Clinical geneticists are medical doctors with specialist training in genetics (the study of inherited conditions), and a background in paediatrics (the branch of medicine specialising in children’s diseases) or another discipline. Counselling and ethics are important elements in their professional training.
They are experts in the genetic origins of cancer, birth defects, neurological problems, cystic fibrosis, muscular dystrophy and other conditions that can be inherited.
Clinical geneticists are able to diagnose genetic disorders, investigate them and assess risks to family members. Some counsel families directly and others work with genetic counsellors. Clinical geneticists provide information about disorders and their genetic background, and talk to families about the risk of developing disorders or passing them on to children. Clinical geneticists also provide follow-up and support.