What's hot in genetics? A clinical and scientific update of human clinical genetics.

Advances in genetics influence much of clinical medicine today. Such also impinge on society more generally, in fields as diverse as issues relating to genetically-modified foods and those relating to the DNA-identification of disaster victims. Genetics as a discipline dates from the rediscovery (in 1900) of Gregor Mendel's findings that physical characteristics are due to "hereditary particles" - a word renamed "genes" in 1909 by the Danish biologist, Wilhelm Johannsen (1857-1927). This paper is a state-of-the-art update of three themes which are pivotal to modern clinical genetics - DNA diagnosis, cytogenetics and genetic counselling. Australian DNA laboratories collaborate in providing (2005) a diagnostic service for more than 400 monogenetic (single gene) diseases. Cytogenetics is today an elegant and technically beautiful science. Its techniques can identify individual genes and DNA sequences visually on each of the 46 chromosomes. FISH probes, using the technique of Fluorescent Insitu Hybridisation, are used extensively both in pre-natal diagnosis and in the diagnosis of leukaemias and related cancers; and in the monitoring of and management of their clinical progression. Genetic testing, although available in elegant and sophisticated form, is never a trivial matter. Results from these powerful and fundamental diagnostic techniques both influence and modify the lives not only individuals but the extended kindreds of which they are members. Genetic counselling first began in Queensland in 1959; and Genetic Clinics were established by the author at the Royal Women's Hospital and the Royal Children's Hospital in Brisbane in 1974. Genetic counselling empowers individuals at genetic risk to maintain control of their lives. Pre-test counselling is essential before any DNA or cytogenetic tests are conducted