Do you have the genes to be an Olympian?

Ever thought what it would be like to train or perform  like an Olympic athlete?  Having read The Sports Gene:  http://thesportsgene.com/ by David Epstein and listened to recent podcasts by Mark Sission of Mark’s Daily Apple with the entrepreneurs at DNA Fit: http://www.dnafit.com/us/ , a new research group providing genetic testing/analysis for athletes hoping to optimize their training. From energy/nutrient utilization and susceptibility to connective tissue injuries to one’s predilection for strength based training versus long-duration endurance exercise, DNA Fit hopes to give athletes a wide variety of data so that they can get the most out of their pursuits. While I am very open-minded when it comes to epigenetic research and studying the interplay between our genes and the environment, we must always take pause when new genomic research hits the scene- touting to have found numerous genes showing strong associations with specific physiologic and metabolic functions related to athletic performance.

Of course, being an active person myself, it would be quite fun and interesting to do a DNA Fit test just to see and maybe rationalize in my mind what I already believe to be true with regards to my overall athletic performance, optimal nutrition requirements and potential tendencies to injury. The reality is, however, I have no money for such testing and waiting a few years for the research to evolve and my pockets to fill with at least a little cash may be the better option.

While people like David Epstein and the geneticists at DNA Fit have been studying the role of specific genes in creating the champion Olympian, I had perhaps a more relevant question for the population as a whole that arose from a happenstance encounter with a patient during my recent ambulatory internal medicine rotation. The patient was a 46 year old male, who was by BMI standards, morbidly obese and without significant weight loss in recent months. His diet was improving but still consisted of primarily highly processed and refined foods including a fair share of Hardee’s. In addition, he worked a relatively sedentary job, did not exercise and seemed to be sleeping only 5-6 hours a night at best. Sound like recipe for poor health to you? Other than being obese, however, his metabolic parameters were remarkably within normal limits. From fasting and post prandial glucose to lipids and inflammatory marker such as CRP, he seemed to be free from disease. With no evidence of coronary artery disease, diabetes, dyslipidemia or even hypertension, this guy was managing to defy the odds of his poor lifestyle choices. While there appeared to be almost nothing about his environment conducive to optimal genetic expression, he was still functioning at a relatively high level. How was this man eating donuts and drinking Big Gulps without any evidence of metabolic derangements and better glucose control than his health care providers? Could the blessing of amazing genetics be the answer?

So my questions for the smarter people of the world is this: When it comes to identifying the genes that seem to be associated with optimal health, should we be studying the gold medal Olympians or should we switch our attention to a different population? Was my patient the individual that the geneticists at 23 and Me and DNA Fit should actually be studying? Are individuals like my patient, who appear on the outside to be the antithesis of health, the ones who have the genetic secrets to avoid chronic disease even in the face of a very poor lifestyle? I do not have many answers to these questions, only more speculation into the complicated nature of gene-environment interaction. One thing is for certain, however, there are likely hundreds or thousands of individuals working and living who will never compete for a place on the podium, yet the metabolic and genetic heroics at play within their cells and tissues is probably worth a gold medal.