Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings. It comprises studying causes and mechanisms of pathogenesis of genetic disorders, clinical characterization of different types of these disorders and their modes of inheritance, study of diagnostic techniques used in their diagnosis and delineation of effective prophylactic and therapeutic measures resorted to in managing patients and carriers of these diseases. The wide spectrum of medical genetics includes six main fields: basic, clinical, diagnostic, prophylactic, therapeutic and applied genetics. The scopes of most of these fields are self-explanatory with few exceptions. Pathogenetics, a branch of basic genetics, implies the study of mutagens, mutations, pathogenetic mechanisms responsible for development of genetic diseases and anti-mutation mechanisms that protect the genome from the pathological consequences of these mechanisms. Formal genetics, another branch of basic genetics, is concerned with deducing and figuring out relevant genetic data from constructed figures that contain specific genetic information. These informative figures include, for instance, constructed family pedigrees, linkage maps and chromosomal maps. Applied genetics denotes use of knowledge of other fields of medical genetics in many significant applications like genetic counseling, fetal therapy and forensic genetics. Treatment of genetic disorders and prevention of their complications represent the main targets of therapeutic and prophylactic genetics, respectively. The importance of medical genetics resides in hopes of its ability to offer alleviating measures and curative therapies for disprevileged patients with genetic diseases and, more importantly, to succeed in achieving radical preventive approaches of these diseases. Mohammad Saad Zaghloul Salem, Medical Genetics: An Overview.
Last date updated on June, 2021