The second half of the 20th century was the era in which fundamental questions regarding the genetic basis of biological function were addressed. The emerging discipline of molecular genetics harnessed the newly evolving technologies and the result has been the dawning of a genetic revolution which will lead to an understanding of how genes direct biology. The application of this science to the study of human genetics has resulted in an unprecedented growth in our understanding of the basic mechanism of disease and the basis of the new clinical field of molecular medicine.

The genetic basis of an exponentially increasing number of diseases is being identified and this will have a major impact for diagnosis, prognosis, and informed management of patients. Virtually all the major clinical disciplines will find molecular diagnosis to be increasingly necessary in modern clinical management. A challenge for the pathology services in this new era is to support molecular medicine to ensure that technical innovations and novel developments can be delivered as routine service in a timely, efficient, cost–effective manner, for the benefit of the maximum number of patients.