Genetic diagnosis improves rehabilitative therapies

Genetic diagnosis is important for an accurate prognostic medical management and assessment of potentially beneficial pharmacologic, mechanical and genetic interventions. Genetic counseling, family screening and genetic testing in families with different genetic conditions are new tools in actual medicine. Clinicians have to learn how to integrate this new knowledge into diagnostic and treatment protocols in order to improve the therapeutical plan of the patients. Clinical information, including the medical and family history and the findings of the physical examination, is vital for the selection of appropriate diagnostic tests, as well as the interpretation of the results. There is a specific impact of genetic testing on the medical management of the individual and the family. An important group of genetic tests are relevant to rehabilitative therapies: genomic studies of muscle, bone, connective tissue and other aspects of musculoskeletal function, studies of mitochondrial genetics and metabolic activity, studies of specific neurological genes that have allelic variation in the general population and may play a role in regeneration, plasticity or other neurological processes, genes that influence exercise capacity, cardiovascular function, activity-mediated processes and compliance with physical therapies in rehabilitative settings, studies of allelic variation in genes of the immune system that have relevance to understanding differences in inflammatory reactions or other neuroimmune processes relevant to rehabilitation and long-term recovery etc. The specialist must address numerous issues affecting the patient, including mobility, occupational concerns, comorbidities, psychosocial issues, family support and financial concerns. Rehabilitation is a team effort and includes many specialists: physicians, orthopaedic surgeons, neurologists, nurses, physical therapists, occupational therapists, speech therapists, social workers, psychologists and, of course, geneticists. The primary role of the geneticist in this process is to define etiology, if possible, and to provide counseling and contribute to case management based on the results of genetic investigations.