Dissection of Complex Genetic Disease: Implications for Orthopaedics

The sequencing of the human genome is a landmark achievement in the history of mankind and, in conjunction with new developments in genetic technology, is paving the way to a new era in biomedical research. The complete anatomy of the human genome is almost available. Detailed dissection to identify genes contributing to clinical disorders is underway and these will shape our understanding and treatment of common clinical conditions. This already is beginning to make an impact in medicine in terms of understanding disease etiology, clinical heterogeneity, and differential diagnosis. Furthermore it is advancing risk prediction for susceptibility, severity and outcome, the identification of new targets for drug discovery, and pharmacogenetic profiling of patients to predict their response to individual therapies. Major advances in genetics are occurring and it is important for clinicians in all areas of medicine to be aware of genomic approaches to understanding human disease. This is particularly important regarding orthopaedic conditions where the underlying genetic components are being established. This article does not presume a detailed knowledge in genetics by the reader and is intended to provide an introduction and concise overview of the potential future applications of genetics with reference to some orthopaedic conditions.