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The principle deeds of genetics in Israel consist of a wide array of disciplines including agriculture, nutrients, biotechnology, pharmacology and pharmacogenetics, pertaining to criminal as well as medical aspects. In the scope of this state of the art historical review, the authors emphasize the medical issues. The initial stimulus for genetic studies and medical awareness among the various ethnic populations in Israel was the immigration, in the early 1950s, of over a million Jewish immigrants from more than 100 countries from all continents. It was soon recognized that frequencies of genetic diseases differed markedly among the various communities, serving as a trigger for studying and managing these populations. In this state of the art historical review, particular emphasize was given to the historical events concerning genetics in the land of Israel, as well as in the state of Israel. Highlights of genetic diversity of the various ethnic and sub-populations are added, along with the advances and major achievements of the human genetics discipline in the state of Israel.

Genetic diseases are relatively prevalent among the Arab population, and are a significant cause of morbidity and mortality in this population. The relative high rate of genetic diseases among the Arabs in Israel is a direct result of very high rates of consanguinity. In order to reduce the frequency of congenital malformations/inherited diseases, it is important to choose combined strategies, including efforts focused on health education and health promotion, with an emphasis on the medical consequences of marriages within the family. Primary prevention is conducted by genetic counseling prior to marriage or prior to the first pregnancy and secondary prevention focuses on early genetic screening during the pregnancy. In order to provide the necessary tools for such a program, genetic research must first characterize the common genetic diseases in the small communities, and identify their responsible mutations.

About 5-10% of the most common cancers, such as breast, colon and melanoma, result from mutations in inherited predisposition genes. Recently some of these genes have been mapped or even cloned. These advances in cancer genetics have made more precise genetic counseling possible for cancer patients and their families. In our clinic for specific genetic counseling 180 families with a history of cancer were seen during a 10-month period. In counseling sessions, the family history was confirmed and interpreted, personal risk was estimated and the availability of molecular genetic testing was presented. Blood samples for DNA testing were drawn from those with certain criteria who wished to be tested. Instructions for early detection were also given, depending on the personal risk of cancer as compared to that of the general population.