Applied Sport Science in Chaotic and Unconventional Settings: an Investigative Genomic Medicine Model as a Guide

"In the midst of chaos, there is also opportunity."

- Sun Tzu

Introduction

Sport science is a fascinating concept but is nuanced. By definition it’s the study of sport performance using scientific methodologies. Making sport science less a title, and in many cases more about one’s decision-making processes to help their athlete, group, or team succeed within a given set of constraints. This way of thinking can be dated back to ancient Greece where philosophers, coaches, and athletes began to study their respective sports to gain a competitive advantage. The curiosity that these individuals had in the applied setting then grew through empiricism, where experience and observations were the driving force behind different intervention strategies. Today sport science has a relationship with many disciplines such as exercise physiology, biomechanics, sport psychology, and biomedical engineering.

Now rooted in academia, controlled variables are manageable and outcomes can be correlated to interventions. The challenge is how to implement a given intervention amongst the chaos of your daily environment. Enter applied sport science, where evidence-informed practice blends with the experience, culture, resources, and performance priorities of all the stakeholders.

The chaos is amplified in team sport and even further in the tactical setting. These settings force the practitioner to have a refined decision-making process relative to the day-to-day confounds. Through experience in both, a direct relationship was observed between the scientific process and the Genomic Medicine Process Map (1). The key difference being the map is patient-centric while still being in pursuit of correlates and causality. The aim of this article is to provide insight into how this framework could be used in chaotic and unconventional settings to evolve applied sport science processes.

The Genomic Medicine Process Map

Delving deeper into the connection, investigative genomic medicine is a field that combines the principles of genomic science with medical research. It serves to better understand the genetic basis of various diseases, develop personalized treatments, and ultimately improve patient outcomes. This relates to sport and the tactical setting where we strive to understand the demands and implications of our tasks, develop interventions related to these or investigate them, and ultimately aim to fractionally influence the outcome.

Furthermore, practice and execution are collaborative; it involves the primary practitioner, supporting specialist(s), and patient(s). Biological and statistical principles are at play; there are foundational laws, concepts, and principles that can be observed quantitatively, qualitatively, or anecdotally. Resources can be a constraint; resource allocation and return-on-investment need to be considered. Lastly, theory is not always reality; intervention strategies and guidelines are not always valid, reliable, and actionable across a spectrum of populations and environments- similar to the scientific process, the objective is to increase reach and positively evolve (1,2,3).

At the large the process of genomic analysis involves three prominent actions; pre-sequencing, where necessary information is gathered and primary sampling is collected; sequencing, where assessment and comparison occurs; and post-sequencing, where potential associations are identified, correlated, and counselled (4,5,6). This is executed by completing the four stages summarized in the Genomic Medicine Process Map. Identified below are the four stages and with an explanation of how they relate practically to applied sport science and strength and conditioning (1).

Stage 1: Phenotypic Assessment and Generation of a Prior Risk for Genetic Disease

The patient initiates the process by bringing a concern directly to the primary practitioner or responding to a concern noted by the primary practitioner. A “phenotype first” approach leads to the practitioner using the information gathered to decide on next steps. If needed and warranted to involve the “specialist(s)” there must be indications that the knowledge and expertise is required, test selection and/or interpretation is out of the primary practitioner’s scope, and/or genetic counselling is necessary. Then if engaged, a cascade of more targeted actions ensues such as additional consultation, consent, and collection of medical documentation from further evaluations (1).

Applied Sport Science Application? Sport science embraces systems thinking. The stage is initiated by an individual up to an organization/institution seeking your support. Understanding the sport or tactical profession’s needs is a must. Dive into literature and internal project summaries, converse with all stakeholders, and leverage other sources of information. Immerse yourself to create a detailed needs analysis of the sport or job itself. Begin to understand the demands from a physiological and biomechanical perspective, noting other relevant considerations such as those injury-related and non-negotiables, equipment, schedule, and so on. The sport/job-oriented analysis then blends into the individual intake (Figure 1) or project pilot where through surface level inquiry an intervention or support strategy begins to form.

Figure 1: An outline of an individual intake encompassing the confounding variables that influence program outcomes. This can be used to make decisions surrounding support and add context to what should be measured.

Stage 2: Evaluation of the Clinical Utility of Genomic Testing

Upon other necessary opinions and further evaluation, the second stage involves determining the utility of the resources available. As part of the cascade of targeted actions, a system is in place to determine indications of certain assessments. The patient once informed of the available pathways is then able to decide what is best for them, which is influenced by their perception of assessment utility amongst other biopsychosocial and spiritual considerations. Appraisal of all factors is important with transparency needed from all parties. This provides evidence of medical necessity that determines eligibility and supports case-by-case decisions (1,2,6).

Applied Sport Science Application? The sport/job-oriented analysis was completed in the first stage and the second stage is completing an analysis that is athlete- or professional-centric. The sport/job-oriented analysis assists in determining what is important for the sake of resource allocation (e.g. performance technology procurement or maintenance, time allotment, key physical performance indicators [KPPIs], and so on). Whether working with an individual or group, this step underpins many intervention strategies by allowing you to better understand how the individual interacts with the host of demands placed upon them (sport/job vs. individual). Individually the data collected allows for objective measurement while all individual data points contribute to a greater normative data set.

Stage 3: Analysis and Interpretation of Genomic Variation

Come the third stage, the cascade of targeted actions continues. Sequencing, genotyping, variant filtering, and so on is conducted with comparison to various norms and criteria. Secondary assessments are completed if necessary. Upon the completion of the analysis, using the patient’s and normative values, criteria, and guidelines, an interpretation is finalized to support the diagnostic process. These same results are also added to a pool to contribute to phenotypic expansion- essentially the strength or number of characteristics correlated to a genetic disease.

Applied Sport Science Application? The first stage determines how the individual or greater subset could benefit from your available service delivery options. The second stage pursues the benefits by arming the practitioner(s) with data pertaining to the individual or project. The third stage is where the data is analyzed, interpreted, and can begin to be put to work. In collaboration with other subject matter experts and their findings, there has now been a sport/job, individual, and now comparative analysis. Depending on the problem(s) that initiated this process, the biological and statistical principles at play are used to determine what is to come in the fourth stage.

The novelty of sport science and modern strength and conditioning within tactical populations comes with limitations. Other chaotic team sport environments have low hanging fruit. Environment depending normative data may be lacking and/or intervention strategies are in their infancy. Considering clinimetrics value then shifts from statistical significance to what is statistically meaningful. Essentially, what is found to be significant? How does it impact measured outcomes? Sample size is improved over years of collection. Certain statistics such as Smallest Worthwhile Change (i.e. positive or negative significance), Coefficient of Variation (i.e. dispersion and relative risk), and Standard Error and/or Margin of Error (i.e. true interpretation) act as proxy measures to other methods that require larger sample sizes to determine confidence. Data then becomes ecologically valid and reliable when these measures are cross-examined with literature using similar intervention strategies with similar populations. As an additional byproduct, with respect for KPPIs, individual data points longitudinally get stronger and contribute to the greater norms being pooled. Making utilizing data immediately in decision making processes such as strength and conditioning programming (Figure 2) more efficient and effective.

Figure 2: An example of a dashboard that is interactive and formatted around what matters. This is typically paired with a programming outline covering off macro-to-micro details, including loading parameters and specific progressions for physical characteristics.

Stage 4: Genome-Informed Patient Management

With all parties (primary practitioner, specialists+, and patient) involved, the most favourable outcome is pursued. Through the calculation of probability alongside individual context such as signs and symptoms, a true or false negative or positive is concluded. If required follow-ups, monitoring, and/or any additional care is commonly facilitated by those involved to remove any uncertainty. This coordination is handled by those best suited (e.g. specialists for genetic counselling and familial testing, and the primary practitioner for long-term management).

Applied Sport Science Application? Putting the sport/job demands, individual profile, and comparison analysis all together, an intervention strategy or project summary can be finalized. Objective findings are filtered through subjectivity and priorities are set. The context provided from the sport/job-oriented analysis, individual assessment, and ecological comparative analysis fuel discussions with the individual or project stakeholders. A plan of action can then be determined including the intervention and follow-up strategies.

Military human performance provides us with a good example. There are highly variable demands, unpredictable schedules, and various environmental considerations. There is also limited literature surrounding the subtopics. Innovation is a necessity to manipulate what is textbook and good in theory into impactful program delivery or applied sport science project development. Personnel come seek subject matter experts for what they have to offer under their respective umbrella. Likewise, the SME should turn to them for their expertise doing “the job”. Together an aggregate outcome through the decision-making process formalizes sport science and/or strength and conditioning support by allowing scientific methodologies to infiltrate an unconventional setting. The result in this case could be changes in underpinning determinants that could influence job capacity, availability, and/or mission critical performance. Collectively, Figure 2 and 3 are an example demonstrating how an intervention strategy can be molded around what matters holistically.

Figure 3: Applied sport science model for individual support or project development summarizing what can be shapeshifted from investigative genomic medicine. The scientific process in action as a patient-centric system.

Summary

To be a sport scientist is a way of doing business not just an appointment. When compared to major professional sports, some environments may have a limited history with sport science and modern strength and conditioning interventions. This does not mean benefits are nil. This means a practitioner is required to be innovative with their toolbox and search for ways to expand their suite of services. A pursuit to contribute to your population’s specific performance outcome(s). To help with this pursuit, this article demonstrates a lifecycle of how support can look in an unconventional environment. With the help of the Genomic Medicine Process Map, the four stages outline why a sport-/job-oriented analysis, individual assessment, and aggregate intervention are important. When compared to norms to determine meaningfulness, and discussed with all key stakeholders to add context, human performance can then begin to be influenced by scientific methodology when scientific rigor is out of reach.

Alexander J. Morgan, MSc., CSCS, RSCC, CEP

References

Handra, J., Elbert, A., Gazzaz, N., et al. The practice of genomic medicine: a delineation of the process and its governing principles. Front. Med. 2022; 9. doi: 10.3389/fmed.2022.1071348

Shendure, J., Findlay, GM., Snyder, MW. Genomic medicine- progress, pitfalls, and promise. Cell. 2019; 177(1): 45-57. doi: 10.1016/j.cell.2019.02.003

Chong, JX., Berger, SI., Baxter, S., et al. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv. 2024. doi: 10.1101/2024.02.05.579012

Yilmaz, BG., Akgun-Dogan, O., Ozdemir, O., et al. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Front. Pediatr. 2024; 12. doi: 10.3389/fped.2024.1412880

Costain, G., Cohn, RD., Scherer, SW., Marshall, CR. Genome sequencing as a diagnostic test. CMAJ. 2021; 193(42): 1626-1629. doi: 10.1503/cmaj.210549

Niselle, A., King, E., Terrill, B., et al. Investigating genomic medicine practice and perceptions amoungst Australian non-genetics physicians to inform education and implementation. npj Genomic Medicine. 2023; 8(13). doi: 10.1038/s41525-023-00360-1

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