Current Situation and Issues of
Genetic Medicine in Japan
From the Questionnaire Survey
on Genetic Medicine
and its Sociocultural Aspects
Akiko IWABUCHI
Tadashi KUDOH
( O t e m o n G a k u i n U n i ve r s i t y, F a c u l t y o f S o c i o l o g y)
( O s a k a U n i ve r s i t y, G r a d u a t e S c h o o l o f H u m a n S c i e n c e )
Motomu SHIMODA
( O s a k a U n i ve r s i t y, G r a d u a t e S c h o o l o f M e d i c i n e )
Narifumi NAKAOKA
( O s a k a U n i ve r s i t y, G r a d u a t e S c h o o l o f L e t t e r s )
Yumi NISHIMURA
( O s a k a U n i ve r s i t y, C e n t e r f o r t h e St u d y o f
Communication-Design
August 2008
Contents
Introduction
4
1. Survey Overview
4
1.1 Population ............................................................................. 4
1.2 Methods .............................................................................................. 4
1.3 Retrie val results .................................................................................. 5
1.4 Classification of medical institutions .................................................. 5
1.5 Pre vious 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 o f new departments and reasons of Genetic
Medicine Department ........................................................................ 7
2.1.3 Research acti vities ......................................................................... 11
2.2 Personnel of Genetic Medicine Department ......................... 12
2.2.1 Professional staff in GMD ............................................................... 12
2.2.2 Staff o ver view ................................................................................ 13
3. Current Situations and Issues of Genetic Testing
3.1
3.2
3.3
3.4
17
Overview .............................................................................
Number of chromosome tests performed .............................
Number of DNA/gene tests performed .................................
Implementation status of genetic tests ................................
4. Current Situation and Issues of Genetic Counseling
17
17
19
20
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 sessi ons per client pair in 2005 ................... 22
4.1.4 Genetic test-relat ed counseling in 2005 .......................................... 22
4.1.5 Disease areas co mmon in genetic counseling during 2005 .............. 24
4.1.6 Changes in the number of counseling sessions o ver 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 ser vice 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
University hospitals
Of which num. of respond. inst.t.
Other medical
Of which num. of respond. inst.
Total
Total of responding institutions
Support in each dept.
Total
44 （61.1）
28 （38.9）
72 （100.0）
21 （75.0）
7 （25.0）
28 （100.0）
14 （70.0）
6 （30.0）
20 （100.0）
5 （71.4）
2 （28.6）
7 （100.0）
58 （63.0）
34 （37.0）
92 （100.0）
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
Th e n u mber of in s titu ion s
10
Begin n in g of su ppor t in each
depar t m en t
8
Est ablish m en t of ODG
6
4
2
0
74
75
80
90
93
94
99
00
01
02
03
04
05
06
year
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
Th e n u mber of in s titu ion s es ta blis h ed
were ODG can be explained by this.
16
14
12
10
8
6
4
2
0
Befor e
2000
00
01
02
03
04
05
06
year
F u k u sh im a Su r vey 2003
GEN Su r vey 2006
F u k u sh im a Su r vey 2006
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
310 （ 79.9） 42 （10.8）
388
Total
36 （ 9.3）
*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
Number 1)
Instit.
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 Geneticist 3)
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
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
7
0
0.0
7
20.6
0
0.0
7
20.6
Certified genetic
Counselor
Others
*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
Number of staff（size）
Breakdown of total num.
Total
1)
num.
Instit.
Full time
Concur.
Part time
Average staff
2)
by size
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
34
388
36
310
42
11.41
Total
*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.
Ch r om osom e
578
DN A/gen e
660
310
39
90
28
3
62
185
9
Tot al
888
699
118 71
185
3
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Test s for clin ical diagn osis
P r en at al t est
Gen e-car r ier t est
P r esym pt om at ic t est s of m on ogen et ic diseases
Disease sen sit ivit y t est
Dr u g sen sit ivit y t est
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
Implementing
instit.
Total
number
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
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
―
―
―
―
Chromosome tests and diagnosis
domains
Chromosome tests
Presymptmatic test of monogenic
Instit.
1)
Max.
Min.
2)
Average
disease
*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
Implementing
instit.
Total
number
33
19
574
188
1
17.4
Tests for clinical diagnosis
33
14
310
103
2
9.4
Prenatal test
32
8
39
22
1
1.2
Gene-carrier test
33
7
28
8
2
0.8
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
Paternity test
30
0
―
―
―
―
Other test
32
0
―
―
―
―
DNA/gene tests and diagnosis
domains
DNA/gene tests
Presymptmamatic test of
monogenic disease
Instit.
1)
Maxim.
2)
Minim.
Average
*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
Instit.
Genetic tests
1)
Implementing
instit.
Total
number
Maxim.
2)
Minim.
Average
33
27
1964
432
2
59.5
Tests for clinical diagnosis
33
20
888
400
1
26.9
Prenatal test
32
19
699
224
1
21.8
Gene-carrier test
33
10
118
30
2
3.6
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
Paternity test
30
0
―
―
―
―
Other test
32
0
―
―
―
―
Presymptmatic test of monogeic
disease
*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.
Disease sensit ivit y
t est , 0.3% (5)
P at er nit y t est ,
0.4%(6)
Ot her t est ,
4.9% (83)
Test s for clinical
diagnosis, 25.7%
(438)
P r esympt mat ic t est
of monogen ic
disease, 6.9% (117)
Gene-car r ier t est ,
13.7% (233)
P r 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
Nerve, muscle, mentality
Ophthalmology and
otorhinolaryngology
1
2
3
4
5
Total
number
Total
rank
7
6
3
4
1
21
②
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
0
0
1
0
1
2
0
0
1
2
1
4
6
7
Kidney, urinary tract
and genitalia
Bone and connective
tissue
8
Skin
1
1
0
1
2
5
9
Metabolism
1
2
4
3
1
11
10
Adult disease
0
0
1
0
0
1
11
Endocrine
1
2
1
2
1
7
1
0
0
1
2
4
12
Blood, coagulation and
immunity deficiency
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
Disease area
Implementing
instit.
Valid
response
21
Stand.
div.
2）
Minim.
20
384
1
230
19.2
50.4
23.2
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
2
1
1
1
1
1.0
―
0.1
4
4
9
1
4
2.3
1.3
0.5
5
5
25
1
12
5.0
4.5
1.5
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
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
Nerve, muscle,
mentality
Ophthalmology and
otorhinolaryngology
Kidney, urinary tract
and genitalia
Bone and connective
tissue
Skin
Metabolism
Blood, coagulation and
immunity deficiency
Maxim.
1）
Num.
Average
％
*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
1600
25
1400
20
1200
1000
15
800
10
600
400
5
200
Nu mber of implemen tin g in s titu tion s
Nu mber of gen etic cou n s elin g s es s ion s
30
1800
0
0
96
97
98
99
00
01
02
03
04
05
Year
N u m ber of gen et ic cou n selin g session s
N u m ber of im plem en t in g in st it u t ion s
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
Full time
+
Concur.
Breakdown
%
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
3.1
3
1.4
0.09
0
1
1
2
33.3
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
17
8.1
0.50
0
6
0
17
0.0
209
1000
6.15
3
28
22
187
10.5
Certified genetic
counselor
Psychological specialist
Personnel preparing to
qualify
Total
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.
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
Clinical geneticist
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
29
100.0
Total
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.
N ecessit y of psych osocial
su ppor t (3.76)
22
Im por t an ce of "n ot k n owin g"
(3.55)
7
17
Difficu lt y of disclosin g
in for m at ion t o r elat ives (3.57)
11
18
Roles of r eligiou s belief (2.69)
4
In flu en ce of local t r adit ion
or valu es (2.89)
1
11
12
8
7
0%
1
13
20%
40%
Deeply con cer n ed
Sligh t ly con cer n ed
Do n ot k n ow
2
6
60%
2
4
1 1
4
5
2
5
4
3
80%
4
100%
Con cer n ed t o som e ext en t
N ot con cer n ed
Missin g
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
N ecessit y of psych osocial
su ppor t (2.96)
9
Im por t an ce of "n ot k n owin g"
(3.00)
8
Difficu lt y of disclosin g
in for m at ion t o r elat ives (3.16)
9
4
11
2
12
Roles of r eligiou s belief (1.86) 1
In flu en ce of local t r adit ion
or valu es (2.33)
4
3
0%
8
8
3
3
2
9
8
40%
8
3
3
8
2
8
5
7
20%
2
6
8
3
60%
F r equ en t pr oblem
Occasion a l pr oblem
Rar e pr oblem
N o pr oblem
Do n ot k n ow
Missin g
8
80%
100%
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 4 th 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, t he
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) a sked 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, s ee the simple computation table .
35
For details of answers in the question C19, s ee the simple computation table .
42