How many people do you know that suffer from unexplained health issues?
There are the stoical ones who put up and shut up, but you know are suffering in silence, and there are those who doggedly persist with regular visits to their GPs, determined that at some point an explanation will be found for their grumbling symptoms. In either scenario, blood tests probably came back saying all was fine, ‘no action needed’. Quite understandably, these people feel frustrated that their “unexplained symptoms” don’t fit concisely into a diagnosis box, yet feel very real to them.
How many people do you also know caring for a relative with a chronic disease? They may wonder if that same disease is lurking on their own health horizon. It’s known that depression and heart disease run in families,1,2 and you’ve noticed that your father’s compulsive obsessiveness seems to have been inherited by your sister, but not by you. You, on the other hand, seem to have inherited your mother’s tendency to pile on the pounds when you so much as look at a doughnut. So is it the luck of the draw where genes are concerned? If so, should we just bury our head in the sand? The answer is an emphatic no.
Chronic, lifestyle related diseases are now the leading cause of disability, diminished quality of life, and death.3 Lifestyle related diseases include cardiovascular disease, cancer, respiratory disease, type-2-diabetes and the dementias, which some are calling ‘type 3 diabetes’. We know these conditions are diet related, and the medical world has been slow to wake up to the fact that food is not just a unit of energy. What we eat also acts as information for our physiology and our genes. Our current epidemic of metabolic diseases has its root in the fact that our modern diets and lifestyles are out of kilter with our genome. The present day high glycemic diet, dominated by refined, processed grains and added sugars is a very recent phenomenon in terms of our evolution. These foods were rarely consumed as recently as 200 years ago. There is quite simply genetic discordance with our environment and dietary habits.4
We also have an epidemic of ‘unexplained’ illnesses, which may be because these diseases are out of kilter with a healthcare system designed to eliminate infectious agents and diseases, though still impressive in delivering acute healthcare, where surgery or drugs can be lifesaving. So, with progressive, chronic, lifestyle related conditions that slowly debilitate and respond indifferently to a multitude of drugs that aim to suppress symptoms, is it time to be more proactive, to get ahead of the game, and work preventatively? It could save millions for our cash-strapped healthcare system.
Many people incorrectly believe their genes are their destiny. However, the study of epigenetics within the context of identical twins has shown this is not always the case. Twins born with identical genes carry identical, inherent disease risks, but research shows that one twin can go on to develop a disease, but the other remains disease free for the life course, or develops the disease many decades later. What caused that difference? We now know that whilst genes can be a dynamic factor in our health, our environments, dietary choices and experience of stress have the power to influence our genetic expression, making some of us more susceptible to these diseases, or advancing their progress.5
So if our genetic inheritance is not a fixed set of instructions, passed on through generations, and we can actually shift the balance of our disease risks, by bathing our genes in a healthy lifestyle, and positive environmental choices, it makes sense to have some kind of personal roadmap. DNA analysis is starting to provide just such a map.
The epigenetic factors that interact with our genes include: diet (hydration and nutrition); toxic exposures (inhaled pollution, ingested pesticides, heavy metals or chemicals absorbed from cosmetics and beauty products); sleep, (the amount and the quality); exercise (too much, too little); relaxation; relationships (both emotional support and the larger community). Of course, leading a saintly life will not automatically ensure you enjoy a disease-free future, but wouldn’t it be useful to know which measures most applied to each of us?
Our genes (and we have about 20,000) come in one of three variations. We can possess the wild-type – generally considered the more resilient and better functioning type, or we can possess a ‘variant’, which slightly alters the function. These variants, or SNPs (pronounced snips), are responsible for our ‘differences’, and our uniqueness. Possessing one SNP can slow down the activity of a particular gene, having two SNPs on a gene can make a measurable difference, unless we know and understand how to proactively take steps to mitigate that direction of flow.
Our SNPs may be contributing to a preference for carbohydrates, or a hair-trigger temper, or conversely a very placid nature. We might have SNPs on a gene that mean we have boundless energy but an inability to wind down, or a laser-sharp focus, or a tendency towards distraction. The effect of some SNPs may be heightened, or toned down by employing certain lifestyle choices, like better sleep patterns, or stress avoidance, or consuming specific dietary nutrients above the recommended daily allowance. Some can be better managed through being particularly fastidious in the avoidance of chemicals, because certain chemicals exacerbate an already slowed function being caused by a SNP. We each need a roadmap.
This awareness should help to answer the question: whether to test or not to test. Previously, when genes were considered immutable, why would you want to know if those familial diseases that seemed to randomly hit a high percentage of your family were in your genetic destiny? Now we have some understanding about the ones that are being influenced by modifiable factors like dietary choices and lifestyle factors, it’s a different ball game.
This could be why the world of Functional Medicine has embraced DNA analysis as a tool to augment its preventative approach to healthcare. Functional Medicine has always been more concerned with the dynamic process a body is going through to reach the endpoint of a disease.6
By investigating and addressing the upstream root cause that triggered that process, leading to dysfunction, the endpoint – the disease – can often be avoided or halted. This approach can now be further fine-tuned on discovering that the pathway leading towards dysfunction/disease is being determined in part by the interaction of an individual’s genetics with their environment, diet, and lifestyle. So Nutrigenetics can be a dynamic tool to personalise nutritional advice, guide dietary and lifestyle choices, for disease prevention and health optimisation.7
Geneticists will continue to search for any genes that may single-handedly cause disease x, y, or z, and hopefully, a few diseases will even be consigned to history this way via gene editing. However, science is revealing that many of today’s chronic and debilitating conditions result in part from the activity of certain genes being either turned down, or up-regulated as a result of lifestyle factors that are within our control. The opposite of course, is also true too – longevity and a long healthy lifespan can also result from some genes being silenced through beneficial levels of the right nutrients and healthy, protective, lifestyle choices.
None of us can predict when life will throw us a curveball, but if these genomic reports provide the roadmap to motivate people to be proactive in their lifestyle choices, understanding that knowledge can be empowering, they can assist anyone who prefers to take personal responsibility for their health and wants to live the best possible life they can.
1 Shadrina M et al., (2018) Genetics Factors in Major Depression Disease. Frontiers in Psychiatry 23;9:334.
2 Skrzynia C et al., (2015) Genetics and heart failure: a concise guide for the clinician. Current Cardiology Reviews 11(1):10-7.
3 Sagner M et al., (2017) The P4 Health Spectrum – A Predictive, Preventive, Personalized and Participatory Continuum for Promoting Healthspan. Prog Cardiovasc Dis. 59(5):506-521.
4 Cordain L et al., (2005) Origins and evolution of the Western diet: health implications for the 21st century The American Journal of Clinical Nutrition 81(2) 341-354
5 Saavedra K et al., (2016) Epigenetic Modifications of Major Depressive Disorder. International Journal of Molecular Science 5:17(8)
6 Bland J (2017) Defining Function in the Functional Medicine Model. Integr Med (Encinitas). 16(1):22-25.
7 Fenech M et al., (2011) Nutrigenetics and Nutrigenomics: Viewpoints on the Current Status and Applications in Nutrition Research and Practice J Nutrigenet Nutrigenomics. 4(2): 69–89