Medical genetics refers to the use of genetic information in the health care setting. This includes research efforts to understand the genetic basis of human illness. It also includes clinical services that use genetic knowledge to provide an assessment of risk for the occurrence of gene‐based disorders, determine an individual's actual genetic status, select treatments and put forth strategies for disease prevention. In Britain, medical genetics as an area of specialty arose out of the activities begun in three separate settings during the period from mid‐1940s through the 1960s: the Clinical Genetics Research Unit at the Institute of Child Health in London, the Paediatric Research Unit at Guy's Hospital in London and the Nuffield Unit of Medical Genetics at the University of Liverpool Medical School. The research programmes and clinical commitments of these separate units, along with the strong links connecting them, provided the foundation on which present‐day medical genetics is built and paved the way for the introduction of “genomic medicine” into twenty‐first century health care.
- Medical genetics, as an area of speciality, emerged late in the twentieth century in Britain largely through the efforts of physicians who, for the most part, had no formal training in genetics but who recognised its importance.
- Activities undertaken at three separate medical units, each emphasising different aspects of genetics (pedigree analysis, cytogenetics and genetic variation associated with common disorders), formed the foundation on which medical genetics, as an entity, developed.
- Medical genetics was able to grow and establish itself more widely because of the many different types of close interactions among the members of the three founding groups and the support received from existing medical institutions.
Keywords: blood group research; genetic counselling; cytogenetics; Rh disease; medical genetics; genomic medicine