“We are perhaps pioneers” so observed Dr Ben Lynch to an audience of over two hundred health practitioners in London earlier this month. He was commenting on the exciting times we live in from a health perspective, where our understanding of our individual genes and how nutritional plays a critical role in our long term health, is growing rapidly.
Dr Ben Lynch, an American health professional who is respected for his work on the methylation cycle, nutrigenomics and in particular his specialism on the MTHFR gene and the role of Folic Acid in nutrition was one of three speakers at a conference focussed on the field of Nutrigenomics.
We couldn’t possibly do full justice to the extended topics of methylation and nutrigenomics in any depth here in this article unless we extended it by some ten pages or more! And that is one key point when it comes to both health practitioners and the health conscious public – a need for simplicity. Simplicity in explaining nutritional genomics, translating personal genetic testing, and the application of those test results for the individual.
The changes in the cost of genetic testing has made it available to the many. But how do we make a decision as to whether we should have a test, or whether to encourage testing (or not) for our patients as a health practitioner? And how do we take those results and easily translate them into proactive diagnostics and nutritional treatment? And do so in plain English so the evaluation and treatment processes are all clear?
Let us hold these thoughts for a moment and we will delve into them in this article. The aim of this blog is to provide some useful information to both health practitioners and people interested in learning how nutrigenomics and genetic testing might help their health.
We all have multiple genetic ‘mutations’, but fear not, it is all part of evolutionary genetic design. It is an understanding of what these mutations may mean to our long term health that is a cornerstone of nutrigenomic diagnosis.
Through genetic testing we are provided with an extra layer of health information that may help to explain some ailments we suffer and find hard to eradicate. And through such additional knowledge tailored nutritional and lifestyle programmes should provide truly personalised health support. In addition for those in ‘rude health’ an easily understood genetic profile can alert to any potential long-term health issues and reinforce a programme of nutrition to support optimal health.
We have written a number of blogs on the topic of nutrigenomics and a list of these is present at the end of this article. It seems only a question of time before the terms ‘nutrigenomics’ and ‘genetic testing’ are widely known. And as for Dr Lynch’s ‘pioneers’ comment, it is indeed true that health practitioners, and especially those focussed on nutrition, are at the forefront of this literally revolutionary science. So please read on!
Nutrigenomics, Epigenetics, Methylation & Signalling
We are all genetically unique – we all have slightly different genetic variations – and these can change the extent to which different foods or nutrients can be helpful or indeed harmful to us as individuals. These gene variations change our susceptibility to different diseases and can make certain dietary changes dramatically more important for one person than another.
Epigenetics is the study of genetic changes over generations that are not caused by a change in DNA sequence. We can truly marvel at the ability of human genes to adapt over generations. The changes are brought about through the way genes are ‘expressed’ which has happened to permit the best survival possible of the parents and grandparents etc. in their environments.
We are born with the DNA, the genes, that we ‘inherit’ from our parents. The most recent research now demonstrates that the diet of the mother at a pre-preconception stage will significantly influence the expression of the genes we are born with. During pregnancy and breastfeeding the diet of the mother is critical for the baby’s long-term health too.
Nutrigenomics is the study of the effects of foods on ‘gene expression’. To put it simplistically some of the genes we are born with can become active or inactive during our lives. And diet/nutrition plays the pivotal role in being able to influence turning these genes on and off during our life.
By identifying the unique genetic makeup of an individual, and which of their genes can be influenced by nutrition, the ultimate application of nutrigenomics is to personalise the nutritional advice for the individual to maximise their good health and minimise potential health risks or predispositions.
For those with existing chronic illnesses or ongoing medical conditions, this approach seeks to establish whether aspects of the individuals genetic profile are playing a significant role in the illness in terms of nutrition. Typically this means that a lack of a certain nutrient (or nutrients), or a failure in their assimilation due to the individuals genetics, is a major factor in attempting to resolve or mitigate the illness.
Even for those in apparent ‘excellent health’ a genetic profile can indicate ‘susceptibilities’ toward certain health conditions, particularly in later life. For example methylation errors, when combined with other predisposing factors such as detoxification errors or shortage of nutrients (that help enable the methylation cycle), increase susceptibility to Alzheimers disease, heart disease plus many other chronic degenerative disease, but all of these are modifiable.
Gene expression is the process by which the genetic code of a gene is used to direct protein synthesis and produce the structures of the cell. Genes encode proteins and the proteins ‘dictate’ the cell function. Consequently the thousands of genes expressed in a particular cell determine what that cell can do.
Methylation is one of the body’s most important and most common chemical processes, occurring a huge number of times a second in every cell and organ of the body. As part of foetal development methylation plays a key role. Methylation is a key step in the formation of our enzymes and proteins and this process is called ‘genetic transcription’.
As a result of methylation we are born with genes that are either a) permanently switched off b) permanently switched on; or c) have the ability to be switched on or off and this change is most likely to occur through the factors of nutrition or environmental (e.g. stress, pollution etc.).
Methylation of DNA (not to be confused with histone methylation) is a common epigenetic signalling tool that cells use to lock genes in the “off” position.
Should You Know Your Genes?
Should everybody know their genetic profile? As it was described to me by one health professional ‘yes they should, this is who you are, everyone should know’? Of course some people have a genetic test for very specific health reasons. Many of these are in relation to hereditary risk factors.
The recent news (as discussed on the Cancer Research UK blog) of well known actress Angelina Jolie’s health decisions based on historical family health issues and subsequent genetic tests have highlighted these issues to a much wider worldwide audience. In her case she decided to have surgery to reduce the risk of breast cancer. Her mother had died from ovarian cancer and she discovered she carries a faulty copy of the ‘BRCA1’ gene, which put her at very high risk of getting both forms of the disease.
I think for all of us our heart goes out to anyone in these sorts of circumstances, and both the decision to take the test to establish more clearly the ‘risk factors’, and secondly getting the results of such a test.
And on this theme we start to expand on the more contentious debates around the greater availability of personal genetic testing. For example if a person has a genetic test and quite to their surprise finds out they have the ApoE4 genetic variation then this may leave them shocked.
ApoE4 is carried by a smallish proportion of the population but has been identified as a greater risk factor for Alzheimer’s. In this hypothetical example this news may severely disrupt this person’s life as it has come ‘out of the blue’ as a tremendous shock. Perhaps they are young and the news really is hard for them to assimilate (for want of a better word). Are they literally better off not knowing?
Thus the opposing debate to this scenario is that this person is far better off ‘forewarned, forearmed’ with such knowledge. They can for example avoid contact sports where blows to the head are likely to increase the predisposition. They can take immediate lifestyle steps to ensure that environmental factors such as stress, pollution, avoiding excess alcohol etc. (see below) are moderated – as such factors are likely to increase the predisposition.
They can also take immediate lifestyle steps in terms of nutrition. Recent science is demonstrating the increasing importance of lifestyle factors in helping to minimise the risks of diseases such as Alzheimer’s and Dementia. We have written previously for example on the importance of B-Vitamins in this role. Some health professionals have scoffed at such research but the ongoing evidence seems increasingly irrefutable. Now the latest research from Dr Dale Bredesen from the USA has also indicated that his multi-factorial approach to treating people actually in early stage Alzheimer’s has largely reversed symptoms – incredible and impossible? No. And we will be writing on his work to date, which focuses on lifestyle factors, diet and nutrition supplementation shortly.
Both Dr Dale Bredesen and Dr Ben Lynch also highlight the importance of the methylation cycle when it comes to physical and cognitive health. So a better understanding of this complex bodily process is helpful in seeking that wonderful ‘stasis’ where the body is optimally balanced. And again nutrition, and lifestyle factors are critical to the optimal performance of the methylation cycle. As is nutrigenomics where we come back to gene mutations that may impair the optimal performance of one’s individual methylation.
The Moral & Ethical Dilemma
We can see from the above hypothetical example where the individual learns they have a gene that increases their predisposition to Alzheimer’s, plus the factual example of Angelina Jolie, that personal gene testing carries a weighty debate on the moral and ethical risks and ‘opportunities’. If, for example, you are provided genetic testing on the NHS (such tests are currently only offered in very specific circumstances) then ‘genetic counsellors’ are made available and the patient is encouraged to use them.
From a health practitioner point of view we can see how the use of genetic tests in practice will ultimately provoke some emotive responses – and this will impact on the practitioner too. So introducing the concept of testing to a patient will need careful consideration, tact and forewarning. The practitioner will also need to feel mentally robust enough to deal with the potential for some troubling results.
The Environmental Factors
The first article we published on this blog was ‘Nutrigenomics: Where nutrition meets genetics’ kindly provided by nutritional therapist Katie Clare. As she wrote in the section titled ‘Environment and genetics – intertwined factors in health’:
Individuality in both health and disease is thought to be determined by two fundamental and intertwined factors; environment and genetics. Environment covers many aspects of the life we live including diet, lifestyle, toxicity levels, stress levels, wear and tear on the body and also infections.
There has always been a lot of focus on this as we have been able to see, understand and measure these different variables and make conclusions based on our findings. For example we may say that a Mediterranean Diet, adjusted for the increased stress and toxicity levels of today, is superior to other diets for cardiovascular health, based on research into meta-analysis of epidemiological studies. However as well as environmental factors we now also have genetic predisposition to consider and to incorporate into this research. It allows us to go a step deeper for each individual.
There is no exhaustive list of ‘environmental factors’. And as Katie explains these are factors that occur around us on a daily basis throughout our life. And such environmental factors can affect our genes – both positively and negatively – remember many of our genes and their functions can be ‘switched’ on and off during our life. A typical list of environmental factors would comprise:
- Exercise – Good = Moderate, regular, sensible
- Diet – Good = Healthy! Lots of fruit and vegetables
- Stress – Manage it please. Through diet, exercise, relaxation, support etc.
- Alcohol, drug and tobacco abuse – Avoid them at all costs
- Pollution – external and ingested – Avoid them, and minimise where necessary
- Family and friends – Emotional nurturing is essential. Hobbies and socialising too
- Injury & serious illness – Viruses and injuries need managing (resolving) if they occur
Conclusions – So Many!
At this point I think how wonderful it would be if all of you who read this article could sit in a big room with me and we could talk and debate through some of the points detailed above.
Genetic testing is here to stay; even if it becomes more regulated. So how as individuals and health practitioners do we embrace it for our good and the better health of our patients? Well one fact is that time helps us – every week brings new and valid research and testing improvements.
Two key things are firstly where couples are planning for a child to stress the importance of nutrition both for successful conception, and for the health of mother and child. Secondly to take the simple analogy that once born many of our genes can be ‘switched’ on or off – and nutrition is a key factor here, that a genetic profile can help identify both ‘opportunities for health improvements and ‘threats’ that need minimising. Nutrition can play a key role in the destiny of our health, it has done already from our conception!
The methylation cycle is so complex yet so important to good health, and nutrigenomics plays a fundamental role here too. So educating the public and patients more in plain English on this complex chemical process can only help ‘demystify’ and encourage successful treatment outcome?
Similarly understanding the very building blocks of our body – our cells and DNA, RNA, gene signalling (and methylation) – how it all works and explaining it again in simple terms. Well sorry but that is for a future article. But again I think ‘knowledge is power’ for the patient and a greater understanding can only help.
Rather like Dr Dale Bredesen’s advances in Alzheimer treatment the whole growing field of nutrigenomics and genetic testing makes for the difficult fact that money does still of course play a role. Even with the substantial reductions in genetic testing costs an individual needs the monetary resources to embark on a programme of testing that combines knowledge outcome and a sensible treatment programme. But again that is another debate. And technology again continues to play a vital role in minimising costs. The use of software for example to extrapolate genetic test results and translate them into simple explanations and effective nutritional treatment methodologies is emerging now. But we are still pioneers!
So finally what next? Public and professional keep your eyes peeled for the latest advances in genetic testing and nutrigemonics. For the health conscious public seek suitable advice from qualified health professionals before embarking on the journey of testing and nutritional genomics.
And for health practitioners the debate goes on – do we use genetic testing in literally every instance of patient treatment? Or is it better deployed as a second tier tool in instances where the symptoms seem to fail to respond to treatment and genetics may play an underlying role? Again, that sadly is a debate for another day.
If you have any questions regarding any of the health topics raised in this article, or any other health matters please do contact me (Amanda) by phone or email at any time.
Amanda Williams, Cytoplan Ltd
email@example.com, 01684 310099
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Last updated on 5th March 2020 by cytoffice