The Japan Society of Human Genentics
1. From the background to the foundation of JSHG
Gregor J. Mendel discovered laws of
inheritance in 1865, however, his achievements had little impact. It was
not until 1900 that the enormity of his ideas was realized (rediscovery
of the Mendelian laws). Although, in 1902, the inheritance of alcaptonuria
in man was reported to correspond to an autosomal recessive mode, studies
of human heredity gave very few contributions to the further developments
of genetics, and researches were almost confined to the fields of the plant,
drosophila, fungus, E. coli and the bacteriophage. Because of impossible
random mating and long one-generation in man, the species human was considered
to be inappropriate for genetic researches.
Meanwhile, much knowledge was accumulated
and a number of methodologies were developed to solve and answer long-standing
problems/questions for human heredity, such as discovery of hemoglobinopathy,
disclosure of insulin structure, discoveries of various enzymes, and development
of immunology. In 1953, James Watson and Francis Crick proposed a DNA double-helix
model, and in 1956, the human chromosome number was determined to be 46.
During this period, Japanese geneticists gave great contributions to the
development of human genetics, e.g., discoveries of three-allelism for
the ABO blood group by T. Furuhata, less frequency of dizygotic twins in
the Japanese than in other races by T. Komai, cytoplasmic inheritance by
Y. Imai and D. Moriwaki, and of acatalasemia by S. Takahara [1, 2]. Before
the World War II, a small group of Japanese geneticists made a genetics
association where they meet regularly. Unfortunately, the association had
to stop acting by the war. If it had held its activity, the meeting would
have become the first human genetics society before the establishment of
the American Society of Human Genetics (ASHG). In addition, a series of
journal "Human and Heredity" was published in Osaka eight-times
by H.Tomita and his colleagues.
The Japan Society of Genetics (general genetics)
was working actively, but human heredity tended to be outside its scope.
Therefore, in 1955, Dr. K .Tanaka appealed to some geneticists for the
necessity of a society for human genetics, promoted to establish the society.
Drs. N. Iseki, E. Inoue, K. Okura, M. Okajima, K. Kishimoto, K. Tanaka,
Y. Hanta, H. Mitsuda, U. Murakami, T. Yanase, and others who became agreed
Dr. Tanaka’s proposal and promoted to establish the society. A promoting
meeting was held in October, and a preparatory committee began in December,
1955. The Japan Society of Human Genetics (JSHG) was then established and
the First Annual Meeting was held at Kitazato Auditorium of Keio University
in June 2-3, 1956. The first President of JSHG was appointed to Professor
T. Furuhata. In the same year, First International Human Genetics Conference
was held in Copenhagen, and Department of Human Genetics was first founded
in Tokyo Medical and Dental University.
2. Further steps of the society development
Researches at the time of the establishment
of JSHG mainly included family analysis regarding Mendelian traits, effects
of consanguinity (K. Tanaka), studies of isolated populations (T. Yanase),
twin studies (E. Inoue) as well as studies on blood groups (by forensic
geneticists). Since Down syndrome was found to be caused by trisomy 21
by Lejeune et al., many cytogeneticists admitted to JSHG and they became
a majority of its members. In addition, immunogenetics greatly progressed
during a period of 1950s and 1960s.
In the 1970s, chromosome banding techniques
appeared, biochemical researches on inborn errors of metabolism advanced,
and prenatal diagnosis became practical. In the 1980s, various molecular-genetics
technologies were growing, and consequently, these made DNA-based diagnosis
reliable. Such technologies are used for the clarification of causes of
not only genetic diseases but also chromosomal aberrations and multifactorial
diseases. Two-thirds or more (70-80%) of papers presented in recent JSHG
annual meetings are those using these methods. Along with the growing of
genetic testing and clinical genetics, there are increasing papers/reports
regarding bioethics (ELSI) and genetic counseling.
Genetic traits of which causative genes are
cloned by JSHG members include argininemia, prolidase deficiency, maple
syrup urine disease, beta ketothiolase deficiency, xeroderma pigmentosum
(group A), MELAS syndrome, X-linked amerogenesis, ceruloplasmin, Morquio
syndrome, familial polyposis/colon cancer, ABO blood group, DRPLA, Machado-Josef
disease, non-ketosis type hyperglycinemia, congenital insensitivity to
pain with anhidrosis, Beckwith-Wiedemann syndrome, isolated macular hypoplasia,
spinocerebellar axaia, Parkinsonim juvenile type, Fukuyama muscular dystrophy,
Engelmann disease, Sotos syndrome, Marfan syndrome type 2, Costello syndrome,
earwax type, disk herniation, cardiac infarction-related gene, and so on
[4].
JSHG consisted of 285 members initially,
521 ten years later in 1966, 858 in 1976, over 1000 in 1986, and of over
2,500 including oversea members in 2005.
JSHG was publishing "Japanese Journal of Human Genetics (Jpn J Hum Genet)" as the offical journal since the society establishment. However, as it was listed as "ZINRUI IDENGAKU ZASSI" in the Index Medicus, renewal was tried and was successful in 1992 as "Japanese Journal of Human Genetics (Jpn J Hum Genet)", together with changes of its cover page design and book size (from B5 to A4). From volume 43, “Journal of Human Genetcs” has been issuing by the publisher, Springer Verlag, since 1998. It became bi-monthly from 1998, and then monthly since 2001. With much effort by Editor(s)-in-Chief, many manuscripts are submitted from oversea insitutions/geneticists, and Impact Factor, an indicator of journal quality in the world, reaches over 2.3 from previous ~0.4.
3. Executives
JSHG had secretaryship since the first time
to support President, then Boards of Directors, Councilors and Inspectors
were establlished, and they all hold the society. Councilors are elected
through voting by society members, and President, Directors, and Inspectors
are elected by Coucilors. Four-year presidential term with non-reseating
is the rule. The term of other executives is two years and they are reseatable.
In 2004, there are 10 Directors (two of whom are those appointed directly
by President) and two Inspectors. The whole country of Japan is divided
into 47 districts, and one councilor is elected for every 15 members in
each district.
For accounting and routine practices of business,
JSHG has Treasurer, Secretary (for General Affairs), and Publications Manager,
and in addition, the Journal Editor (Editor-in-Chief) for JHG. They are
appointed by President under the agreement by Board of Directors. Previous
presidents, and current directors, treasurer, secretary, inspectors, editors-in-chief,
and councilors are shown elsewhere.
Current 'Bylaws of JSHG" is the one
revised in October, 1998 [Please see references, and J Hum Genet 44 (4),
1999]. The four-year term rule for Directors and Councilors was agreed
and approved in General Assembly (Membership Meeting) in October, 2000.
4. Activity of JSHG
Usually, annual meeting is held in autumn, and lectures open for the public as needed. In response to the increase of genetic testing and its application to disease families, JSHG, in cooperation with 9 other medical genetics-related societies, proposed and established several guidelines on genetic testing and genetic counseling, and is calling for a thorough respecting them [References]. In order to aim at more spreading genetic medicine, JSHG, together with other medical societies, petitioned for the Ministry of Health, Labor and Welfare in 1996 to consider "genetic counseling" to be incorporated into the national health insurance system.
With the aim at promoting human genetics
researches, JSHG established "The JSHG Award" to honor outstanding
human geneticist(s) for his/her achievements (the first recipient was awarded
in 1960). In 1989, "The JSHG Encouragement Award" was also established
to honor young geneticist(s) for his/her achievements [for recipients for
both awards, please see reference.]
In order to improve the practical levels
of medical geneticists who get involved in clinical genetics, “the Japanese
Board of Medical Genetics, Clinical Geneticist” was established in 1991,
and a total of 396 clinical geneticists have been qualified by 1999, and
25 (61 when included those transitionally qualified) institutions/hospitals
where trainees are trained have been authorized. The Japanese Board of
Medical Genetics was recognized officially by the National Board of Medical
Specialist and has certified nearly 600 medical geneticists. Also, "Japanese
Board of Medical Genetics, Clinical Cytogeneticist” was established in
1995, and a total of 369 cytogeneticists have been qualified, and 46 institutions
/clinical reference laboratories where trainees are trained are authorized
by 2005. In addition, the near future, the Japanese Board of Medical Genetics,
Genetic Counselor (genetic counselors other than medical doctors) has started
in 2005.
In view of the importance of knowledge of
heredity and genes in the education at schools of medicine, nursing and
applied heath sciences, the Education Committee has been researching the
present state of human genetics education. It is obvious that much effort
is necessary to enrich human genetics-related education. Incorporation
of genetic counseling into the national health insurance system and governmental
certification of genetic counselors are longstanding problems.
References
1) Yanase T: Human genetics: Past, present and future, with special reference to major trends in Japan. Jpn J Hum Genet 42:265-316, 1997.
2) Yanase T: Development of Human Genetics - From the First Stage to Incunabula -. Iden 53: Nos. 1-3, 1999 (in Jpn).
3) Tanaka K: A Memory of the Initial Stage of the Japan Society of Human Genetics. Iden 35(7): 77-80, 1981 (in Jpn).
4) “Home Page” at National Children's Medical Center Research Institute, Department for Congenital Anomaly. http://genetics.nch.go.jp/jpn.htm
