All clinicians are aware of the recent explosion of new genetic information.
The number of genetic disorders with a defined molecular cause continues to increase rapidly. In turn, the successes of gene mutation analysis are reflected in the marked proliferation of genetic screening and diagnostic assays, including carrier tests. Unanticipated dividends have also resulted from gene mutation analysis. The emergence of new genetic information provides unprecedented opportunities for practicing physicians to understand, diagnose, and treat genetic disorders, but much work needs to be done before medical genetic principles and genetic technology are fully integrated into clinical practice. Although a surfeit of information is available about many single gene disorders, our knowledge base is still limited in many areas of human genetics, including understanding of the pathogenesis of most genetic disorders.