ABSTRACT

Clinical genetics is a branch of medicine concerned with the diagnosis, testing, and management of diseases caused by changes in the human genome. A clinical geneticist should be able to communicate genetic information to family members so that they can understand the implications of having a genetic test, and make informed decisions for their clinical management. To use this effectively in the diagnostic setting, it is necessary to identify which gene requires analysis from the clinical phenotype. The clinical effects of mosaicism are determined not only by the genetic alteration but also by the tissue involved and the proportion of cells affected. The main clinical importance of somatic mosaicism is in the development of cancer. The case studies demonstrate the relationship between diagnostic pathology services and clinical genetics, how genetic testing techniques can be used in pathology, and how pathological findings can be important in management of patients in clinical genetics.