Field of Genes: An Investigation of Sports-Related Genetic Testing

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Abstract

Sports-related genetic testing is a sector of the diverse direct-to-consumer (DTC) industry that has not yet been examined thoroughly by academic scholars. A systematic search was used to identify companies in this sector and content analysis of online information was performed. More than a dozen companies were identified. Marketing practices observed generally did not target parents for child testing, and marketing images were mild compared to images used in popular media. Information was provided at a high reading level (industry-wide Flesh-Kincaid Grade Levels > 11). While ~75% of companies provide privacy policies and terms of service prior to purchase and ~40% provide scientific citations for their tests, <25% reported using American Association of Blood Banks (AABB) accredited or the Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified laboratories. Tests ranged considerably in price (~$100–$1,100) and were substantively diverse. These findings highlight the need to appreciate nuances and avoid broad generalizations of this and other DTC sectors. Utilization of consumer protections available for e-commerce generally may adequately protect DTC genetics consumers without new federal legislation or regulation.

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ACTN3 genotype is associated with human elite athletic performance.

Nan Yang, Daniel MacArthur, Jason P Gulbin … (2003)

There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently demonstrated that the skeletal-muscle actin-binding protein alpha-actinin-3 is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X. alpha-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force at high velocity. The absence of a disease phenotype secondary to alpha-actinin-3 deficiency is likely due to compensation by the homologous protein, alpha-actinin-2. However, the high degree of evolutionary conservation of ACTN3 suggests function(s) independent of ACTN2. Here, we demonstrate highly significant associations between ACTN3 genotype and athletic performance. Both male and female elite sprint athletes have significantly higher frequencies of the 577R allele than do controls. This suggests that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance. There is also a genotype effect in female sprint and endurance athletes, with higher than expected numbers of 577RX heterozygotes among sprint athletes and lower than expected numbers among endurance athletes. The lack of a similar effect in males suggests that the ACTN3 genotype affects athletic performance differently in males and females. The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection.

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Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers.

Christina R. Lachance, Lori A H Erby, Kimberly Kaphingst … (2010)

As direct-to-consumer genetic testing becomes more available, a diverse group of consumers, including those with limited health literacy, may consider testing. In light of concerns raised about direct-to-consumer genetic testing, this study sought to critically examine whether the informational content, literacy demands, and usability of health-related direct-to-consumer websites met existing recommendations. A content analysis was performed on 29 health-related direct-to-consumer websites. Two coders independently evaluated each website for informational content (e.g., benefits, limitations), literacy demands (e.g., reading level), and usability (e.g., ease of navigation). Most sites presented health conditions and some markers for which they tested, benefits of testing, a description of the testing process, and their privacy policy. Fewer cited scientific literature, explained test limitations, or provided an opportunity to consult a health professional. Key informational content was difficult to locate on most sites. Few sites gave sample disease risk estimates or used common language and explained technical terms consistently. Average reading level was grade 15. The quality of informational content, literacy demands, and usability across health-related direct-to-consumer websites varied widely. Many users would struggle to find and understand the important information. For consumers to better understand the content on these sites and evaluate the meaning of the tests for their health, sites should lower the demands placed on users by distilling and prioritizing the key informational content while simultaneously attending to the reading level and usability elements. In the absence of regulation compelling such changes, government agencies or professional organizations may need to increase consumer and provider awareness of these issues.

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The regulation of direct-to-consumer genetic tests.

Jane Kaye (2008)

The past year has been marked by the emergence of several companies, such as 23andMe, deCODEME, Navigenics and Knome, offering tests using genome-wide technology direct to consumers over the internet. On the basis of the published research findings of GWAS and other studies, these companies will calculate an individual's risk to a number of common diseases, without the necessity of going through a medical practitioner. One of the significant challenges of direct-to-consumer testing is that it shifts the control of genetic testing from the clinical domain and medical professionals into the hands of consumers. No longer is genetic testing being carried out solely for medical reasons, by specialists in clinical genetics. Testing is now being used to empower consumers and can be used 'to shed new light on your distant ancestors, your close family and most of all, yourself' (23andMe). Such information can be shared with family and friends for 'fun', as part of the new 'recreational genomics'. Direct-to-consumer testing challenges many of the assumptions that underpin current practice surrounding genetic tests while at the same time exposing the deficiencies in the current regulatory frameworks to regulate this area. The purpose of this paper is to explore some of these issues, at a time when the science and the law are changing rapidly.

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Author and article information

Journal

Journal ID (nlm-ta): J Pers Med

Journal ID (iso-abbrev): J Pers Med

Journal ID (publisher-id): jpm

Title: Journal of Personalized Medicine

Publisher: MDPI

ISSN (Electronic): 2075-4426

Publication date (Electronic): 12 September 2012

Publication date Collection: September 2012

Volume: 2

Issue: 3

Pages: 119-137

Affiliations

[1 ]Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, 1112 Penn Tower, 399 S. 34th St., Philadelphia, PA 19104, USA

[2 ]Duke Institute for Genome Sciences & Policy, Duke University, 304 Research Drive, Box 90141, Durham, NC 27708, USA; E-Mail: charmaine.royal@ 123456duke.edu

Author notes

[* ] Author to whom correspondence should be addressed; E-Mail: jennifer.wagner@ 123456uphs.upenn.edu ; Tel.: +1-215-614-0689; Fax: +1-215-614-0298.

Article

Publisher ID: jpm-02-00119

DOI: 10.3390/jpm2030119

PMC ID: 4251368

SO-VID: 085e8c35-08c6-4bf4-a916-980ca6dac3fb

License:

This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license ( http://creativecommons.org/licenses/by/3.0/).

History

Date received : 30 July 2012

Date revision received : 22 August 2012

Date accepted : 28 August 2012

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Field of Genes: An Investigation of Sports-Related Genetic Testing

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Genes & Diseases

Most cited references 63

ACTN3 genotype is associated with human elite athletic performance.

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers.

The regulation of direct-to-consumer genetic tests.

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