On the Globalization and Standardization of Medical Genetics and Genomics as Clinical and Laboratory Specialties

Hui Zhang, Peining Li


The evolving of medical genetics and genomics as a new specialty has been a major progress in the health care system during the past three decades. Since 2003, the completion of Human Genome Project has greatly speeded up the integration of genetics and genomics into mainstream clinical practice and thus demands more and more professionally trained medical genetics specialists. However, medical genetic training in different countries varies from well-organized professional system to lack of specialty recognition and shortage of specialists. These differences affect not only the quality of genetic services but also many related ethical, legal and social issues. To understand the current statues of medical genetics training in a global setting, we outline training systems from representative countries of North America, European Union, Latin American, Asia and Africa. The results demonstrate a trend toward formal recognition of medical genetics as a clinical specialty, diagnostic genetics as a laboratory specialty and genetic counseling as a Master level allied health profession. Systematic effort in training medical genetics specialists in developed countries has built up a workforce of one to seven clinical geneticists per million population. While in developing countries, lack of proper recognition and shortage of training programs are still the major obstacles for medical genetics. Considering the similar mutation rates and genetic disease burden on all human populations, globalization and standardization of medical genetics and genomics as clinical and laboratory specialties will contribute to better prevention and treatment of genetic diseases.


medical genetics and genomics, clinical genetics specialty, laboratory genetics specialty, genetic counselor, training systems

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