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Genetic biomarkers and exercise-related injuries: current clinical applications?
  1. M P Schwellnus1,2
  1. 1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Newlands, Cape Town, South Africa
  2. 2International Olympic Committee (IOC) Research Center, Newlands, Cape Town, South Africa
  1. Correspondence to Professor Martin P Schwellnus, UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa, 3rd Floor, Sports Science Institute of South Africa, Boundary Road, Newlands, Cape Town 7700, South Africa; mschwell{at}iafrica.com

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Introduction

As a sport and exercise physician, my clinical work includes the prevention, diagnosis, treatment, rehabilitation and determining prognosis of exercise-related injuries (ERI). These components of clinical care are not only confined to dealing with ERI in elite athletes but also as important for recreational athletes and patients who are given an exercise prescription as part of a lifestyle intervention programme for the primary, secondary and tertiary prevention of the chronic disease of lifestyle.

For the clinician, the basis of any assessment of an ERI is a good clinical history and physical examination. In addition to this, the clinician can then decide to perform special investigations to confirm or refine a clinical diagnosis, identify risk factors related to injury, determine factors that may affect choices of treatment or determine factors that may affect prognosis. These special investigations can include imaging, a variety of functional tests (eg, muscle function, clinical biomechanical assessment) and blood tests for biochemical, haematological, hormonal and other biomarkers. Owing to the large number of possible special investigations, the clinician has a very important responsibility to choose special investigations on the basis that there is a clear indication to perform the test, tests are based on sound scientific evidence, and that the result will substantially alter clinical decision making to the benefit of the patient. Furthermore, the clinician has a responsibility to consider the cost of any special investigation.

As a clinician-scientist, I have had the privilege of being part of a team that started investigating possible genetic factors that may be associated with ERI's. The results of the first study were published more than 7 years ago, and used a candidate-gene approach in a gene-association design of a small number of patients presenting with symptoms of an Achilles tendon injury.1 Since then, additional genetic biomarkers that may be …

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