*4.2.3 Genetic analysis: Genotype: Phenotype association studies using gene expression analysis*

In deoxyribonucleic acid variation, the constitution is related to a technique for analyzing organic phenomenon victimization the "reverse" approach. During this approach, by suggests that of polymer expression studies, heterogeneousness in athletic performance was known by polymer expression studies, resulting in the confirmation and identification of deoxyribonucleic acid variants physiologically. Relevant and in theory to extend applied math power. Recent advances in biotechnology have enabled larger discovery of the genetic underpinnings of elite action, resulting in the identification of single ester polymorphisms (SNPs) and different genetic variants that have the potential to influence athletic performance, directly or indirectly. As an example, it's been shown that Associate in Nursing SNP in ACTN3, R577X (rs1815739) modifies the attainment of elite speed-power jock standing two three.

Here within the transformation, ends up in the substitution of the bottom C to T common from the essential amino acid base (R) to Associate in Nursing early stop sequence (X). by ACTN3, αactinin3, expressed solely in fast-twitch muscle fibers, homozygous for the X factor lacking the cryptography macromolecule. Speed power performance, these genotypes might not be underrepresented within the elite speed power cohort thirty eight. On this subject, the primary study was performed by principle and colleagues. Within the athlete's body, genetic polymorphisms will be studied extensively. The αactinin3 (ACTN3) Arg(R)577Ter(X) (rs1815739) polymorphism helps muscle macromolecule expression. Zdisc. α actinin3 stabilizes the contracted equipment, which might offer superior force absorption/transmission compared to kind I fibers. This macromolecule conjointly helps promote the formation of kind II fibers. Indeed, sarcomeric αactinins bind to calsarcins, interacting with calcineurin, a signal issue that plays a job within the specification of the kind of muscle fiber40. Over a billion individuals worldwide ar unable to precise to precise their muscle fibers (i.e., they are homozygous for the R577X nullallele). Exaggerated activity within the aerobic aerobic pathway forty two. Additionally, ACTN3-type mice conjointly exhibited higher resistance to fatigue, ablated muscle mass and muscle cell diameter, speedy contractions (IIB), and ablated fatigue. Muscle strength compared to wild kind mice [34]. In humans, it is shown that Olympic finalists in "strength" or "sprint" events (jump, throw, run a hundred meters) seldom specific the XX "null" genotype of the ACTN3 R577X polymorphism. With few exceptions, these results are duplicatable in some thus, though it's usually calculable that it explains concerning one to three of the variance of the thirty six forty five forty six speed result constitution, ACTN3 then known as "speed" forty seven forty one forty eight. During this our ambition was to explore the result of ACTN3 polymorphisms on response to muscle injury in athletes taking part in ultra-endurance races.

#### *4.2.4 Technical aspects and shortcomings of genetic testing (GT)*

"whole genome sequencing" procedure helps to identify the base sequence of genome. This procedure also concerns complete range of coding and non-coding variants of human genome and rare variants. The reference sequence data can come from various dbSNP databases, which contain most of the SNPs estimated to be present in the human genome [35]. The final result of whole genome sequencing shows a list of genotypes in which at least one allele differs from the reference sequence [36]. This seems to work well with SNPs but structural variants (SV) do not change the copy number of the affected chromosomal region so it remains difficult for SVs and their association with complex traits. They found only 0.5–1% of the genome, at least 20% of all genetic variants in human and this play a part in phenotypic diversity between individuals. In genetic research A genome-wide association study (GWAS) is an approach to associate specific genetic variations with particular diseases, identifying statistical associations between genomic intervals and common complex traits without assumptions about the genomic location of the causal variants [37, 38]. In the field of exercise, for showing some findings [39] 21 of the 324,611 SNPs were identified, which accounted for 49% of the response to maximal oxygen uptake. To aerobic training. Compared with subjects with 9 or fewer SNPs, individuals showing at least 19 SNPs had a threefold increase in VO2max [34] identified three quantitative trait loci (QTL) for glucose and insulin metabolism phenotypes in response to endurance exercise training. Despite all the above aspects, "genetic performance tests", such as "GenEffect SPORT" (GenEffect, Falkendorf, Germany), are still for private use and seem to be widely used in the United States and Asia [40, 41]. These tests

*Genotypic Variation and Talent Identification in Sports DOI: http://dx.doi.org/10.5772/intechopen.100466*

confirmed that they provided exercise-based genetic screening with real information about genetically determined susceptibility. The company called "GenEffect" claims that ACTN3 genetic screening indicates whether athletes are suitable for sprinting, strength and strength sports (RR genotype), endurance sports (XX) or mixed mode sports (RX), but it is clear that the classification has never been made public [42]. Recently published data from Russian endurance athletes primarily carry the RR or RX genotype, rather than the hypothetical XX genotype used for endurance performance. Think of companies like this that have chosen genes of uncertain scientific value [41, 43] Weak explanation of sum variance [41, 44, 45], and data collected from top adult athletes may not be transferred to children [40]. It is reasonable to call these tests "ridiculous".

### *4.2.5 DTC (direct-to-consumer) tests*

Through the medical science community, Gene Science has evolved over the past decade at an unimaginable rate. Not only are genetic tests popular in clinical settings, they are also available to the general public. Over the days, the price will drop. Tests are also getting much cheaper. At first, whole genome sequencing cost around \$ 2.7 billion, now it costs less than \$ 1,000 and continues to drop by 61. Companies can offer genetic testing to the public on a commercial basis because it costs less to analyze specific variants of the genome. Any genetic test should be assessed against four key criteria: analytical validity, clinical validity, clinical utility, and ethical, legal and social implications.

Thirty companies (**Figure 1**) were identified as offering marketed DTP genetic tests related to sports or physical activities or injuries. Almost half of the companies identified are based in the United States. Not all companies engage in both DTC marketing and sales through their websites.

#### **Figure 1.**

*Number of companies providing direct-to-consumer (DTC) genetic testing worldwide as of 2016, by category. Data has been obtained by using the search terms "genetic", "test", "exercise" and "sport" "DTC" in two popular search engines (Google and Bing) [46] © Statista 2021.*

Despite the uncertainties in basic science, companies are beginning to commercialize genetic tests to predict athletic performance and athletes, parents, coaches and sports teams are starting to use them. Various companies and startups market genetic tests that claim to provide important information about future sports success (**Figure 2**).

In this test Genes included including. Some tests primarily focus on specific characteristics (soft tissue injuries), but most are often marketed as the result of "athletic performance" or some similar general performance characteristic. Alphaactinin3 (ACTN3) gene assay from Genetic Technologies Corp. patented in the United States (US 7,615,342 B2; issued November 10, 2009). The patent describes a specific genetic variation of the ACTN3 gene related to sports performance, and specifically describes that genetic information from this unique gene can be input into other performance tests when using talent selection programs. Consumers who purchase any of the testes shown in **Figure 3** receive individual results for all of the genes tested along with their descriptions and explanations of success in different types of sports, such as endurance or strength.

Consumers World Health Organization purchase any of the testicles delineated in **Figure 3** can receive personal results for all tested genes, yet as descriptions and explanations of their success in numerous sorts of exercise (such as endurance or strength). In some cases, firms additionally sell materials to live alternative physical or performance characteristics to be used in conjunction with genetic testing. The corporate has selected genes from the scientific literature as a part of the genetic testing kit, however as mentioned on top of, the lustiness of basic science is sometimes unsure. As an example, ACTN3 R577X tests for hollow polymorphism are obtained from completely different firms for many years66. Solely fourteen of the start known twenty two firms seem to still operate commercially, which implies that eight apparently have ceased operations, and twenty five new firms have emerged


#### **Figure 2.**

*Companies providing sports-related DNA tests direct-to-consumer (DTC) for sport performance or related traits. Wagner, J. K., & Royal, C. D. [47].*

*Genotypic Variation and Talent Identification in Sports DOI: http://dx.doi.org/10.5772/intechopen.100466*


#### **Figure 3.**

*Examples of companies selling direct-to-consumer (DTC) genetic tests for sport performance or related traits. Genetic test prices range from approximately US\$80–200 across these different tests. Wagner, J. K., & Royal, C. D. [47].*

within the past 2 years. Many firms use the results of their customers' genetic tests as opportunities to supply alternative aspects of their business activities, however need further fees, like coaching recommendation, particularly biological process supplements. There's an agreement within the medical profession that genetic testing will solely be meted out once the relevant personnel have free and consent. This info will solely be provided if the patient has obtained adequate info regarding genetic testing (such because the risks, benefits, limitations, and effects of genetic testing with long-run or indirect effects).

### **5. Inexpediency to use genetic information for talent identification**

Identifying talent for future athletic performance is a major concern for many groups due to the challenges of finding and developing potential elite athletes. Since genetic factors are associated with many performance-related traits (strength, endurance, etc.), the natural tendency is to consider adding genetic testing to the capacity of asset identification programs. Genetic testing may positively inform talent identification is less certain. The application of genetic testing for health related purposes is becoming a popular topic in the field of medical sciences. In sports, athletes and coaches often focus on conflicting nutrition and training strategies to develop training performance. For this reason, athletes and coaches may risk the allure of direct genetic testing believing that their results will help improve performance. Giving inaccurate or unreliable advice can be harmful to the health of athletes. Other studies have consistently supported the view that the ACE and ACTN3 genotypes influence human performance compared to sprint / strength or endurance events. A systematic review and meta-analysis concluded that there is strong evidence for an association between the ACE II genotype and endurance events and between the ACTN3R allele and force events. Although there is a correlation between several genes and elite athletic performance, there is no scientific evidence for the predictive value of genetic profiles in athletic performance. Genetic profile testing alone currently cannot reliably predict athletic performance3 Most sports have a combination of sprint/strength and endurance components along with many other

factors including many genetic, physical factors. Environmental and psychological. Genetic quality is just one of many factors that contribute to success in sports.

The Australian Law Reform Commission and the NHMRC, in their 2003 report Basically Yours, recommended that "discrimination laws be amended to explicitly prohibit unlawful discrimination based on status a person's actual or perceived genetics". This type of discrimination is addressed in the anti-discrimination laws of the Commonwealth, states and territories. Potentially, any of the grounds or provisions listed in Australian anti-discrimination law could involve discrimination on the basis of genetic status. Extending this premise to sport indicates that knowledge of an athlete's genetic makeup cannot be used to preclude the selection of that sport for a particular program or team. It is also unethical to use genetic testing for affirmative action.

Several commercial organizations now make "predictions" of athletic ability using direct-to-consumer genetic testing. Direct-to-consumer testing provides genetic performance analysis related to athletic achievement and athletic talent primarily based on ACE and ACTN3. However, each company differs in the additional genes tested as part of a commercial trial. There are several cases involving the effects of genetic testing on individual athletes using direct-consumer testing, especially when it involves children. Sports activities. Inappropriate advice can, in turn, adversely affect an individual's physical or psychological well-being. In a review, which uses genetic analysis to identify talent.

Current genetic testing is not predictive for identifying talent and should not be used by sports organizations, athletes, coaches or parents using 'Using the genetic phenotype as an absolute predictor of sport'. Sport selection is unscientific and unethical.

Tests of this type in young athletes are particularly problematic because they can be misinterpreted and restrict children's choices about potential activities. Given the multifactorial nature of human athletic performance, the information obtained from genetic testing should never be used for inclusion or exclusion in identifying talent.

So we have finally reached the point that genomics is a growing field in all branches of health including exercise and sports medicine. Advances in technology and cost reductions have made genetic research and genetic testing more accessible to many sports organizations and individuals. AIS is committed to keeping abreast of the latest scientific and technological developments without compromising the integrity of the sport. The AIS will maintain a clear and unchallenged focus on the safety and well-being of the athletes. This position statement explains the ethical framework within which genetic testing and genetic research will be carried out in Australian sport. The Australian Institute of Sports position for genetic research and testing for genetic testing of Australian athletes for health purposes will be ordered by a doctor. Genetic testing will be requested for healthrelated purposes along with genetic counseling. If people choose to undergo direct-to-consumer genetic testing, they should be prevented from following the recommendations of commercial companies without asking a doctor for clarification. As part of the research project, genetic testing will only be performed with the knowledge and written consent of the participants. Will clearly explain to athletes the purpose of using genetic information. Participants in genetic research will be informed of the possibility of unintentional discoveries, which may have a potential impact on the health of the participants or the health of their family members. Athletes have the right to refuse genetic testing. Athletes who refuse genetic testing will not be discriminated against. Before participating in the research, the management and confidentiality of genetic test results will be clearly communicated to athletes.
