– that is the question. And one that many people ponder when they consider purchasing a DNA genomic profile. Do I really want to know if great Aunt Maude’s dementia has an heredity factor to it?
In fact, “genes don’t dictate our health. Genes may load the gun, but our environment pulls the trigger”.
Many people incorrectly believe their genes are their destiny. However, the study of epigenetics shows this is not always the case. Everyday lifestyle factors influence and interact with our genes. What you eat, how well you sleep, whether you exercise, or whether your work/environment exposes you to toxic chemicals, these are all factors that influence the expression of your genes.
How do we know this? Through studying identical twins. Twins born with identical genes carry identical, inherent disease risks. So why does one twin go on to develop the disease, but the other remain disease free for the life course? Or develops that familial disease many decades later? Even Cystic Fibrosis, a genetic disease that affects the lungs and digestive system, caused by a mutation in the CFTR gene is now being studied for epigenetic factors. (1) Because it is a fact – that over the years, as aging occurs and our environments and dietary choices differ, along with toxin, virus, trauma exposures, and different degrees of stress, these environmental factors are capable of influencing an individual’s genetic expression.
This translates to us having varying degrees of control. It means we might be able to shift the balance of our disease risks, by bathing our genes in healthy lifestyle, and positive environmental choices. Whereas to blindly persist in less than helpful lifestyle choices and poor diet, can over time increase the pressure on the trigger of that metaphorical gun. Epigenetic factors include: diet, hydration and nutrition, toxic exposures, sleep, exercise and relaxation, stressors, relationships – be they supportive or toxic, and finally one’s larger community support.
In my clinic, the occasional client now presents with one of the genetic profile reports that are easily accessible online, from a simple saliva sample. Which brings us back to the question – ‘to know – or not to know’. Being aware for example that cancer pops up with some frequency amongst your relatives, can lead people down one of three paths: 1) optimistically blanking out the fact; 2) worrying – chronically – but passively doing nothing; or 3) deciding to investigate, with the awareness that knowledge might be empowering. I’ve no doubt, as the public starts to realise that their diet and lifestyle choices represent modifiable factors with the power to influence some of their genetic expression, will mean more people see investigating and ‘knowing’ as a distinct advantage.
So what do these genetic tests actually tell you? Some simply provide information about your ancestry and relatives. Some will identify carrier traits, which can be useful if you are starting a family. They might also explain your reactions to smells, or taste preferences, or your facial features, or explain why you’re a poor caffeine detoxifier. Some supply your entire genetic profile – listings thousands of coded genetic variants, requiring software to analyse and distill the data into your personal health risks. Others will edit a hefty percentage of the data and simply focus on a few well researched gene variants, and present the information with dietary advice and supplementary nutrient recommendations. But can DNA results in isolation accurately identify your (likely?) individual vitamin deficiencies? Have they also analysed your personal diet and lifestyle factors that determine your vitamin needs and actual status?
Sometimes a genetic test can very usefully direct diet and lifestyle choices. A good example is the person who experiences abdominal symptoms whenever they consume wheat products and gluten. They may have been investigated by a gastroenterologist who has seen some elevated markers in the relevant blood test, but not been able to confirm Coeliac disease, because their small bowel tissue showed no visual signs of inflammation or the tissue structural changes which is required for a formal diagnosis. Should they go back to eating gluten when it causes abdominal distress? What if a genetic test showed they were (HLA) DQ2/DQ8 positive, in common with 95% of the Celiac population? (2) Now that evidence could helpfully inform a decision to avoid gluten going forward, to reduce the risk of their possibly developing end-stage Celiac pathology.
Many disease conditions progress quietly and undetected for years. Poor diet and lifestyle choices can create mild biochemical imbalances that our bodies adapt to and for a while compensate for. It can be many years before a threshold is breached and overt symptoms or end-stage pathology makes itself felt. This is where Functional Medicine can be such an asset in terms of prevention, rooting out and identifying upstream, early stages of imbalance before it manifests as pathology and becomes a diagnosis, which can be much harder to reverse.
So when clients arrive armed with a genetic test result, my approach stems from a training in the Functional Medicine model, and involves a protocol of 3 stages that will be tailored to that individual, based on the information supplied by them completing a health & nutrition questionnaire, their genetic profile, and on further discussions during the initial consultation.
Stage one involves looking at some basics, their foundational lifestyle factors that represent the starting point for everyone: balancing their dietary macronutrients, (carbohydrate, fats, proteins); a look at the individual’s sleep hygiene; as well as activity levels. These are foundational factors that need to be in place for everyone, regardless of what fine-tuning may be necessary for an individual’s genetic predispositions.
The second stage may involve some functional testing, again – led by what is revealed in the person’s questionnaire and ‘discovery’ during the first consultation. I may suspect hormone imbalance or gut microbiome imbalance and want to test to confirm if this is a contributory factor. If the published literature relating to their ‘disease predisposition’ cites nutritional deficiencies as a mitigating factor in the development of that disease, this is something I can test the individual for. Or I may suspect nutritional insufficiencies being caused at the micronutrient level, due to their unavoidable lifestyle factors. This can be fairly critical as micronutrients control and regulate a lot of our physiology as well as gene expression. Micronutrients like vitamins and minerals can also be tested via urine analysis, because what we eat is not always reflected in what we absorb. We are not all one size and ‘average’ and factors in our lifestyle – sometimes unavoidable – can result in higher use of, and need for certain micronutrients, leading to their depletion and insufficiency. So this testing can confirm if any insufficiencies exist before dietary changes are advised.
Getting the first 2 tiers in order is essential before addressing the third. Perhaps the person’s genetic report has revealed a higher risk for a certain health condition, so understanding the upstream root causes that are commonly involved in such a condition developing, can translate into preventative measures, dietary manipulations, and the use of targeted nutrients to mitigate that direction of flow.
Some conditions have inflammation as a major component, others have immune activation stemming from a hyper-permeable gut. An overly leaky gut can be exacerbated by a loss of diversity in gut flora, which may have resulted from unavoidable antibiotic use. Others may have unresolved pain or stress or patterns of destructive behavior relating to things in the past. All these things are not only epigenetic factors that can influence gene expression, they can be managed nutritionally, or where psycho-social factors are involved I will refer on to the relevant health care specialists. But even depression, anxiety and several mental health conditions are now known to stem from gut disturbances.
So this final stage may involve developing strategies to help the client dismantle the patterns of behavior feeding in to, or mediating the down stream result (symptoms) of many upstream factors. Behaviour change is not easy, especially where diet is concerned. But knowledge can be empowering and motivating, so armed with the information a genetic report can provide, motivation for behavioural change can be more easily sustained.
Geneticists will continue to search for the actual genes that may single-handedly cause disease x, y, or z, and hopefully a few diseases will even be consigned to history this way through the wonders of gene editing. However many chronic lifestyle-related conditions result from a mixture of genes being expressed through multifactorial influences. And of course the opposite is true too – longevity and a long healthy life-span can also result from some genes being silenced through beneficial levels of the right nutrients and protective lifestyle choices. We can both switch genes on – and off.
None of us has a crystal ball, and none can predict when life will throw us a curve ball, but if these genomic reports motivate people to be proactive in their lifestyle choices for the good, and understand that knowledge can be empowering, then they might potentially serve a useful purpose, under the guidance of properly trained health care practitioners.
(1) Sirinupong N & Yang Z (2015) Epigenetics in Cystic Fibrosis: Epigenetic Targeting of a Genetic Disease. Current Drug Targets 16(9):976-87
(2) Laurikka P et al., (2018) Extraintestinal Manifestations of Celiac Disease: Early Detection for Better Long Term Outcomes. Nutrients 10(8) pii: E1015. doi: 10.3390/nu10081015.