Human genetics

from Wikipedia, the free encyclopedia

The Human Genetics is a branch of genetics , specifically with the genetic makeup of people busy. As an interdisciplinary science , it combines medical diagnostics , therapy and prevention of hereditary diseases with molecular biological methodology and research on the orthology and pathology of human inheritance.

The term human genetics was mainly introduced by the hereditary biologist Günther Just before "human genetics" became established in the USA after the American Society of Human Genetics was founded in 1948 .

Classification of human genetic methodology

  1. Cytogenetics : Examination of human chromosomes using fluorescence microscopy . One tries to find peculiarities in chromosome sets and to assign certain clinical pictures , syndromes or cancerous tumors . Example: karyogram
  2. Molecular human genetics: the study of individual genes or sections of DNA . Example: mutation analysis by genetic testing

Human genetics include research into hereditary diseases and the preparation of parentage reports as well as human genetic advice .

After the human genome in the Human Genome Project was largely decoded, it is now mainly about the functions of individual genes and their interaction in the context of proteomics to explore. Overall, the human genome contains around 20,000 to 25,000 genes.

Medical genetics

The Medical Genetics (referred to in the media and medical genetics) is the part of the field of human genetics, which deals with the diagnosis and treatment of hereditary diseases busy. It was created in the post-war period. Victor McKusick (1921–2008) is considered to be the founder . His work Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders from 1966 and reissued since then is one of the standard works of medical genetics.

Medical specializations


The association of Swiss doctors meets the following definition in the advanced training program for the "Specialist in Medical Genetics" from January 1, 1999 as of 2011:

“Medical genetics is the area of ​​human genetics that deals with the effects of human genetic variation on health and disease. It includes the detection of genetically determined, i.e. H. chromosomal, monogenic, multifactorial, mitochondrial diseases or the underlying predispositions, their pre- and postnatal (including presymptomatic) diagnosis and classification using genealogical, clinical, biochemical, molecular genetic and / or cytogenetic examination methods. This also includes the differential diagnosis of non-genetic diseases. "


In Austria , the title “Specialist for Medical Genetics” was introduced with the Medical Training Regulations on January 1, 2007, in order to enable the “Euro-compliant area designation for specialists in the field of human genetics”. The "Specialist in Medical Biology" has been renamed accordingly. The regulation uses the following definition:

“The specialty medical genetics includes the diagnosis of genetically determined diseases, the determination of the disease risk, genetic counseling for patients and their families, as well as subject-specific basic research and applied research, in particular through the use of cytogenetic, biochemical and molecular genetic methods and the application of knowledge the course and the laws of biological functions in humans, the etiology and pathogenesis of hereditary and hereditary diseases, general human genetics, cytogenetics, molecular genetics, dysmorphology, clinical genetics including syndromology, population genetics and genetic epidemiology. "


In Germany , the "specialist in human genetics" is decisive. The advanced training regulations of the state medical associations in Germany initially contained the following definition for the "specialist in medical genetics":

"Medical genetics includes clinical diagnostics and differential diagnostics of genetically determined diseases, taking into account laboratory diagnostic possibilities as well as risk assessment and genetic counseling for patients and their families."

According to the definition of the German medical associations, the following definition currently applies from a medical point of view:

"The field of human genetics encompasses the education, detection and treatment of genetic diseases, including genetic counseling of patients and their families as well as doctors working in health care."

Job titles in the European Union

There are the following specializations in medical genetics by country:

country designation
Czech Republic Lékařská genetika
Denmark Clinical genetics
Germany Human genetics
Estonia Meditinigenetics
Greece -
Spain -
France Génétique médicale
Ireland Clinical genetics
Italy Genetica medica
Cyprus -
Latvia Medicīnas ģenētika
Lithuania Genetics
Luxembourg Médecine génétique
Hungary Clinical genetics
Malta -
Netherlands Clinical genetica
Austria Medical genetics
Poland Genetyka kliniczna
Portugal Genética médica
Romania Genetica medicala
Slovenia Klinična genetika
Slovakia Lekárska genetica
Finland Perinnöllisyyslaäketiede / Medicinsk genetics
Sweden -
United Kingdom Clinical genetics

Associations and publications

The professional association for medical genetics in Germany was established in 1983 and merged with the German Society for Human Genetics (GfH) at the end of 2003 . In Germany, the Professional Association of German Human Genetics (BVDH) is the professional policy forum for all specialists in human genetics and human geneticists, in Switzerland the Swiss Society for Medical Genetics (SGMG) and in Austria the Austrian Society for Human Genetics (ÖGH). The joint publication of all four associations is the journal medical genetics .

The Network of Specialists in Medicine (nfm) represents the interests of the natural scientists working in medicine with different specializations such as human geneticists (GfH), clinical chemists and reproductive biologists.

The British Medical Association publishes the Journal of Medical Genetics .


In the basic classification (used in the Netherlands and in the joint library network ), the medical basic subject "Medical Genetics" has class 44.48.

See also


Web links

Wikibooks: Clinical Human Genetics  - Learning and Teaching Materials

Individual evidence

  1. Hans-Peter Kröner: Human Genetics. In: Werner E. Gerabek , Bernhard D. Haage, Gundolf Keil , Wolfgang Wegner (eds.): Enzyklopädie Medizingeschichte. de Gruyter, Berlin / New York 2005, ISBN 3-11-015714-4 , pp. 635-641; here: p. 635.
  2. Ute Felbor: The Institute for Hereditary Science and Race Research at the University of Würzburg 1937–1945. In: Würzburg medical history reports. Volume 11, 1993, pp. 155-173, here: p. 156.
  3. Hans-Peter Kröner: Human Genetics. 2005, p. 635 f.
  4. National Genome Research Network , dump of August 28, 2012: When the world pulls together: The Human Genome Project (HGP).
  5. Founder of medical genetics died. In: Spiegel Online . July 24, 2008.
  6. ^ Geneticists Mourn Loss of the Father of Genetic Medicine. 2008 ( Geneticists Mourn Loss of the 'Father of Genetic Medicine' - The American Society of Human Genetics Mourns the Death of Past President and Legendary Society Member, Dr. Victor A. McKusick ( Memento from August 28, 2008 in the Internet Archive ))
  7. Further training program from January 1, 1999. Central Board of the Association of Swiss Doctors (FMH), January 1, 1999, accredited by the Federal Department of Home Affairs , September 1, 2011 ( Specialist in Medical Genetics Training Program from January 1, 1999 (last Revision: September 6, 2007) ( Memento of May 24, 2012 in the Internet Archive ))
  8. Medical training regulations (ÄAO), Austria, 2006 (online)
  9. Further training regulations for doctors in Bavaria in the new version of October 1, 1993 in the version of October 13, 2002 (online)
  10. Further training regulations of the Berlin Medical Association , 2006 ( online ( memento of February 11, 2015 in the Internet Archive ); PDF; 854 kB)
  11. Berlin Medical Association, 2011 ( online ( memento from February 11, 2015 in the Internet Archive ); PDF; 854 kB)
  12. Regulation (EU) No. 213/2011 of the Commission of March 3, 2011 amending Annexes II and V of Directive 2005/36 / EC of the European Parliament and of the Council on the recognition of professional qualifications . In: Official Journal of the European Union . L 59, March 4, 2011, p. 4, see system for the recognition of professional qualifications
  13. ^ Network of specialists in medicine.
  14. Information from the GBV: 44.30 to 44.52 (basic medical subjects)