scholarly journals Can Genetic Testing Identify Talent for Sport?

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 972 ◽  
Author(s):  
Craig Pickering ◽  
John Kiely ◽  
Jozo Grgic ◽  
Alejandro Lucia ◽  
Juan Del Coso
Keyword(s):  
Genetic Testing ◽  
Genetic Variants ◽  
Genetic Information ◽  
Elite Athlete ◽  
Disease Prediction ◽  
Prediction Tool ◽  
Accurate Identification ◽  
Psychological Traits ◽  
Heritable Trait ◽  
And Training

Elite athlete status is a partially heritable trait, as are many of the underpinning physiological, anthropometrical, and psychological traits that contribute to elite performance. In recent years, our understanding of the specific genetic variants that contribute to these traits has grown, such that there is considerable interest in attempting to utilise genetic information as a tool to predict future elite athlete status. In this review, we explore the extent of the genetic influence on the making of a sporting champion and we describe issues which, at present, hamper the utility of genetic testing in identifying future elite performers. We build on this by exploring what further knowledge is required to enhance this process, including a reflection on the potential learnings from the use of genetics as a disease prediction tool. Finally, we discuss ways in which genetic information may hold utility within elite sport in the future, including guiding nutritional and training recommendations, and assisting in the prevention of injury. Whilst genetic testing has the potential to assist in the identification of future talented performers, genetic tests should be combined with other tools to obtain an accurate identification of those athletes predisposed to succeed in sport. The use of total genotype scores, composed of a high number of performance-enhancing polymorphisms, will likely be one of the best strategies in the utilisation of genetic information to identify talent in sport.

scholarly journals Can Genetic Testing Predict Talent? A Case Study of 5 Elite Athletes

2020 ◽  
pp. 1-6
Author(s):  
Craig Pickering ◽  
John Kiely
Keyword(s):  
Genetic Variants ◽  
Genetic Information ◽  
Elite Athlete ◽  
Elite Athletes ◽  
Track And Field ◽  
Endurance Athletes ◽  
Talent Identification ◽  
Genotype Score ◽  
Identification Tool

Purpose: The genetic influence on the attainment of elite athlete status is well established, with a number of polymorphisms found to be more common in elite athletes than in the general population. As such, there is considerable interest in understanding whether this information can be utilized to identify future elite athletes. Accordingly, the aim of this study was to compare the total genotype scores of 5 elite athletes to those of nonathletic controls, to subsequently determine whether genetic information could discriminate between these groups, and, finally, to suggest how these findings may inform debates relating to the potential for genotyping to be used as a talent-identification tool. Methods: The authors compared the total genotype scores for both endurance (68 genetic variants) and speed-power (48 genetic variants) elite athlete status of 5 elite track-and-field athletes, including an Olympic champion, to those of 503 White European nonathletic controls. Results: Using the speed-power total genotype score, the elite speed-power athletes scored higher than the elite endurance athletes; however, using this speed-power score, 68 nonathletic controls registered higher scores than the elite power athletes. Surprisingly, using the endurance total genotype score, the elite speed-power athletes again scored higher than the elite endurance athletes. Conclusions: These results suggest that genetic information is not capable of accurately discriminating between elite athletes and nonathletic controls, illustrating that the use of such information as a talent-identification tool is currently unwarranted and ineffective.

Neurologists rarely perform genetic testing for Parkinson's disease. Evidence suggests that many patients with major genetic variants go undiagnosed

2021 ◽  
Author(s):  
Moataz Dowaidar
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Testing ◽  
Genetic Variants ◽  
Genetic Information ◽  
Low Cost ◽  
Psychological States ◽  
Key Stakeholders ◽  
Practice Care ◽  
Testing And Counseling

This review addresses the past and current states of genetic testing for Parkinson's disease based on the available data. In short, neurologists rarely perform genetic testing for Parkinson's disease, and evidence suggests that many patients with major genetic variants go undiagnosed. For patients, caregivers, and families, we looked into the various clinical and personal applications of genetic information. Consumer interest and demand for genetic testing in general, and for Parkinson's disease in particular, is increasing. Furthermore, researchers now have a better understanding of the genetic phenotypes of Parkinson's disease; there is more access to free or low-cost genetic testing and counseling; and patients with specific PD genetic variants can now participate in interventional clinical trials. All of these developments highlight the importance of expanding genetic testing for Parkinson's disease. By addressing perceived barriers and providing practical information and resources, we hope to increase clinician comfort and confidence, allowing them to offer more PD genetic testing in their practices. We can provide tailored information specific to the patient by entering the realm of personalized medicine, which, as other specialties have done, may result in improvements in clinical practice, care, and outcomes. Expanding PD genetic testing, on the other hand, will necessitate the collaboration of a group of medical experts and key stakeholders, particularly genetic counselors, who are already experts at guiding patients through complex genetic information and, more importantly, in the context of their psychological states.

scholarly journals Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

2020 ◽  
Vol 11 (05) ◽  
pp. 755-763
Author(s):  
Shibani Kanungo ◽  
Jayne Barr ◽  
Parker Crutchfield ◽  
Casey Fealko ◽  
Neelkamal Soares
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Care Providers ◽  
Genetic Information ◽  
Ethical Issues ◽  
Interdisciplinary Approach ◽  
Care Providers ◽  
Ethical Considerations ◽  
Electronic Health ◽  
Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

Genetic Testing, Genetic Information, and the Role of Maternal-Child Health Nurses in Israel

2006 ◽  
Vol 38 (3) ◽  
pp. 219-224 ◽  
Author(s):  
Sivia Barnoy ◽  
Dorit Appel ◽  
Chava Peretz ◽  
Hana Meiraz ◽  
Mally Ehrenfeld
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Genetic Information ◽  
Maternal Child Health ◽  
Maternal Child

scholarly journals MYH9 Genetic Variants Associated With Glomerular Disease: What Is the Role for Genetic Testing?

2010 ◽  
Vol 30 (4) ◽  
pp. 409-417 ◽  
Author(s):  
Jeffrey B. Kopp ◽  
Cheryl A. Winkler ◽  
George W. Nelson
Keyword(s):  
Genetic Testing ◽  
Genetic Variants ◽  
Glomerular Disease

Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays

2021 ◽  
Vol 62 (1) ◽  
Author(s):  
Renee C. Geck ◽  
Gabriel Boyle ◽  
Clara J. Amorosi ◽  
Douglas M. Fowler ◽  
Maitreya J. Dunham
Keyword(s):  
Next Generation Sequencing ◽  
Functional Data ◽  
Genetic Variants ◽  
Genetic Information ◽  
Annual Review ◽  
Publication Date ◽  
Drug Selection ◽  
Functional Consequences ◽  
Pharmacology And Toxicology ◽  
Generation Sequencing

As costs of next-generation sequencing decrease, identification of genetic variants has far outpaced our ability to understand their functional consequences. This lack of understanding is a central challenge to a key promise of pharmacogenomics: using genetic information to guide drug selection and dosing. Recently developed multiplexed assays of variant effect enable experimental measurement of the function of thousands of variants simultaneously. Here, we describe multiplexed assays that have been performed on nearly 25,000 variants in eight key pharmacogenes ( ADRB2, CYP2C9, CYP2C19, NUDT15, SLCO1B1, TMPT, VKORC1, and the LDLR promoter), discuss advances in experimental design, and explore key challenges that must be overcome to maximize the utility of multiplexed functional data. Expected final online publication date for the Annual Review of Pharmacology and Toxicology, Volume 62 is January 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

scholarly journals Genetic discrimination: emerging ethical challenges in the context of advancing technology

2019 ◽  
Author(s):  
Carolyn Riley Chapman ◽  
Kripa Sanjay Mehta ◽  
Brendan Parent ◽  
Arthur L Caplan
Keyword(s):  
Health Insurance ◽  
Genetic Testing ◽  
Genetic Information ◽  
Predictive Power ◽  
The United States ◽  
Legal Framework ◽  
Genetic Discrimination ◽  
Ethical Challenges ◽  
Health Related ◽  
Discrimination In Employment

Abstract Genetic testing is becoming more widespread, and its capabilities and predictive power are growing. In this paper, we evaluate the ethical justifications for and strength of the US legal framework that aims to protect patients, research participants, and consumers from genetic discrimination in employment and health insurance settings in the context of advancing genetic technology. The Genetic Information Nondiscrimination Act (GINA) and other laws prohibit genetic and other health-related discrimination in the United States, but these laws have significant limitations, and some provisions are under threat. If accuracy and predictive power increase, specific instances of use of genetic information by employers may indeed become ethically justifiable; however, any changes to laws would need to be adopted cautiously, if at all, given that people have consented to genetic testing with the expectation that there would be no genetic discrimination in employment or health insurance settings. However, if our society values access to healthcare for both the healthy and the sick, we should uphold strict and broad prohibitions against genetic and health-related discrimination in the context of health insurance, including employer-based health insurance. This is an extremely important but often overlooked consideration in the current US debate on healthcare.

scholarly journals The fog of genetics: Known unknowns and unknown unknowns in the genetics of complex traits and diseases

2019 ◽  
Author(s):  
João Pedro de Magalhães ◽  
Jingwei Wang
Keyword(s):  
Genetic Variability ◽  
Genetic Variants ◽  
Genetic Information ◽  
Complex Traits ◽  
Drug Targets ◽  
Molecular Mechanisms ◽  
Genetic Associations ◽  
Missing Heritability ◽  
Genome Space ◽  
Known Unknowns

AbstractAssociating genetic variants with phenotypes is not only important to understand the underlying biology but also to identify potential drug targets for treating diseases. It is widely accepted that for most complex traits many associations remain to be discovered, the so-called “missing heritability.” Yet missing heritability can be estimated, it is a known unknown, and we argue is only a fraction of the unknowns in genetics. The majority of possible genetic variants in the genome space are either too rare to be detected or even entirely absent from populations, and therefore do not contribute to estimates of phenotypic or genetic variability. We call these unknown unknowns in genetics the “fog of genetics.” Using data from the 1000 Genomes Project we then show that larger genes with greater genetic diversity are more likely to be associated with human traits, demonstrating that genetic associations are biased towards particular types of genes and that the genetic information we are lacking about traits and diseases is potentially immense. Our results and model have multiple implications for how genetic variability is perceived to influence complex traits, provide insights on molecular mechanisms of disease and for drug discovery efforts based on genetic information.

Indications for genetic testing in athletes and its application in daily practice

2019 ◽  
pp. 166-176
Author(s):  
Andrea Mazzanti ◽  
Katherine Underwood ◽  
Silvia G. Priori
Keyword(s):  
Cardiovascular Disease ◽  
Genetic Testing ◽  
Genetic Information ◽  
Cardiac Death ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Daily Practice ◽  
Polymorphic Ventricular Tachycardia ◽  
Molecular Testing ◽  
Long Qt ◽  
Qt Syndrome

Genetic information is fundamental for the management of patients with primary arrhythmia syndromes (e.g. long QT syndrome or catecholaminergic polymorphic ventricular tachycardia) and cardiomyopathies (e.g. arrhythmogenic right ventricular cardiomyopathy or hypertrophic cardiomyopathy) which increase the risk of sudden cardiac death. Importantly, molecular testing can play a pivotal role in establishing a clinical diagnosis of an inherited cardiovascular disease, particularly when the phenotype in unclear and overlaps with the normal adaptations induced in the heart by chronic exercise. However, the decision to undergo genetic testing needs to be justified on a clinical basis and handled by professionals who are capable of framing the results in the correct perspective. In this chapter we will answer the following questions. When should genetic testing be performed in athletes? Which genetic tests should be requested for athletes? What impact should a positive genetic result have on sports eligibility?

Sign in / Sign up

Export Citation Format

Share Document