The Specialty Clinical Genetics is a medical specialty concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms and with risk estimation and genetic counselling of family members. Clinical geneticists need a wide range of clinical skills since genetic disorders can effect people of all ages and all body systems. Communication skills are particularly important in transmitting complex concepts and test results to families to enable them to choose appropriate options. Clinical geneticists generally work in multi-disciplinary regional genetics centres, along with scientists, genetic associates and academic colleagues. There is an extensive network of district clinics to give free access to the service.
Clinical work is mostly outpatient based but ward referrals are also seen.
Some clinical genetics units organise an on call rota, particularly for the diagnosis of neonates with abnormalities, where a diagnosis may alter therapeutic intervention. Because of the implications of a genetic diagnosis for family members, clinical practice is different from the usual hospital based medicine where the ill patient is the sole user of the medical services. The specialty of clinical genetics is constantly changing and the clinical geneticist must be able to alter practice to take account of new findings and also to be an information resource for other medical specialties. Clinical geneticists also play their part in public education as well as providing advice for professional colleagues, NHS purchasers and others. The excitement of the specialty lies in the clinician understanding the evolving human gene map and rapid technological advances, and then using these together with clinical skills and knowledge of inheritance and genetic mechanisms for the benefit of patients and families.