis. Twenty-three institutions (5.9%) employed

medical doctors other than clinical geneticists and 2 institutions paid for them on a full-time basis. Twenty institutions employed nurses, but no one employed full-time nurses. As

indicated above, medical professionals (clinical geneticists, other medical doctors, and

nurses), which occupy a large percentage of occupations in genetic medicine, were mostly double-duty employees.

Certified genetic counselors and psychological specialists which are not healthcare

professions but qualified to give genetic counseling were located in 3 and 12 institutions, respectively, and either one of the occupations was located in 14 of 34 institutions (41.2％). 13 Institutions employing full-time genetic counselors or psychological specialists

were very few (only 1 for each). This suggests that clinical geneticists play a double role of genetic counselors in most of the institutions.

What did the Fukushima Survey 2006 find about occupations and working styles in genetic

medicine, especially for the 2 specialists, clinical geneticists, and certified genetic counselors? The number of institutions employing clinical geneticists was 62 (98.4％) and

those employing certified genetic counselors was 4 (6.3％). Of 63 institutions that hold

GMD, 20 (31.7%) employed staff on a full-time basis. 14

Certified genetic counselors and psychological specialists which are not healthcare

professions but qualified to give genetic counseling were located in 3 and 12 institutions,

respectively, and either one of the occupations was located in 14 of 34 institutions (41.2％). 15 Institutions employing full-time genetic counselors or psychological specialists

were very few (only 1 for each). This suggests that clinical geneticists play a double role of

genetic counselors in most of the institutions.

14

Tabel 5. Number and descriptive statistic of each profession

Instit. Number1) 1) Percent Average Mode Max.value

Clinical Geneticist 34 94 24.2 2.76 1 8

Other Doctor 34 123 31.7 3.62 0 20

Nurse 34 46 11.9 1.35 0 6

Certified genetic counselor counselor 33 3 0.8 0.09 0 1

Psychological specialist 34 15 3.9 0.44 0 2

Technical staff for genetic tests 33 23 5.9 0.70 0 4

Research staff for genetic tests 33 15 3.9 0.45 0 7

Clerical staff 34 17 4.4 0.50 0 3

Personnel preparing to qualify 33 40 10.3 1.21 0 6

Others 34 12 3.1 0.35 0 5

Total 34 388 100.0 11.4 12 44

*1) Total numbers imply full time, concurrent and part time personnel.Answers such as unspecified number or unknown enter under 0.

Table 6. Number of institutions employing each profession (by working form)

Instit. 1)

Full time

Perc. 2) Concr. Perc.

2)Part time

Perc. 2)

Full t. ＋

Concr.

Perc.2)

Clinical Geneticist3) 32 5 14.7 29 85.3 7 20.6 32 94.1

Other Doctor 25 2 5.9 23 67.6 4 11.8 25 73.5

Nurse 21 0 0.0 20 58.8 1 2.9 20 58.8

Certified genetic Counselor 3 1 2.9 3 8.8 0 0.0 4 11.8

Psychological specialist 12 1 2.9 7 20.6 5 14.7 8 23.5

Technical staff for genetic tests 11 6 17.6 5 14.7 2 5.9 11 32.4

Research staff for genetic tests 5 1 2.9 5 14.7 1 2.9 6 17.6

Clerical staff 11 2 5.9 9 26.5 0 0.0 11 32.4

Personnel preparing to qualify 16 2 5.9 15 44.1 1 2.9 17 50.0

Others 7 0 0.0 7 20.6 0 0.0 7 20.6

*1) ‘Instit.’ implies number of institutions employing each profession, in whatever working form. *2) Total number of institutions is 34. *3) Clinical geneticists are employed in 2 institutions both as full time and as concurrent personnel.

What did the Fukushima Survey 2006 find about occupations and working styles in genetic

medicine, especially for the 2 specialists, clinical geneticists, and certified genetic

15

counselors? The number of institutions employing clinical geneticists was 62 (98.4％) and those employing certified genetic counselors was 4 (6.3％). Of 63 institutions that hold

GMD, 20 (31.7%) employed staff on a full-time basis. 16

Next, the scale of genetic medicine institutions and the influence on working styles were reviewed. Table 7 summarizes facility scales (staff numbers) by the total number of

institutions, the total staff (sums in all institutions of the same scale), and working styles.

Ten institutions were operated by 11-15 staff members, accounting for the majority in all. Seven were operated by five or fewer genetic medicine staff. The maximum number of staff

was 44 and the second highest was 25, with a minimum number of 0. 17 The total number of full-time workers was 36, of which 21 (58.3％) belonged to the institutions with a staff

size of 11-15. On the contrary, no full-time workers were employed in the institutions with a

staff size of 16-20. This means that larger institutions do not always hold a lot of full-time

staff. If staff size is too small or no full-time workers are employed, individual responsibilities would be heavy in GMD, though it depends on the size of GMD, the

number of acceptable clients, and management policy.

Based on the analysis above, it is concluded that a large number of genetic medicine staff are dealing with GMD in concurrence with duties in other service departments. Most

institutions employ clinical geneticists but few certified genetic counselors, because the

system of certified genetic counselors is relatively new. With these circumstances, clinical geneticists play a core role in both genetic medicine practice and counseling. Even with

clinical geneticists, many of them have to work for other departments and it is easily

conceivable that their responsibility is increasing. 18

Table 7. Working form by number of staff Breakdown of total num.

Number of staff（size） Instit. Total num.1)

Full time Concur. Part time Average staff

by size2)

0 ～ 5 7 12 0 10 2 1.71

6 ～ 10 9 72 7 64 1 8.00

11 ～ 15 10 122 21 88 13 12.20

16 ～ 20 4 71 0 59 12 17.75

20 ～ 4 111 8 89 14 27.75

Total 34 388 36 310 42 11.41 *1) Total number implies the whole sum of staff (full time, concurrent, part time) of institutions

corresponding each size. *2) Obtained by dividing total number by number of institutions

16

3. Current Situations and Issues of Genetic Testing

3.1 Overview This section, on the basis of the results of GEN Survey 2006, attempts to reveal the reality of genetic testing in Japan. A genetic test obtains its results by analyzing and quantifying

chromosomes carrying human genetic information, DNA, RNA, proteins (peptides), and

metabolites using different analysis methods and interpretations in accordance with the illnesses to be diagnosed (Wakui 007: 98-99). A variety of test methods is selected for

diagnosis of a particular disease. For example, the chromosome test is a kind of screening

test which can detect all chromosomal aberrations through karyotype analysis; the genetic test basically uses information of genes responsible for each disease, and specific test

methods should be established for the disease analyzed (Wakui 2007: 107).

In the present survey, for the purpose of knowing more about genetic tests actually performed in the institutions and departments involved in genetic medicine, we requested

answers to the question asking "How many times did your department perform genetic

tests (chromosome test and DNA/genetic test) in the following area of diagnosis from January to December 2005?" (Questionnaire B4). 19 Respondents could write the number

of tests performed for the following 8 diagnostic areas by chromosome test and

DNA/genetic test for each: clinical diagnosis (confirmation of diagnosis), prenatal test (all fetal tests), genetic carrier test (for autosomal recessive inherited disorder, X-linked

recessive hereditary disease, or chromosomal translocation carriers), presymptomatic test

for monogenetic disease (nervous system and muscle diseases or familial tumors), disease sensitivity test (hypertension, diabetes, allergy, etc.), drug sensitivity test,

paternity test, and others.

3.2 Number of chromosome tests performed Chromosome tests performed from January to December 2005 are discussed below. 20

The cumulative number was 1,390 (maximum: 377; minimum: 0) with a mean of 42.1 (standard deviation [SD] 89.4). 21 The purpose of the chromosome tests is analyzed in

Figure 3. Prenatal test (47.5%) is the most frequent reason and clinical diagnosis test

(41.6%) is the second most frequent. These disease areas, accounting for nearly 90% of the total number, are disproportionately represented in chromosome tests. The gene

carrier test (6.5%) and presymptomatic test for monogenetic diseases (4.5%) follows next.

No tests were preformed on other areas. Only 62 presymptomatic tests could be identified as presymptomatic diagnosis of monogenic disease. However, tests applicable to

presymptomatic diagnosis may also be counted in clinical diagnosis tests. The actual

number of presymptomatic tests would therefore be more than 62. We next discuss how many medical institutions undertake chromosome tests (Table 8).

Chromosome tests were undertaken in 22 of 33 institutions. Analysis into chromosome

tests performed during 2005 revealed that the prenatal test was the most frequent disease

17

area, and 14 institutions undertook the prenatal test. Two institutions performed the prenatal test more than 100 times a year. The large difference between the maximum value

and the minimum value shows a markedly high dominance by specific medical institutions

in this disease area. The same tendency is observed for the clinical diagnosis test. The clinical diagnosis test was performed in 16 institutions and 1 facility performed more than

300 tests a year.

Only 1 facility performed 62 chromosome tests for presymptomatic diagnosis of monogenic disease. It can be concluded that specific medical institutions tend to use the chromosome

test frequently for specific disease areas.

888

310

578

699

39

660

118

28

90

71

62

185

9

3

3

185

0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100%

Total

DN A/gene

Chr om osom e

Tests for clin ical diagnosis P r enatal testGene-car r ier test P r esym ptom at ic tests of m onogenet ic diseasesDisease sensit ivity test Dr ug sensit ivity test

Figure 3 Ratio of genetic tests (chromosome, DNA/gene, total number）

by diagnosis domain *Figures in the graphs imply number of tests in each diagnosis domain.

18

Table 8. Number of institutions implementing chromosome tests by diagnosis domain with total number, maximum, minimum and average

Chromosome tests and diagnosis domains

1)Instit.

Imple- menting

instit.

Total number

Max.

2) Min.

Average

Chromosome tests 33 22 1390 377 1 42.1

Tests for clinical diagnosis 33 16 578 350 1 17.5

Prenatal test 32 14 660 224 2 20.6

Gene-carrier test 33 9 90 30 1 2.7

Presymptmatic test of monogenic

disease 33 1 62 62 62 1.9

Disease sensitivity test 31 0 ― ― ― ―

Drug sensitivity test 31 0 ― ― ― ―

Paternity test 30 0 ― ― ― ―

Other test 32 0 ― ― ― ―

*1) Number of institutions implies valid responses by each diagnosis domain. *2) Minimum implies that under the implementing institutions. Valid responses (institutions) added together makes 0. 3.3 Number of DNA/gene tests performed The number of DNA/gene tests performed during 2005 were examined. The cumulative number was 574 (maximum, 188; minimum, 1) with a mean of 30.2 (SD, 38.8). Unlike the

chromosome test, the clinical diagnosis test (310, 54.0%) and drug sensitivity test (185,

32.2%) were the most frequent and accounted for about 85% of the total (see Figure 3), followed by the prenatal test (6.8%), gene carrier test (4.9%), presymptomatic test for

monogenic disease (1.6%), and disease sensitivity test (0.1%). 22 Paternity test and other

tests were not performed. We next discuss how many medical institutions undertake DNA/gene test (Table 9).

DNA/gene tests were undertaken in 19 of all 33 institutions. Fourteen institutions

undertook the DNA/gene test for clinical diagnosis, which area was also the most frequent in the number of tests performed per disease area. One facility performed more than 100

tests a year. The drug sensitivity test, the second most frequent area, was performed in

only 1 facility. Similarly, it can be concluded that specific medical institutions tend to use DNA/gene test frequently.

19

Table 9. Number of institutions implementing DNA/gene tests by diagnosis domain with total number, maximum, minimum and average

DNA/gene tests and diagnosis domains

1)Instit.

Imple- menting

instit.

Total number

Maxim.

2) Minim.

Average

DNA/gene tests 33 19 574 188 1 17.4


Prenatal test 32 8 39 22 1 1.2


Presymptmamatic test of

monogenic disease 32 5 9 2 1 0.3

Disease sensitivity test 30 1 3 3 3 0.1

Drug sensitivity test 30 1 185 185 185 6.2


Other test 32 0 ― ― ― ―

*1) Number of institutions implies valid responses by each diagnosis domain. *2) Minimum implies that under the implementing institutions. Valid responses (institutions) added

together makes 0.

3.4 Implementation status of genetic tests We discussed the number of chromosome and DNA/gene tests performed above. The section briefly describes the implementation status of all chromosome tests and DNA/gene

tests combined as genetic tests. The cumulative number of genetic tests performed during

2005 was 1,964 (maximum, 432; minimum, 2) with a mean of 72.7 (101.4). Genetic tests were used most frequently for clinical diagnosis test (45.2%), prenatal test (35.6%), drug

sensitivity test (9.4%), gene carrier test (6.0%), presymptomatic test for monogenic

disease (3.6%), and disease sensitivity test (0.2%), in descending order. Implementation of the paternity test was not confirmed in this survey (Figure 3). As mentioned for the

number of chromosome and DNA/gene tests performed, some diagnosis areas exhibit a

large difference between the maximum and minimum values. It is noticeable that specific medical institutions are inclined to certain diagnostic areas (see Table 10).

20

Table 10. Number of institutions implementing genetic tests by diagnosis domain with total number, maximum, minimum and average

Genetic tests and diagnosis domains

1)Instit.

Imple- menting

instit.

Total number

Maxim.

2) Minim.

Average

Genetic tests 33 27 1964 432 2 59.5


Prenatal test 32 19 699 224 1 21.8


Presymptmatic test of monogeic

disease 33 6 71 62 1 2.2

Disease sensitivity test 31 1 3 3 3 0.1

Drug sensitivity test 31 1 185 185 185 6.0


Other test 32 0 ― ― ― ―

*1）Number of institutions implies valid responses by each diagnosis domain. *2）Minimum implies that under the implementing institutes. Valid responses (institutions) added together

makes 0.

4. Current Situation and Issues of Genetic Counseling

4.1 Overview of genetic counseling The number of genetic counseling sessions was tabulated and analyzed based on 30

responses. Five were excluded from analysis; 4 were not applicable (No counseling was

carried out during 2005 because GMD started in 2006) and 1 gave no answer.

4.1.1 Number of genetic counseling sessions in 2005 Based on Questionnaire C9, the number of counseling sessions performed during 2005 23 were calculated. The cumulative number was 1,889 (maximum, 450; minimum, 3) with a

mean of 63.0 (SD, 103.5). Two institutions performed more than 300 counseling sessions

in total. When these values are considered outliers, the cumulative number amounts to 1,132 (maximum, 191; minimum, 3) and the mean is 40.4 (SD, 48.8).

Medical institutions that provided genetic counseling during 2005 all conducted 2 or more

sessions. However, the top 5 institutions with higher counseling numbers dominated with 62.6% (1,183) of all counseling sessions, and the differences between the maximum and

minimum values were wide too. The results show that most genetic counseling is

concentrated in specific medical institutions at this time. This disproportion is extreme.

21

4.1.2 Number of client pairs in 2005 Based on Questionnaire C10, the number of client pairs visited during 2005 was calculated.

We counted clients in units of "pairs" even if the client visited alone, assuming that the

client may visit hospital with a partner. Respondents were asked to count a client pair only once when the same pair visited hospital several times. The cumulative number of client

pairs was 1,338 (maximum, 280; minimum, 3) with a mean of 44.6 (SD, 1,068.5). One

facility accepted more than 200 pairs. If this top facility is considered an outlier, the cumulative number of visiting pairs amounts to 1,058 (maximum, 191; minimum, 3) and the

mean is 36.5 (SD, 51.0).

Medical institutions that provided genetic counseling at least once during 2005 all dealt with multiple client pairs. However, as expected, an oligopolistic tendency was observed.

The top 5 institutions that had higher client numbers dominated with 63.2% (846) of all

client pairs. Indeed, there is a difference of nearly 100 pairs between the first and the second-place institutions in the numbers of visiting pairs.

4.1.3 Number of counseling sessions per client pair in 2005 Based on Questionnaires C9 and C10, the cumulative number of counseling sessions in 1

facility was divided by the number of visited client pairs for calculating the mean number of

counseling sessions per pair. The mean number of counseling sessions per pair was less than once in 1; more than once

but less than twice in 25; more than twice but less than 3 times in 3; and more than 3 times

in 1. More than 80% of the institutions providing counseling had more than 1 but less than 2 sessions per client pair (mean, 1.40; SD, 0.514). These findings suggest that many client

pairs do not visit hospital for counseling more than once. 24

4.1.4 Genetic test-related counseling in 2005 Respondents were requested to answer the following question on genetic counseling and

related tests (questionnaire C12): "How many times did your department perform genetic counseling related to the following genetic tests from January to December 2005? Please

specify the number (cumulative) including those not resulting in the tests." As is the case

with the questions about the number of genetic tests performed, respondents could choose from 8 items: clinical diagnosis test, prenatal test, gene carrier test, presymptomatic test

for monogenic diseases, disease sensitivity test, drug sensitivity test, paternity test, and

others. Figure 4 shows the reasons for genetic counseling performed during 2005. Apparently,

genetic counseling has been provided for some exclusive areas. Genetic counseling was

performed most frequently for prenatal test, accounting for almost half of all counseling sessions. Clinical diagnosis test followed next, making up about one-forth of all counseling

sessions. Genetic counseling that was definitely intended for presymptomatic diagnosis

accounted for only 6.9%; all of which pertained to presymptomatic test for monogenic

22

disease. However, it is probable that genetic counseling related to presymptomatic diagnosis overlaps with those for clinical diagnosis test because the diagnosis area made

up a relatively high percentage. If so, the actual percentage would be higher. 25 Testing

areas noted as "others" included structural Y-chromosome anomalies, myoclonic epilepsy, schizophrenia, follow-up for Turner's syndrome, intermarriage, abnormalities of a marriage

partner's relative, infertility problem, explanation for genetic disease, and disease of

unknown cause.

Test s for clinicaldiagnosis, 25.7%(438)

Gene-car r ier t est ,13.7% (233)

Other t est ,4.9% (83)

Pater nity t est ,0.4%(6)

Pr esymptmat ic t estof monogenicdisease, 6.9% (117)

Disease sensit ivit yt est , 0.3% (5)

Pr enat al t est ,48.2% (822)

Figure 4. Total number and ratio of genetic counseling sessions by test (2005) *Counseling session related to drug sensitivity test was 0 (0%).

Table 11. Total number, maximum, minimum and average of genetic counselings as well as number of implementing institutions by test domain (2005)

Test domain of genet. counselings Implementing instit.1)

Total number Maxim. Minim. Average

Tests for clinical diagnosis 21 438 141 2 20.86

Prenatal test 22 822 300 1 37.36

Gene-carrier test 22 233 38 1 10.59

Presymptmatic test of monogenic disease 13 117 39 1 9.00

Disease sensitivity test 3 5 2 1 1.67

Drug sensitivity test 0 0 －－－

Paternity test 2 6 5 1 3.00

Other test 7 83 41 1 11.86*1） ‘Implementing instit.’ implies institutions having implemented genetic counselings in corresponding

domain among 30 except 4 irrelevant cases (established in 2006) and 1 no response case.

23

The cumulative number of genetic counseling sessions performed, the total number of

counseling institutions, and other details are summarized in Table 11 by intended test areas. As can be seen from the comparison of cumulative numbers and maximum values,

among genetic counseling sessions provided for clinical diagnosis and for prenatal test,

32.3% (141) and 36.5% (300) occurred in 1 medical facility, respectively. Likewise the results observed in the analysis of counseling frequency and client pair numbers, genetic

counseling seems to be provided by a limited number of medical institutions for limited

testing areas.

4.1.5 Disease areas common in genetic counseling during 2005 Questionnaire C13 asked about disease areas commonly consulted in genetic counseling during 2005. The question was "What disease areas did you encounter most often in

genetic counseling from January to December 2005? Please choose 5 from the following

[list of disease areas] and specify the total number (cumulative) of counseling sessions." Respondents were asked to rank the first to fifth areas in descending order. Seventeen

disease areas were included as shown in the left side [?] of Table 12. 26

Ranking is examined first. Table 12 summarizes the number of medical institutions that chose each disease area by rank. 27 The shaded numbers indicate the highest number of

choices within the same rank. The total rank column shows 1 to 5 ranks determined by

total facility numbers that chose the area. The most common disease areas consulted in genetic counseling were chromosome anomaly and pregnancy. Chromosome anomaly

also gained the highest number of votes within 1-3 ranks. In addition, the disease area was

chosen by medical institutions of the highest number (26 sites), corresponding to the high frequency of prenatal test-related counseling shown in Figure 4. In terms of total number

chosen, nerves/muscles/mentality ranked in the second place (21 sites), followed by

pregnancy (14) in the third, metabolism (11) in the fourth, and familial tumor (9) in the fifth place. Of the 17 disease areas, no one was left untouched in genetic counseling. As

expected, pregnancy was the most common disease area in genetic counseling.

Apart from ranking, the number of performed counseling was analyzed by disease areas (Table 13). The total in Questionnaire C13 was 1,657, which is smaller than the total

number investigated by other questions because it is the sum up to the fifth rank. When

considering the ratio to the total number, the most frequent disease area was pregnancy at 38.0%. Nerves, muscles, and mentality came next at 23.3% and the third chromosome

anomaly at 21.1%. The combined percentage of these 3 disease areas exceeded 80%.

Metabolism and familial tumor ranked relatively higher in the order of choice, but the composition ratios were not necessarily high. The disease areas that most frequently

required counseling were chromosome anomaly, addressed by 26 institutions. Genetic

counseling for nerves, muscles, and mentality area was undertaken in 21 institutions and pregnancy in 14. This overlaps with disease areas of high component ratio.

24

From the total aspects of rank, number of counseling sessions performed, and number of counseling institutions, genetic counseling in Japan is concentrated in the 3 disease areas

of pregnancy, chromosome anomaly, and nerves, muscles, mentality.

Table 12. Five most frequent disease areas of genetic counseling (2005) rank

area 1 2 3 4 5 Total number

Total rank

1 Nerve, muscle, mentality 7 6 3 4 1 21 ②

2 Ophthalmology and otorhinolaryngology

0 0 1 0 2 3

3 Head and face 0 0 1 0 0 1

4 Digestive and respiratory organs 0 1 0 0 2 3

5 Circulatory organs 0 0 1 1 0 2

6 Kidney, urinary tract and genitalia

0 0 1 0 1 2

7 Bone and connective tissue

0 0 1 2 1 4

8 Skin 1 1 0 1 2 5

9 Metabolism 1 2 4 3 1 11 ④

10 Adult disease 0 0 1 0 0 1

11 Endocrine 1 2 1 2 1 7

12 Blood, coagulation and immunity deficiency

1 0 0 1 2 4

13 Malformation syndrome 2 2 2 0 0 6

14 Chromosomal anomaly 8 9 5 3 1 26 ①

15 Pregnancy 8 3 0 2 1 14 ③

16 Familial tumor 2 2 1 1 3 9 ⑤

17 Other 0 0 0 0 1 1

Total 31 28 22 20 19 120

25

Table 13. Total number of genetic counseling sessions by disease area Imple-

menting instit.

Valid respon-

se Disease area

Num.

Minim.

Maxim. 1）

Average Stand.

div. 2）

％

Nerve, muscle, mentality 21 20 384 1 230 19.2 50.4 23.2

Ophthalmology and otorhinolaryngology

3 3 12 1 10 4.0 5.2 0.7

Head and face 1 1 2 2 2 2.0 ― 0.1

Digestive and respiratory organs 3 3 4 1 2 1.3 0.6 0.2

Circulatory organs 2 2 3 1 2 1.5 0.7 0.2

Kidney, urinary tract and genitalia

2 1 1 1 1 1.0 ― 0.1

Bone and connective tissue

4 4 9 1 4 2.3 1.3 0.5

Skin 5 5 25 1 12 5.0 4.5 1.5

Metabolism 11 11 47 1 11 4.3 3.0 2.8

Adult disease 1 1 2 2 2 2.0 ― 0.1

Endocrine 7 7 21 1 6 3.0 2.0 1.3

Blood, coagulation and immunity deficiency

4 4 25 1 11 6.3 4.3 1.5

Malformation syndrome 6 6 81 2 50 13.5 18.2 4.9

Chromosomal anomaly 26 26 349 1 84 13.4 17.6 21.1

Pregnancy 14 14 629 1 300 44.9 83.6 38.0

Familial tumor 9 8 62 1 32 7.8 10.4 3.7

Other 1 1 1 1 1 1.0 ― 0.1

*1） ‘Average’ is obtained by dividing ‘Number’ by ‘Valid response’. *2）‘％ ’ implies ratio of number of counseling sessions in each area divided by total number of counseling

sessions (1657).

4.1.6 Changes in the number of counseling sessions over 10 years Questionnaire D20 asked the cumulative number of genetic counseling and genetic tests

(including outsourced tests) conducted over 10 years from 1996 to 2005 (January to December every year).

This section considers changes in the cumulative number of genetic counseling. 28

26

0

200

400

600

800

1000

1200

1400

1600

1800

96 97 98 99 00 01 02 03 04 05

Year

0

5

10

15

20

25

30

Num ber of genet ic counseling sessionsNum ber of im plem ent ing inst itu t ions

Num

ber

of im

plem

entin

g in

stitu

tions

Num

ber

of g

enet

ic c

ouns

elin

g se

ssio

ns

Figure 5. Number of genetic counseling sessions and implementing institutions (1996-2005)

Figure 5 shows the cumulative number of genetic counseling sessions performed each

year (marked with ●) and the annual number of medical institutions that answered that they performed genetic counseling during the year (marked with ▲). Both the counseling

numbers and facility numbers remained unchanged from 1996 until 2000, but suddenly

increased from 2001. As described in Section 2-1-2, the year 2001 saw a rapid increase of GMD with the issue of the Three Ministries Guidelines as well as regulations for the

certified clinical geneticist system. It is likely that the actual number of counseling sessions

and institutions increased as these policies endorsed genetic medicine and genetic counseling.

4.2 Operation of genetic counseling The next section examines the operation of genetic counseling. Thirty-one responses were

used for tabulation and analysis, excluding 4 that were inapplicable (no counseling was

done during 2005 because GMD started in 2006).

4.2.1 Time and fee of genetic counseling Time required for genetic counseling was inquired in Questionnaire C11. Session time distributed as follows: less than 1 hour in 5; more than 1 but less than 1.5 hours in 22;

more than 1.5 but less than 2 hours in 3; and more than 2 hours in 1. The shortest

counseling session took 20 minutes and the longest took 120 minutes. Most institutions

27

took just 1 hour (20 sites). The average time was 62.3 minutes (SD 17.69). Time required providing genetic counseling is closely related to counseling fee setting.

Information on medical fees was not available in GEN Survey 2006. According to the

Fukushima Survey 2006, of 86 institutions responding, 11 charged only a basic medical fee at initial and repeat visits as health insurance treatment, and 48 charged a genetic

counseling fee on a private expense basis. Twenty-five of the latter institutions charged a

fixed rate for each counseling session and the remaining 23 institutions used a time charge system, most of which chose a per-hour fee. These circumstances likely explain why 60

minutes are required in many institutions.

We summed up the results of the Fukushima Survey 2006 regarding the genetic counseling fee. According to the published data, the average fee for 1 counseling session

was about 8,200 yen (SD 10981.20) in 25 institutions that asked for private expense on a

fixed rate. The lowest was 2,600 yen and the highest was 62,000 yen (because some handled it as advanced medicine). Excluding handling as advanced medical care, the

average was about 6,100 yen (SD 2272.20) and the highest was 10,500 yen. However, the

counseling fee was generally subdivided and varied according to counseling time, complexity of the case, and the presence or absence of a referral letter and/or a medical

record. Some institutions had a fee system that charges a lower fee after the second visit.

For 23 institutions that asked for private expense by the hour, the average counseling fee (per hour) was about 6,600 yen (SD 3998.71) with the lowest at 2,800 yen and the

highest at 21,000 yen. Likewise, the counseling fee was considered on a case-by-case

basis depending, for example, on inpatient or outpatient status. Additional charge units for extra counseling time were also different, ranging from 30 minutes to 1 hour or over.

Similarly for fixed-rate cases, some institutions set a lower unit price per hour after the

second visit. In summary, whether they prefer a fixed- or hourly-rate system, most medical institutions

that request private medical expenses for genetic counseling set the initial counseling fee

at 5,000 to 7,000 yen or 6,000 yen on average. Some made efforts to reduce the client's burden by applying insurance coverage to either the initial visit or repeat visits, changing

fee setting after second or third visits, and covering follow-up counseling fee by health

insurance, etc. In contrast, others do nothing and the disparity among institutions is large. For example, if you receive counseling for 2 hours at the initial visit and for 1 hour at the

second visit in a private clinic, you have to pay 20,000 yen at first and 10,000 yen next,

30,000 yen in total. However, in a national hospital, you only have to pay 6,300 yen first and 3,150 yen next for the same counseling, 9,450 yen in total. 29 A simple comparison

indicates a 3-fold difference. Although each facility's effort for burden reduction certainly

benefits clients, it can result in making a complicated fee system at the same time, causing other problems.

Medical institutions involved in genetic medicine and genetic counseling are very

concerned about this situation. In the 4th annual meeting of NMDGM in 2006, a

28

subcommittee investigated the cost burden including medical fee, genetic counseling fee, and genetic testing fee. In this subcommittee, 2 aspects of genetic counseling fee were

emphasized. One was the reduction of clients' burden; a discussion took place regarding

the need to take measures to reduce the burden of clients with a disability certificate or special clients with serious disease. Another was hospital management; at this time

genetic medicine is scarcely profitable and some members pointed out that it is difficult to

continue genetic counseling just relying on the social importance and responsibility under visible and invisible pressure against GMD. The committee concluded that the first step

toward an integrated solution of these 2 aspects would be to take genetic medicine into

health insurance treatment for settling genetic counseling as a general medical service.

4.2.2 Other operational situations (outpatient service system, appointment, room space, medical records, etc.) GEN Survey 2006 did not collect information about the operational situation of genetic

medicine and genetic counseling (service days for outpatients, necessity of appointments,

person in charge, content of medical interviews, consultation space or other structural or systematic features, and management of medical records and information), but the

Fukushima Survey 2006 investigated and summarized such information. The section

describes the results. The frequency of genetic counseling service provided at outpatient departments was

analyzed. About 40% reported that they had genetic counseling once a week, which was

the highest percentage. Next came twice a week at 18% and a few days a month at 16%. Sixteen percent provided genetic counseling 3 days or more per week in total, occupying

not so high a percentage. About 10% provided genetic counseling less than 1 day per

month in total. Sixty-one of 62 institutions adopted an appointment system for genetic counseling.

Appointment staff included hospital office workers (18%), private nurses (20%), and

private physicians (36%), indicating the relatively major role of physicians in this setting. As discussed in Section 2, most physicians in GMD have responsibilities in other service

departments and possibly shoulder a considerable burden. Some university hospitals

trained graduate students and had them take appointment phone calls. Most institutions (27) answered that they asked clients at appointment the date and time of

scheduled visit, contact address, family information, disease name, and purpose/intention.

Of the 5 items, the purpose/intention of visit was most commonly asked (92%) rather than the date and time of scheduled visit (89%) and contact address (86%). This shows that

ascertaining the client's intention is the most significant concern for medical institutions. At

appointment, disease name was asked by 69% and familial information was asked by 48% of the institutions, suggesting that these were relatively less important information at the

time of appointment. 30

A genetic counseling room (consultation room or interview room, etc.) was prepared in 41

29

of 63 institutions (65.1%) for exclusive use. Considering that 19 institutions (52.8%) had a dedicated room for GMD in Fukushima Survey 2003, infrastructure has improved over the

last few years. With or without a dedicated room, 43 institutions (68.3%) exercised their

ingenuity for the counseling room more than for those of other service departments. This includes strengthening the protection of privacy (complete isolation from other spaces and

the installation of a dedicated computer, printer, phone, and waiting room) and creating

relaxing environment (use BGM and aroma pots, unify the interior in a warm color, make the space bright, and prepare a separate booth).

Regarding the management of medical records and client information, genetic counseling

records were not electronically stored in most cases. A majority of institutions made original medical records (49 sites) and stored them in a special place (49) or in a locked

room (52). A few institutions used electronic medical records. To avoid information leakage,

a combined use of paper files, restriction of accessible members, setting a password, or other measures were taken in these institutions.

Taking these findings together, genetic counseling is generally provided for outpatients

once weekly by appointment now. Due to the nature of genetic medicine, medical institutions are likely to give consideration and make various efforts to improve counseling

space and the protection of private information. These improvement activities are, however,

left to each facility under the present condition and there is no standard system. The 4th annual meeting of NMDGM in 2006 worked on these systematic issues in genetic medicine

(acceptance of appointments, medical records, follow-up, etc.) in groups, and the

members exchanged information and discussed issues related to each improvement plan. The meeting report indicates that the following were commonly observed in all institutions:

(1) Persons taking appointments have different occupations, but they receive training beforehand. Questions are already defined to some extent.

(2) Papers are used to keep medical records in principle. Stand-alone computers are

used to file records in some institutions. (3) Some omitted to note medical care history and disease names on a common hospital

record. Others noted at least the primary name of the illness in case of consultation to

other service departments. Some also obtained consent from the client before making a description.

In particular, the third point, protection of privacy and coordination with other service departments and institutions would be a major problem as genetic medicine and genetic

counseling become widely available in the future.

30

4.3 Staff participating in genetic counseling and sessions We analyzed the composition of staff participating in genetic counseling in 34 institutions

that supplied personnel in GMD at the time of the Survey, even if the GMD started in 2006

and there was no counseling performed. Questionnaire C7 listed 10 occupations (clinical geneticists, medical doctors other than the

above, nurses, certified genetic counselors, psychological specialists, technical and

research staff for genetic testing, clerical staff, expectant specialists, and others) and asked the number of each occupational staff by full-time and double-duty workers as

follows: “Please specify the usual number of staff participating in genetic counseling

(including observers) in your department.” Table 14 (next page) illustrates the cumulative number of staff by occupation and the

percentage by full-time or double-duty workers with descriptive statistics. The number of

clinical geneticists (69) was the highest in all participants of genetic counseling and accounted for 30%. The combined number of clinical geneticists and other medical doctors,

the second highest, constituted 59.3% of all counseling staff present, reaching almost 60%.

Nurses came next. In terms of profession with counseling skills, certified genetic counselors and psychological specialists were only 15 in total. The percentage was 7.1%,

which is even less than 10%.

However, if the number of the staff is analyzed by the working styles, we can recognize that most of them are double-duty workers. Among 209 participants in all, full-time workers

were only 22 (10.5%). Both the number and percentage of clinical geneticists are the

highest, but the percentage of full-time clinical geneticists is only 13.0%. Other medical doctors account for 7.3%, which is even less than 10%. The number of nurses and

psychological specialists employed full-time is only 1 for each all throughout 34 institutions.

In fact, the percentage of full-time workers in each facility was 0% in 73.5% (25 sites) of the institutions.

The Fukushima Survey 2006 suggests that the major problems in operating genetic

counseling included that the lack of full-time staff resulted in communication problems and increased responsibilities of the staff (reference [2]).

The manpower problem in genetic counseling operation is not only caused by the lack of

full-time workers, but also by staff bias. The descriptive statistics in Table 14 show the average, modes, and maximum values of staff numbers by occupation. The average

number of staff was about 6 when including full-time and double-duty workers in all

institutions, but the mode was 3 and the maximum was 28. This suggests that a few institutions with many employers have just raised the average and a lack of manpower is

still overwhelming. In fact, there were only 9 (26.5%) institutions employing more than the

average number of staff, 6. On the contrary, those employing less than or equal to the mode, 3, reached 16 (47.1%). At least 1 clinical geneticist or other medical doctor was

placed in average at every GMD. Table 15 also indicates that only clinical geneticists are

employed in all institutions. The number of other medical doctors was the second highest

31

after clinical geneticists, but they are employed in only a half of the institutions and imbalanced distribution is suggested.

Table 14. Total number of each profession taking part in genetic counseling and descriptive statistic

Breakdown

Full time +

Concur. % Average Mode Maxim.

Full Concur.

% of full

time

Clinical geneticist 69 33.0 2.03 1 8 9 60 13.0

Other doctor 55 26.3 1.62 0 10 4 51 7.3

Nurse 32 15.3 0.94 0 5 1 31 3.1Certified genetic

counselor 3 1.4 0.09 0 1 1 2 33.3

Psychological specialist 12 5.7 0.35 0 2 1 11 8.3

Technical staff for genetic tests 8 3.8 0.24 0 2 5 3 62.5

Research staff for genetic tests 6 2.9 0.18 0 3 0 6 0.0

Clerical staff 7 3.3 0.21 0 3 1 6 14.3

Personnel preparing to qualify 17 8.1 0.50 0 6 0 17 0.0

Total 209 1000 6.15 3 28 22 187 10.5

Table 15. Ratio of institutions employing each profession (in whatever work form) (%)

Employm. of full time

Employm. of concur. Employm. of either full

time or concur.

Clinical geneticist 20.6 85.3 100.0

Other doctor 5.9 44.1 50.0

Nurse 2.9 52.9 55.9

Certified genetic counselor 2.9 5.9 8.8

Psychological specialist 2.9 29.4 32.4

Technical staff for genetic tests 8.8 5.9 14.7

Research staff for genetic tests 0.0 8.8 8.8

Clerical staff 2.9 11.8 14.7

Personnel preparing to qualify 0.0 23.5 23.5

Conclusions on human resources of genetic counseling in Japan are presented below. In

most cases, the size of GMD is small and managed by 1 clinical geneticist and a few other

medical doctors and nurses. With this staff organization, it is conceivable that the responsibilities of the “requisite minimum” clinical geneticist is heavy over all aspects of

32

department management, consultation, and counseling. There are a few institutions of relatively large scale that hold more than 10 people in GMD, but the work force is not

necessarily sufficient because the facility scale is not proportional to the percentage of

full-time staff. Such GMD appears large primarily due to the high number of double-duty doctors. Some genetic counseling departments may be large and work with doctors from

other service units, but have to routinely manage with few staff; others may be small in

scale and must relying on double-duty staff. Manpower difficulties and problems likely differ among departments.

4.4 Psychological support in genetic counseling What is the position of psychological support in genetic counseling? We asked whether

they generally included psychological support in genetic counseling (questionnaire C14).

Thirty (85.7%) of 35 institutions answered “Yes,” showing that the majority of institutions employed psychological support. We further asked the relevant medical institutions about

the composition of professions in charge of psychological support. In this case, multiple

answers were allowed. Respondents chose answers from “done by a medical doctor,” “by a certified genetic counselor,” “with a psychological specialist,” “by a psychological specialist

alone,” “by other institutions/departments referred,” and “by others.” The results are

summarized in Table 16. In this table, “psychological specialist (supporter)” denotes that a psychological specialist accompanies the support care; “psychological specialist

(independent)” denotes that a psychological specialist takes charge alone; and

“psychological specialist (supporter/independent)” denotes that a psychological specialist can be present at support care or give it independently.

Medical doctors provided psychological support alone in half of the institutions. Other

institutions gave psychological support in various ways. Professionals skilled in counseling, represented by psychological specialists and certified genetic counselors, were involved in

the duty as either supporters or an independent counselors in 8 institutions (27.6%).

Clients receive care from professional counselors in approximately one-fourth of the institutions at present. Institutions where psychological specialists could cooperate in

medical care with doctors and simultaneously be involved with the client alone were only 3;

these types of institutions were not so common. Four institutions (13.8%) made use of other institutions and departments, but it was not clear what institutions and departments

they align with. In the case of “others,” 3 institutions specified as nurses (genetic nurses)

and 1 specified as midwife. One facility answered that “a psychologist specialist can take over the job at any time when the case is difficult for the doctor alone.”

33

Table 16. Profession taking part in psychological support of genetic counseling

Instit. ％

Doctor only 15 51.7

Certified genetic counselor only 1 3.4

Doctor + Psychological specialist (independent) 2 6.9

Doctor + Psychological specialist (joint/independent) 1 3.4

Doctor + Certified genetic counselor + Psychological specialist（ joint/independ） 1 3.4

Doctor + referral to other institution/department 3 10.3

Doctor + referral to other institution/department+other 1 3.4

Doctor + other 2 6.9

Certified genetic counselor + Psychological specialist (joint) 1 3.4

Psychological specialist (joint/independent) 1 3.4

Psychological specialist (independent) + other 1 3.4

Total 29 100.0

Missing=6

5. Current Situation and Issues of Presymptomatic Diagnosis

The section discusses the current situation and issues of presymptomatic diagnosis.

Genetic medicine originally aimed at predicting and preventing hereditary diseases by use

of personal genetic information. Recent achievements in genetic studies enabled us to accurately predict the onset of some diseases. Such diseases include illnesses that

develop in almost 100% of carriers but cannot be treated or prevented by any means at

this time (Huntington's disease and myotonic dystrophy, etc.). Genetic medicine is used by clients living a healthy life who wish to know whether they are

likely to be affected by disease in the future. Assessing risks of prospective illness often

causes a variety of problems in clients suspecting such illness. Staff are confronted with diverse issues. Is the client going to receive the test? When it is positive, how can the

client accept the result? What is the best plan for the client’s future? What relationship

does the family make with the client? Continuous support is essential. There is also a problem of discriminatory treatment based on genetic test results on the occasions of

school entry, employment, marriage, and enrollment in insurance, as well as conflict

between the right to maintain the confidentiality of test results and the benefits of disclosing test results to relatives for early diagnosis and disease prevention (Shimoda

2007:95-96). Some issues in presymptomatic diagnosis are difficult to solve within the

conventional framework of medicine. These issues will be more obvious as genetic medicine becomes more widely available. The present section discusses presymptomatic

diagnosis that enfolds the problems described above, focusing on the current situation and

issues in practical settings.

34

5.1 Implementation status of presymptomatic diagnosis The number of tests performed for presymptomatic diagnosis and that of counseling help

us to understand the present condition of presymptomatic diagnosis. In this survey, 62

chromosome tests and 9 DNA/gene tests were performed as presymptomatic tests for monogenic disease (question B4), and 117 genetic counseling sessions were performed in

relation to the tests (question C12). Among the disease areas asked in Question 13,

“nerves, muscles, and mentality” and “familial tumor” may include tests relevant to presymptomatic diagnosis (384 and 62 tests were performed for “nerves, muscles, and

mentality” and “familial tumor,” respectively.).

Presymptomatic diagnosis was investigated by Fukushima Survey 2006 (Yoshida et al. 2007). 31 According to the results, 322 clients visited 46 medical institutions for

presymptomatic diagnosis during the 2 years from April 2004 to March 2006. Myotonic

dystrophy (DM1) was found in 150 cases, spinocerebellar ataxia (SCA) in 86, spinal and bulbar muscular atrophy (SBMA) in 40 and Huntington's disease (HD) in 31.

Based on the 2 surveys, the annual number of counseling sessions performed for

presymptomatic diagnosis was 117 (GEN Survey 2005) to 161 (Yoshida et al., 2007). Of these, about 60% proceeded to genetic tests. 32 The actual number would be higher if the

response rate were taken into account.

5.2 Important matters in genetic counseling In situations of genetic counseling related to presymptomatic diagnosis, counselors should

consider the client’s beliefs, personal relationships, backgrounds prior to visiting GMD, and other psychosocial aspects. Our questionnaire investigated important matters when

genetic counseling is provided in connection with presymptomatic diagnosis. Respondents

were asked to evaluate the importance of five category items (“necessity of psychosocial support,” “importance of not knowing,” “difficulty of disclosing information to relatives,”

“role of religious beliefs,” and “influence of local tradition or values [blood, lineage, etc.])”

on a 4-point scale of “deeply concerned,” “concerned to some extent,” “slightly concerned,” “not concerned” (question C16). Answers were scored as follows: “deeply concerned”=4

points; “concerned to some extent”=3 points; “slightly concerned”=2 points; “not

concerned”=1 point.31 In all items asked, the percentage of positive answers (“deeply concerned” and “concerned

to some extent”) was higher than that of negative answers (“slightly concerned” and “not

concerned”) (see Fig. 6). Almost 100% of respondents evaluated the “necessity of psychosocial support” important and it gained the highest mean score (3.76) among the

five items (see Fig. 6, next page). More than 80% of respondents answered that it is

important for counselors to approach clients in a positive manner (“difficulty of disclosing information to relatives” and “importance of not knowing”), which gained the second and

third highest points (the mean was 3.57 and 3.55, respectively). In contrast, few answers

evaluated the client’s spiritual aspects as “deeply concerned” consistent with the lower

35

score point (the mean score for “religious beliefs” was 2.68; “local tradition or values” 2.89).

5.3 Problems occurring in genetic counseling We investigated the frequency of problems that occurred in genetic counseling provided in

connection with presymptomatic diagnosis using the same five items. Respondents were

asked to evaluate the frequency of problems corresponding to these categories on a 4-point scale of “frequent,” “occational,” “rare,” and “no” (question C17). Answers were

scored as follows: “frequent”=4 points; “occational” =3 points; “rare”=2 points; “no”=1

point.32 The results are shown in Fig. 7. Among all items, “difficulty of disclosing information to relatives” gained the highest mean

score (3.16), in which 12 institutions answered that it frequently becomes a problem (see

Fig. 7). The “importance of not knowing,” “necessity of psychosocial support,” “influence of local tradition or values,” and “role of religious beliefs” followed in the order of scores,

respectively. Spiritual factors and religious beliefs or local tradition and values were

unlikely to cause problems for the healthcare provider side.

7

4

18

17

22

13

12

11

11

7

6

8

1

1

2

2

3

5

1

2

1

4

4

4

4

5

0% 20% 40% 60% 80% 100%

Influence of local t r adit ionor values (2.89)

Roles of r eligious belief (2.69)

Difficu lty of disclosinginfor m at ion to r elat ives (3.57)

Im por tance of "not knowing"(3.55)

N ecessity of psychosocial suppor t (3.76)

Deeply concer ned Concer ned to som e exten tSligh t ly concer ned N ot concer nedDo not know Missing

Figure 6. Priority in presymptomatic diagnosis *Average point of each item is shown in parentheses. Figures in the graph show number of institutions

which selected the option.

36

3

1

12

8

9

8

4

8

11

9

7

8

2

2

4

6

9

3

3

3

3

5

2

3

2

8

8

8

8

8

0% 20% 40% 60% 80% 100%

Influence of local t r adit ionor values (2.33)

Roles of r eligious belief (1.86)

Difficu lty of disclosingin for m at ion to r elat ives (3.16)

Im por tance of "not knowing"(3.00)

Necessity of psychosocialsuppor t (2.96)

F r equen t pr oblem Occasional problemRar e problem No pr oblemDo not know Missing

Figure 7. Topics coming to issue in presymptomatic diagnosis

*Scored point of each item is shown in parentheses. Figures in the graph show number of responses.

We wanted to discuss problems occurring with genetic counseling further with question

C18. The question asked respondents to describe the problem category they chose in question C17, if the problems “frequently” or “occationally” occurred. Of 23 institutions that

had problems (“frequent” or “occational”), 14 institutions responded.33 The descriptive

answers are categorized by the five items used in C16 and C17 and discussed in the section below.34

One of the problems categorized to the “necessity of psychosocial support” suggested that

it was difficult to approach clients who recognized the need of support but did not like continuing support. Problems concerning the “importance of not knowing” suggested that

clients could not easily understand the idea because most of them received

presymptomatic diagnosis and hoped to know the result. Some indicated mental conflict, expressing that counselors felt unsure if the client really wanted to know the diagnosis

result. Problems categorized to the “difficulty of disclosing information to relatives” were

most frequently noted. This problem category is emphasized in GMD, but as previously mentioned, it often causes a problem. They described that they often had difficulty in

collecting information when making a family tree, which is essential for genetic tests, and

also in telling the client’s brothers, sisters, or relatives of a positive result. No answers included problems categorized to the “role of religious beliefs” and “influence of local

tradition or values.”

Answers that cannot be categorized to either of the five items included those listing

37

specific disease names such as Huntington’s disease and myotonic dystrophy and those describing pregnancy-related problems. The pregnancy-related problem concerned

anxiety over hereditary disease that may develop in the client’s child. One answer, which

could not be categorized, described a complaint about a lack of manpower in GMD. Question C19 also asked respondents to write down problems other than the five items

that arise in genetic counseling related to presymptomatic diagnosis, if any.35 The

problems submitted could be categorized into “facility management,” “counseling practice,” or “clients’ future.” The “facility management” problems included financial problems;

medical service fee was too low to continue genetic counseling; clients are too few to build

up staff experience. In “counseling practice,” it was indicated that genetic tests for children or unconscious patients were questionable. Lastly, problems about “clients’ future”

included that predicting the client’s action was difficult after informing a client of a

presymptomatic diagnosis. Others included the client’s prospect in life and life insurance contract.

38

6. Literature

Iwae, Sosuke 2008: Policy and Regulatory System on Genetic Medicine in Japan, Journal of Medicine, Life and Ethics, Society, vol.7. [In Japanese]

Shimoda, Motomu 2007: Genetics and Medicien, in: Medicine and Life, Kyoto:

Nakanishiya-Shuppan. [In Japanese]

Niikawa, Norio et al. 2003: Manual of Genetic Counseling, Nankodo. [In Japanese] Fukushima, Yoshimitsu 2007: Genetic Medicine and Society, in: Genetic Medicine and

Ethics, Law and Society, pp.10-19, Medical-Do. [In Japanese]

Wakui, Keiko 2007: Genetic Testing, in: Genetic Medicine and Ethics, Law and Society, pp.98-110, Medical-Do. [In Japanese]

Yoshida, Kunihiro, Wada Takahito, Sakurai Akihiro, Wakui Keiko, Ikeda Shu-ichi,

Fukushima, Yoshimitsu, 2007, “Nationwide Survey on Predictive Genetic Testing for Late-onset, Incurable Neurological Diseases in Japan,” Journal of Human Genetics, 52(8): 675-679.

7. References [In Japanese] [1] Report of Results on “Survey concerning Genetic Medicine” in 2003 (http://genet

opia.md.shinshu-u.ac.jp/genetopia/information/pdf/reference1.pdf) [2] Report of the 4th National Network of Departments of Genetic Medicine in 200

6 (http://genetopia.md.shinshu-u.ac.jp/genetopia/information/pdf/4thConference-repo

rt.pdf) [3] Guidelines concerning GeneticTesting in 2003 (http://www.congre.co.jp/gene/11guid

eline.pdf)

[4] Regulation on the System of Clinical Geneticist in 2002 (http://jbmg.org/about/text/senmon_kisoku.doc)

[5] Regulation on the System of Certified Genetic Counselor in 2006 (http://plaza.um

in.ac.jp/~GC/dl/2_seido/seidokisokuver5.pdf)

39

8. Notes 1 Therefore, the present article cannot fully investigate the current situation of other

medical institutions that may be involved in genetic medicine. This remains to be studied in the future.

2 “Information for genetic medicine system development in Japan” in GENETOPIA, the clinical genetics online network managed by the Division of Clinical & Molecular Genetics, Shinshu University Hospital (http://genetopia.md.shinshu-u.ac.jp/genetopia/information/genetics_medical.htm). See references [1] and [2].

3 We checked if they had ODG from hospital websites found in the participants lists of the first to third annual meetings of the NMDGM.

4 See Survey Overview for the bias of hospitals surveyed.

5 Guidelines issued by the Ministry of Education, Culture, Sports, Science and Technology, the Ministry of Health, Labour, and Welfare, and the Ministry of Economy, Trade and Industry. It was revised in 2004 with the issue and enforcement of the Privacy Protection Law.

6 Iwae (2008) thoroughly reviewed the promotion policy for gene analysis studies and genetic medicine and ideal regulations by both authorities and expert groups mentioned here.

7 See Section 2-2-1 for clinical geneticists.

8 A serious problem remains even if the laboratory does not withdraw, because researchers have to voluntarily continue the study as social contribution (reference [2], p.48).

9 Many clinical geneticists are specialized in obstetrics, gynecology, pediatrics, orinternal medicine too. For clinical geneticists, the regulations (reference [4]) published in the Japanese Board of Medical Genetics website (http://jbmg.org) were referred.

10 As of now, an interim measure is provided. Applicants can receive the qualification of examinees without completing specified master course if they satisfy other requirements. For certified genetic counselors, the regulations (reference [5]) published in the Japanese credential board of genetic counselors website (http://plaza.umin.ac.jp/~GC/) were referred.

11 Concerning certified genetic counselors, technical and research staff for genetic testing, and expectant specialists in Table 4, some entered “unspecified” or “unknown” in the column to write the number of double-duty staff. Because of this, the cumulative number of double-duty staff may exceed 310. The numberof certified specialists may partly overlap with the number of other occupations.

12 Since the question (A2) asked the number of staff engaged in genetic medicine or more specifically, genetic tests and diagnosis, the occupations involved in counseling comprise slightly small percentage. For staff participating in genetic counseling and the number, see Sections 4-3 and 4-4.

13 One facility had both certified genetic counselors and psychological specialists.

14 Since Fukushima survey 2006 had no question to ask work styles by occupations, it is impossible to determine which occupation is employed full-time. Values were calculated from the table in reference [2], p76. If these value are calculated from GEN Survey 2006

40

independent of occupations in a similar manner, the number of the institutions with full-time staff amounts to 7 (20.6%) of 34 institutions.

15 In the institutions that answered they had no genetic medicine staff, doctors from individual service departments (gynecology and obstetrics or pediatrics, etc.) may be responsible for genetic medicine.

16 Answers collected by Fukushima survey 2006 described the current issues in genetic medicine departments as follows: all staff, working across other service departments, is busy with heavy workload; no one works full-time.

17 To compare with the results in Austria and German, we asked to answer the number of tests performed not in fiscal year (April to next March) but in calendar year (January to December). Some institutions answered the number in fiscal year, others answered it from April to December 2005. Strictly speaking, this is not the total derived from January to December 2005, but readers are requested to regard it as the total analysis for 1-year data around 2005.

18 Section 3 only discusses the number of genetic tests performed. There would be many clients who visit GMD but withdraw from test. See Section 4 for the implementation status of counseling.

19 One facility missed to answer the number of tests in some disease areas in the question B4, though gave valid answers for other areas. Descriptive statistics of this facility were calculated regarding the number of tests performed as zero. The same applies to Section 3-3.

20 Presymptomatic test for monogenic disease were performed nine times. As is the case for chromosome tests, the actual testing number would be higher.

21 This question asked to answer the number of tests performed not in fiscal year (April to next March) but in calendar year (January to December) as B4. Some institutions answered the number in fiscal year, others answered it from April to December 2005.

22 Of course, a single counseling may be enough to satisfy the client’s needs, but it is possible that the client is unsatisfied and turns from next counseling. GEN Survey 2006 data cannot distinguish the difference.

23 For questions and answers for presymptomatic diagnosis, see Section 5.

24 Disease areas were based on Shinkawa and Fukushima’s study (2003).

25 In one case, two different disease areas were written in the fifth rank in the same number. They were tallied in the fifth rank, too. Because some institutions did not list all five areas depending on the number of counseling they performed, the total number of choices does not agree with the multiple numbers of the institutions.

26 See Section 3 for changes in the cumulative number of genetic tests.

27 Based on Fukushima’s estimation from Fukushima survey 2006 data (reference [2]).

28 We conducted an interview in addition to the questionnaire survey and found that not a few clients told quite different intention, disease name, and family information from those told at appointment during practice. In this case, prepared information went to waste. They reported that they had to do initial counseling without necessary information at full. Limited information from appointment calls and the uncertainty may partly complicate genetic counseling practice. The results of the interview to genetic medicine staff are to be published in a separate paper.

41

29 Yoshida et al. surveyed about presymptomatic diagnosis of late-onset, hereditary

neurological diseases.

30 Estimated from GEN Survey 2006 where 117 counseling sessions were conducted for monogenic disease and 71 presymptomatic tests were performed.

31 “Unknown” and “no response/not applicable” were handled as a missing value.

32 “Unknown” and “no response/not applicable” were handled as a missing value.

33 The number of answers does not agree with 14 because one facility gave multiple answers.

34 For details of answers in the question C18, see the simple computation table.

35 For details of answers in the question C19, see the simple computation table.

42

Documents

Current Situation and Issues of Genetic Medicine in …4.2 Operation of genetic counseling 27 4.2.1 Time and fee of genetic counseling27 4.2.2 Other operational situations (outpatient