4.6 Article

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

Journal

BRITISH JOURNAL OF SPORTS MEDICINE
Volume 49, Issue 23, Pages 1486-1491

Publisher

BMJ PUBLISHING GROUP
DOI: 10.1136/bjsports-2015-095343

Keywords

-

Categories

Funding

  1. Wellcome Trust [096599] Funding Source: Medline

Ask authors/readers for more resources

The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.6
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Article Orthopedics

Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status

Mark R. Antrobus, Jon Brazier, Peter Callus, Adam J. Herbert, Georgina K. Stebbings, Stephen H. Day, Liam P. Kilduff, Mark A. Bennett, Robert M. Erskine, Stuart M. Raleigh, Malcolm Collins, Yannis P. Pitsiladis, Shane M. Heffernan, Alun G. Williams

Summary: This study investigated the association between elite rugby athlete status and concussion-associated risk polymorphisms. The findings showed that there were differences in the COMT rs4680 genotype, which could potentially affect stress resilience, behavioral traits, concussion risk, and recovery in elite rugby athletes. Evaluating the COMT rs4680 genotype may be beneficial for individualized management of concussion risk among athletes.

CLINICAL JOURNAL OF SPORT MEDICINE (2023)

Article Ethics

Equipoise, standard of care and consent: responding to the authorisation of new COVID-19 treatments in randomised controlled trials

Soren Holm, Jonathan Lewis, Rafael Dal-Re

Summary: In response to the COVID-19 pandemic, research and pharmaceutical regulatory processes have accelerated, leading to the rapid introduction of effective COVID-19 interventions. However, this has also brought about more complex ethical issues. This paper discusses the ethical implications of authorizing and using the antiviral medicine molnupiravir in clinical trials.

JOURNAL OF MEDICAL ETHICS (2023)

Article Sport Sciences

Effect of individual characteristics and aerobic training on the %HRR-%V?O2R relationship

Carlo Ferri Marini, Davide Sisti, James S. Skinner, Mark A. Sarzynski, Claude Bouchard, Stefano Amatori, Marco B. L. Rocchi, Giovanni Piccoli, Vilberto Stocchi, Ario Federici, Francesco Lucertini

Summary: This study aimed to assess if considering individual characteristics can make the relationship between heart rate and oxygen uptake reserve during incremental exercise more accurate. The study found that regardless of individual characteristics, the relationship between the percentage of heart rate reserve and oxygen uptake reserve differed from the identity line, and the difference increased after aerobic training.

EUROPEAN JOURNAL OF SPORT SCIENCE (2023)

Editorial Material Sport Sciences

'Heading' in the right direction: concussions reported at the Tokyo 2020 Paralympic Games

Phoebe Runciman, Cheri Blauwet, James Kissick, Jan Lexell, Martin Schwellnus, Nick Webborn, Wayne Derman

BRITISH JOURNAL OF SPORTS MEDICINE (2023)

Editorial Material Sport Sciences

Infographic. Prehospital management of exertional heat stroke at sports competitions for Paralympic athletes

Victoria L. Goosey-Tolfrey, Yuri Hosokawa, Nick Webborn, Cheri Blauwet, Paolo Emilio Adami

BRITISH JOURNAL OF SPORTS MEDICINE (2023)

Article Sport Sciences

Application of an in silico approach identifies a genetic locus within ITGB2, and its interactions with HSPG2 and FGF9, to be associated with anterior cruciate ligament rupture risk

Senanile B. Dlamini, Colleen J. Saunders, Mary-Jessica N. Laguette, Andrea Gibbon, Junaid Gamieldien, Malcolm Collins, Alison V. September

Summary: We developed a Biomedical Knowledge Graph model that integrates knowledge from multiple domains in a graph database to identify potential new risk genes for anterior cruciate ligament (ACL) ruptures and Achilles tendinopathy (AT). Through a case-control study, we found that the ITGB2 gene is associated with ACL rupture risk. This study highlights the efficiency of using prior knowledge-driven in silico approach and recommends a multistep approach for genomics technologies in musculoskeletal soft tissue injuries.

EUROPEAN JOURNAL OF SPORT SCIENCE (2023)

Article Nutrition & Dietetics

Identification and Characterization of Genomic Predictors of Sarcopenia and Sarcopenic Obesity Using UK Biobank Data

Ekaterina A. Semenova, Erinija Pranckeviciene, Elvira A. Bondareva, Leysan J. Gabdrakhmanova, Ildus I. Ahmetov

Summary: The decline in muscle mass, strength and gait speed is a sign of severe sarcopenia, which may have genetic risk factors. By combining genome-wide association studies of handgrip strength, lean mass, and walking pace, researchers have identified 78 independent SNPs associated with all three traits. These SNPs are also associated with body fat percentage and type 2 diabetes, indicating common risk alleles. Furthermore, bioinformatic analysis revealed the associations between sarcopenia risk alleles and various lifestyle factors and health outcomes. The findings highlight the genetic basis of sarcopenia and its relationship with obesity and other health conditions.

NUTRIENTS (2023)

Editorial Material Ethics

What should recognition entail? Responding to the reification of autonomy and vulnerability in medical research

Jonathan Lewis, Soren Holm

JOURNAL OF MEDICAL ETHICS (2023)

Article Ethics

Sport-related concussion research agenda beyond medical science: culture, ethics, science, policy

Mike McNamee, Lynley C. Anderson, Pascal Borry, Silvia Camporesi, Wayne Derman, Soren Holm, Taryn Rebecca Knox, Bert Leuridan, Sigmund Loland, Francisco Javier Lopez Frias, Ludovica Lorusso, Dominic Malcolm, David McArdle, Brad Partridge, Thomas Schramme, Mike Weed

Summary: This study aims to provide a multidisciplinary analysis of the ethical problems and deficiencies in scientific research and clinical guidance in sport-related concussion movement, including age, disability, gender, and race. It also highlights conflicts of interest, narrow methodological control, and insufficient athlete engagement in research and policy development. The authors argue that the sport and exercise medicine community should broaden its research and practice focus to better understand these issues and provide improved care for brain-injured athletes.

JOURNAL OF MEDICAL ETHICS (2023)

Article Sport Sciences

Variability in Running Economy of Kenyan World-Class and European Amateur Male Runners with Advanced Footwear Running Technology: Experimental and Meta-analysis Results

Melanie Knopp, Borja Muniz-Pardos, Henning Wackerhage, Martin Schoenfelder, Fergus Guppy, Yannis Pitsiladis, Daniel Ruiz

Summary: This study compares the running economy of world-class Kenyan runners and European amateur runners wearing advanced footwear technology and traditional racing flats on a laboratory treadmill. The results show a significant medium benefit of advanced footwear technology on running economy compared with traditional flats. However, there is large variability in performance among different athletes, indicating the need for further research to understand the cause of these differences.

SPORTS MEDICINE (2023)

Article Genetics & Heredity

Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses

Berkay Demirci, Celal Bulgay, Halil Ibrahim Ceylan, Mehmet Ertugrul Ozturk, Deniz Ozturk, Hasan Huseyin Kazan, Mehmet Ali Ergun, Mesut Cerit, Ekaterina A. Semenova, Andrey K. Larin, Edward V. Generozov, Ildus I. Ahmetov, Ladislav Cepicka

Summary: This study aimed to investigate the impact of ACTN3 rs1815739 polymorphism on physical performance in basketball players and compared it with non-athletes. The study found that the frequency of ACTN3 rs1815739 XX genotype was significantly lower in basketball players, indicating that RR/RX genotypes were more favorable for playing basketball. Additionally, significant changes in Yo-Yo IRT 2 performance tests were only observed in basketball players with the RR genotype. In conclusion, carriers of the ACTN3 rs1815739 R allele may have an advantage in basketball.

GENES (2023)

Article Genetics & Heredity

Exome-Wide Association Study of Competitive Performance in Elite Athletes

Celal Bulgay, Anil Kasakolu, Hasan Hueseyin Kazan, Raluca Mijaica, Erdal Zorba, Onur Akman, Isik Bayraktar, Ridvan Ekmekci, Seyrani Koncagul, Korkut Ulucan, Ekaterina A. Semenova, Andrey K. Larin, Nikolay A. Kulemin, Edward V. Generozov, Lorand Balint, Georgian Badicu, Ildus I. Ahmetov, Mehmet Ali Ergun

Summary: The aim of this study was to identify genetic variants associated with personal best scores in Turkish track and field athletes using whole-exome sequencing. Although no significant associations were found in the genotype-phenotype and case-control studies of Turkish athletes, four functional variants were replicated and shown to be associated with various exercise- and sport-related phenotypes.

GENES (2023)

Article Biology

Diversity and Differential Expression of MicroRNAs in the Human Skeletal Muscle with Distinct Fiber Type Composition

Andrey V. Zhelankin, Liliia N. Iulmetova, Ildus I. Ahmetov, Eduard V. Generozov, Elena I. Sharova

Summary: This study investigated the contribution of microRNA (miRNA) in skeletal muscle fiber type composition. Biopsy samples of the vastus lateralis muscle were obtained from 24 male participants with distinct fiber type ratios. Results showed different expression of genes and miRNAs between groups with predominance of fast- and slow-twitch muscle fibers. Strong correlations were found between miRNAs and their host genes, as well as negative correlations between miRNAs and mRNA targets.

LIFE-BASEL (2023)

Article Sport Sciences

The PPARGC1A Gly482Ser polymorphism is associated with elite long-distance running performance

Elliott C. R. Hall, Sarah J. J. Lockey, Shane M. M. Heffernan, Adam J. J. Herbert, Georgina K. K. Stebbings, Stephen H. H. Day, Malcolm Collins, Yannis P. P. Pitsiladis, Robert M. M. Erskine, Alun G. G. Williams

Summary: Success in long-distance running is influenced by factors such as oxygen utilization, lactate metabolism, and genetic associations. The Gly allele of the PPARGC1A Gly482Ser rs8192678 polymorphism has been linked to endurance athlete status and favorable adaptations to aerobic training. This study examined the association of rs8192678 with elite status and performance among long-distance runners. The results showed that athletes carrying the Ser allele had a 2.5% faster performance compared to Gly/Gly homozygotes.

JOURNAL OF SPORTS SCIENCES (2023)

No Data Available