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Medical genetics is a field of medicine that studies the role of genetics in human disease. Geneticists may be physicians or scientists or a combination of both. Their work may be purely clinical and take place in regional hospitals, university medical centres or community clinics or it may also include clinical research and translational studies.

Medical genetics is an exciting, ever-evolving field with implications in all aspects of human disease. An understanding of medical genetics will impact on diverse issues including drug tolerances, treatment choices, reproduction, disease diagnoses and disease prevention.