title: Sports genetics moving forward: lessons learned from medical research.
abstract: Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.
authors.affiliation: Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California; Åstrand Laboratory of Work Physiology, The Swedish School of Sport and Health Sciences, Stockholm, Sweden; mikaelm@stanford.edu.
authors.forename: C Mikael
authors.identifier: http://orcid.org/0000-0002-0642-4838
authors.initials: CM
authors.lastname: Mattsson
authors.affiliation: Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University, Stanford, California;
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Wheeler
authors.affiliation: Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University, Stanford, California;
authors.forename: Daryl
authors.initials: D
authors.lastname: Waggott
authors.affiliation: Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University, Stanford, California; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California; and.
authors.forename: Colleen
authors.initials: C
authors.lastname: Caleshu
authors.affiliation: Division of Cardiovascular Medicine, Department of Medicine, Stanford University, Stanford, California; Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University, Stanford, California; Department of Genetics, Stanford University, Stanford, California.
authors.forename: Euan A
authors.initials: EA
authors.lastname: Ashley
mesh_terms: D000222:Adaptation, Physiological; D054874:Athletic Performance; D035843:Biomedical Research; D004194:Disease; D023281:Genomics / Q000379:methods*; D006262:Health; D006801:Humans; D013177:Sports
keywords: genetic testing; individual differences; precision medicine; sports genetics; sports medicine