Testing & Diagnostics

8th December 2017

For those of you who follow me on Instagram you will have seen a little while ago that I was digging into my own genetic analysis. Having tried many programs and pieces of online software over the years since obtaining my 23andme data, I have been either underwhelmed or utterly overwhelmed with the information provided. From the other opinions I have read, my experience is apparently fairly common – with this sort of information either proving too general and non-specific or proving way too detailed and un-interpretable.

However, a chance connection at a conference led me towards the DNA Life tests – for once, a panel that you can run that doesn’t just “interpret” or synthesise information using the raw data from 23andme. This means that DNA Life sidestep the nasty FDA wrangling that has plagued 23andme and meant many SNPs have not been reported on for a while. Even though this argument seems to have been resolved, there is still a lack of usefulness to the 23andme raw data, and many compromises with the programs that you can purchase online which algorithmically assess this data.

So, intrigued and interested about what happens when a company specialises in actually deciding what is (and is not) relevant from the human genome, and uses their own lab to analyse the genetics, I ran my own panels and attended a recent training weekend run by Nordic Laboratories. During three days (of information overload!) I had the opportunity to really learn from those who live and breathe these genetic analyses. And the results were surprising.

 

Commercially Available DNA Analysis

 

If the words and terminology in these first paragraphs have lost you already, then you may appreciate this small primer on genetics:

We all have DNA – and it’s what governs a lot of how our bodies are built and how they function. DNA is very important, certainly. However some elements of the DNA code are more important (i.e. more deterministic) than others. That means that there are some parts of DNA which ‘code’ for e.g. height or eye colour. These are relatively unchanged by outside influence.

However, there are other parts of our DNA that are more malleable – and can be directly affected by things that occur outside of the DNA that we are born with, known as ‘epigenetics’. The DNA which can be affected by these outside influences (think diet, pollution, lifestyle, sleep, mood and pleasure) are responsible for everything from metabolism to heart health, hormonal health to exercise preference, dietary adaptability to your predisposition to certain diseases.

 

In the early days of DNA analysis we (by which I mean the proper, high-level, highly intelligent scientists) felt that understanding DNA would be far more predictive and deterministic than it has turned out to be. Instead of DNA being an absolute 3D Map of our biology, DNA has turned out more to be more like a blueprint. Whilst it gives us the outline, the architect that is ‘life’ itself doesn’t necessarily always stick to the plans. Life happens, stuff gets in the way – and the final product (us) is a combination of the genetic blueprint and the life experiences we have been through.

 

In light of the fact that we now know that DNA indicates (in most cases) predisposition as opposed to determination we can say that it shows us the paths it will be easier for us to take, but it doesn’t categorically tell us the way our lives will go. That means that we can have some autonomy within our health outcomes. Using an awareness of the practices and the choices that can assist our wellbeing we can treat our bodies well, specifically attending to the ‘weaknesses’ we can see within our own DNA blueprints.

Because of the fact that genetics don’t automatically guarantee health outcomes (some say 80% of what contributes to illness is NOT genetic), many within healthcare question the value of making DNA analysis commercially available.

Despite the fact that I have bona fide genetic conditions, I have long been in this camp – the sceptical, ‘but what use are these panels?’ camp. This is mostly because I am aware of the limitations of what we do not yet know, what we cannot yet interpret or understand, but also because there is something rather dis-empowering about understanding genetics. It can leave people feeling that there is nothing that can be done to help them.

 

Additionally, sometimes this genetic information is of no benefit because the activities and practices which safeguard us against the less favourable fates that our genes may predispose us to is always the same… healthy diets, don’t smoke, regular exercise – though not too much, pleasure and fun – though not to excess and a sense of purpose or meaning.

 

The ‘less favourable fates’ referred to above are seen within what are known as ‘single nucleotide polymorphisms’ (SNPs). Basically, each part of your genetic code is made up of a set of proteins. We know which proteins go in which place to make the genes work properly. If you have a protein that is different to what is ‘normal’ or ‘expected’, this is known as a SNP. Because we inherit a copy of each gene from each of our parents, we get two places where the protein can be ‘right’ or ‘wrong’. If you get just one ‘right’ protein and one ‘wrong’ protein this is an heterozygous SNP. If you get two ‘wrong’ ones this is a homozygous SNP. If you get both ‘right’ proteins, you have the ‘Wild Type’ (i.e. the most prevalent in the population).

Whilst the Wild Type is the most prevalent, it must be stated that what is determined as the Wild Type can differ in different populations so it is not universally the same.  And yet, when programs analyse your data they do so knowing which populations you fall into – so they can tell which proteins make the gene work optimally for you.

 

The basic principle behind genetic analysis is that we know the function of some genes (note: some, not all) – and we also know how having one or both of the ‘wrong’ proteins in some genes can change their function and/or ability. In some cases, we can even quantify the impairment of function for the process encoded by a gene. Having your gene testing done shows you where and how many of these SNPs you have and therefore the areas in which your normal human physiological processing may be ‘struggling’.

 

A key point to make here is that we (mostly) know what we know about genetics by looking at people’s gene proteins and evaluating the effect certain protein variations have in a given population. This can be thought of as reverse analysis in which we know the effect and we hunt for the gene which is responsible. We observe what happens in certain physiological systems when someone has a genetic SNP. I don’t point this out to suggest it’s bad science, but to highlight that we know a bit about genetics – but we are far from understanding all of it. Therefore what we believe about certain SNPs now is subject to change as we learn more. This has happened several times within the world of genetics already, and it is almost guaranteed that it will happen again in the future. Additionally, we may eventually discover other parts of the DNA which counteract or balance out the SNPs that we currently know a lot about.

 

This lack of conclusive certainty doesn’t make analysing our DNA bad… it basically makes it like every other scientific understanding. However, it does mean that when we undertake to obtain DNA results from a lab like DNA Life you really need to be mindful of what you are getting, and what this tells you about yours elf – and also what you cannot say given your test results.

 

Let’s be clear – when you have any of these tests done, even 23andme, you are not having your entire genome sequenced. It is possible to have this done, but it is both phenomenally expensive and ridiculously impractical. DNA is everything that codes to build a human being and knowing every result for every point of code is an unwieldy mass of information that isn’t particularly useful. What you are getting in these consumer-ordered DNA analysis profiles is a list of anywhere between 20-50 SNPs – and these are the SNPs that actually matter, i.e. the ones that directly influence health and function. They are also the SNPs that we have actual evidence and well-researched outcome data for… in most cases… because, as always, there are those labs that release SNPs which we don’t know the import or the impact for. The eventual list of SNPs reported upon can actually be quite small, therefore. It should be. And again, this isn’t a bad thing – it keeps analysis focused, specific and evidence-based. Mostly.

 

How Does DNA Life Compare?

 

This is why I have been very unsure about DNA Analysis panels before. There is much controversy, contradiction and flat-out opposing views on the internet about many SNPs. There’s also a lot of single-focus analysis, by which I mean there can be lots of information about one SNP, but this is done completely out of context. The truth is that no one SNP is powerful enough to derail anyone’s biology. And in some of these analysis panels or Internet forums you would be forgiven for thinking that it could.

 

Far from isolated points of interest, most of the science behind the SNPs that we currently have research for falls into just a few basic areas of wellbeing, or physiological systems: nutrient metabolism (i.e. diet guidance), metabolic health, cardiovascular risk factors, inflammation and oxidative stress and detoxification capacity. These areas influence almost all of human wellbeing. Knowing how you’re ‘built’ in these areas (by analysing multiple SNPs in each of these broad categories) can directly inform the choices you make in everyday life to safeguard your health and wellbeing.

 

My previous criticisms of genetic panels have been that no matter the SNPs, the general recommendations to eat a healthy diet, exercising, sleeping and ensuring adequate socialisation all turn out pretty much the same. There are countless people with the results from more inferior panels which simply (and very generally) suggest ‘eat more fat, less carbs, Mediterranean-style dieting with moderate amounts of exercise’. If I had a pound for each genetic panel which told me that I’d be a very rich practitioner.

And yet the beauty of Functional Medicine approaches is that they aim to personalise and hone the treatment protocols and recommendations for each individual. Previously, genetic analyses have not helped me in this respect, because whilst I could see a little bit about B Vitamins and Vitamin A, something about neurotransmitter clearance and a little about insulin resistance, there was no panel that gave me a clear insight into the importance of each element for each client. The biggest hazard with Functional testing is that the data you can accumulate becomes so broad that it ceases to provide information – or the testing just reveals the obvious (i.e. in salivary cortisol testing).

 

The biggest benefit that I have found in viewing my own and my clients’ DNA Life analysis is that, for the first time, I feel that the results I obtain are useful enough to empower me to personalise the recommendations I provide for each individual client’s health – in every arena from the macronutrient composition of diet to the level of care that must be taken around toxin exposure and inflammation management.

 

Whilst DNA Life is an algorithmically produced computer assessment of DNA data, like many other reports out there, there are several things which make these stand out as the best in class. Firstly, they lump the SNPs together in terms of the area of physiological health they affect: inflammation is in one section, methylation another, detoxification another, oxidative stress another and then there are sections for lipid metabolism, bone health and insulin sensitivity – with some random single markers on the end which indicate salt, caffeine and alcohol sensitivity/metabolism. Not only is this a really useful layout, but the DNA Life panels go one step further:

 

They then quantify the amount of impact the SNPs that you have give you in each of these different physiological areas. This isn’t just adding up SNPs numerically. Instead, they perform the rather complex analysis wherein they rate the SNPs in terms of their percentage impact on human physiology (as stated above – some SNPs have a greater weight of impact than others). By totalling not just the number of SNPs but also the proportional levels of impact they can point the patient and practitioner towards the areas that warrant the most attention.

And, wonderfully, there isn’t a “have this SNP, take this supplement” suggestion in sight. Not one. (Probably because DNA Life aren’t selling supplements… not that I’m cynical or anything!)

 

Instead, there’s suggestions to “be aware of this” and to ensure that the diet is rich in certain nutrients etc. Specific nutrients, which type of fatty acids (not just ‘more fats’) and precisely how attentive you need to be to lipids and insulin etc.

They do, of course, cover the important SNPs that you’ve heard of – MTHFR and COMT for example. They DO NOT cover the “CBS up-regulations” which certain practitioners on the internet have spread much misinformation about. They do highlight insertions and deletions for the Glutathione S-Transferase gene (a lot of programs which utilise 23andme cannot do this) and these panels are just about the right length. They provide information without overwhelm, and when it comes to genetics this is a difficult balance to strike.

And I’ve only, thus far, spoken about the “Health” panel from DNA Life. They also do a “Diet” panel – a really nuanced insight into the way your body is likely to process, crave, consume and metabolise certain nutrients (macro- and micro-) and how your body will behave in response to dietary composition. Then they offer an “Oestrogen” Panel – all about hormone metabolism, clearance and detoxification. This is one of the most useful DNA reports I have ever seen. This shows us the impact that lifestyle measures (toxins, phyto- and xeno- oestrogens, moulds etc.) will have on someone’s hormones and hormone clearance. In a world full of hormonal dysregulation it is fundamentally important to have this level of deep information to understand where the real points of impact will be for anyone struggling with hormone issues.

Lastly, they offer a “Sport” Panel. This isn’t going to tell you what sport to do, but roughly where your genetics give you advantages in the exercise realm. This is about whether you’re predisposed to power vs. endurance, but isn’t ever going to say ‘do this exercise’. Instead, it will indicate the exercise levels that you are likely to need to gain health benefits, along with the types of sports you are likely to excel in. This is not prescriptive, but it does explain something to clients about why they’ve always hated running, for example. It also indicates the inflammation and oxidative stress potential which can show you how much recovery needs to be built into your workout regimen. In dealing with Type A individuals (and being a bit like one of those myself!) this part is really useful… in that it convinces you of the importance of self-care and rest!

 

The Benefits of Knowing About Your DNA

 

Previously, I would have argued against these kind of tailor-made panels. Instead, I used a combination of 23andme and a tool called Strategene in order to synthesise the data and then I would use my experience and knowledge to pare down the relevant information and share that with clients.

 

However, the combination of my recent in-depth training and my deep evaluation and assessment of the DNA Life tool has changed my mind. I am now more convinced than ever that – for some individuals, though not all – having the genetic information is an important tool in any healthcare journey.

 

I want to be explicitly clear about who I think this tool would benefit, the circumstances in which it should be used – and who would not benefit from having this information.

My view is that these panels should only be ordered by professionals qualified to interpret them. Whilst they are share-able with clients, the information in the printouts is a little general, and a little more algorithmically ‘prescriptive’ than I would ideally like. It can (and has, with at least one of my clients) lead patients to believe that certain things are really important when they aren’t. It also can be a little confusing because if you just read these as instruction manuals then you could, again, be left feeling like you have to do EVERYTHING in order to be well.

The benefit of a practitioner analysing this data comes because knowing the DNA data means that we know what is the best thing to recommend for each client. Adding genetic tests into our armoury of tools gives us the following benefits:

 

  • It shows us where to put the emphasis for nutritional and supplemental support – it can guide us to the systems that most need supporting. This limits the ‘do everything’ approach and instead empowers us to recommend treatments and dietary interventions which are going to have the most impact

 

  • It provides us with powerful explanations for health issues which may, thus far, have seemed mysterious or inexplicable. This is true for conditions which seem to run in families, with the DNA results showing us some of the heritable components for certain issues. However, this is also relevant for situations where one person in a family seems to have suffered more whilst facing the same exposures, e.g. to toxicity. Understanding the makeup of each individual’s detox, inflammation, metabolism and oxidative stress pathways can show a practitioner why these issues may have occurred for this individual. Knowing our “why” is, I believe, a cornerstone of making progress towards being healthy

 

The Flaws in DNA Analysis – DNA Life and Otherwise

 

It must be said that the genes that we currently know about are an incomplete picture. This means that there is always the potential that at some point in the future we will discover import behind different genes that will counteract and/or alter what we already know about some of the genes. Some would argue that this makes current genetic analysis use a little irresponsible. However, I approach this from a very clinical perspective – i.e. I am really interested in the things that make the difference in the lives of my patients… now.

If I can recommend an alteration to diet or exercise based on the genetic analysis that I have conducted there is an almost immediate feedback loop from my clients. This feedback is how we make the ultimate decision about what suits their current health – and the information that emerges out of DNA analysis guides initial suggestions of protocols or lifestyle measures, with the in-clinic outcomes governing the decision to continue with the chosen treatment.

Another criticism is that genetics data can be quite predictive of certain health conditions. Alzheimer’s is one of the more well-known conditions which we know is associated with a certain SNP. Many stress that there is no point in knowing about your genetics because having the awareness of how you’re ‘programmed’ simply freaks people out.

 

And yet, this is a narrow-minded way to look at DNA analysis, based on the old assumption the genetics were deterministic. However, more and more we are discovering that improving health outcomes in the long term requires a host of interventions in the short term – but lifestyle measures really do work to offset chronic illness and disease.

The lifestyle interventions can be diverse and ‘solutions’ are often multifactorial, but they are also relatively simple. The interventions we now know tip the balance in (e.g.) neurodegenerative conditions are the same that tip the balance for heart health, metabolic function and overall wellbeing. Knowing the risk factors (i.e. the genetics which predispose you to health conditions) doesn’t provide a prescriptive view of your future. On the contrary, it often provides the incentive to pay attention to the many things that you can do – in the now – to safeguard your health over the course of your lifetime.

 

Clearly, there are those for whom the added anxiety of this information is not a sensible addition into their life. These are the people with any existing health anxieties and/or the tendency to need to over-research things. This also includes those who tend to identify with the labels of illness. I have said it before but it is worth reiterating: buying into the moniker of an ‘illness’ is a complex and unwise thing to do because mindset and perspective make a drastic difference to our ability to influence our wellbeing. If you are someone who has a negative view of your body and your health, it is perfectly possible that you will utilise any DNA data as yet more evidence of your poor fortune.

However, still in such cases I would argue that it is worth having a practitioner run a DNA test for you – and keep the results to inform their work but NOT share all of the markers with you if you decide you do not wish to know. Clearly, this must be done with agreement and consent on both sides. This is helpful because so many anxiety and mental health states actually have an element of genetic predisposition in the way you metabolise neurotransmitters. Understanding your health in this level of detail can therefore directly help you tackle the mental health issues and anxiety which you may have, and also explain the origins of some of that anxious predisposition for you. This is always a benefit because it allows to lose one of the most powerful negative health influences: guilt.

 

The absolution of guilt and the enhancement of self-understanding is, to my mind, one of the most compelling reasons to obtain your genetic data.

 

Clearly, with my own genetics, I was always going to be fascinated to know what of my ‘stuff’ could be seen in my genes. And sure enough, within my DNA panels from DNA Life I have found explanations for my complicated hormonal picture, the odd inflammatory issues I have, my trouble with moulds and toxicity and my soft tissue SNPs are all there (though you cannot predict connective tissue disorders from these DNA panels you can tell how prone to damage your collagen might be).

But interestingly, knowing my SNP data has changed my behaviour in one key way. It has made me understand how necessary the things I do to safeguard my wellbeing are. Whilst I am not overtly mired in unnecessary vanities or health obsessions, there are things that I do (automatically now) and situations that I avoid and dislike – and you can see why those things are damaging to me written right into my DNA.

I am living proof that genetics are not your destiny. If you looked at my SNPs alone you would be forgiven for thinking that I would have really serious health issues. And whilst I have a connective tissue disorder, I genuinely do not have any other major illnesses any more. The small practices I have, the care I take over my body and the way I live is more than likely why I don’t experience the ‘negative’ effects that I could be expected to if you just looked at my SNPs. I did not have the privilege of DNA data to understand how important these measures were for me – I just had to go through good old fashioned trial and error (and a hell of a lot of error).

Having this information is reassuring for me to know why I do what I do (and more will be coming on that in a blog before Christmas, where I will share where I am at, what ‘conditions’ I’m still dealing with… and how I’m dealing with them). However, for my clients, having this information up front will enable me to more accurately map out and prioritise interventions, treatments and recommendations. I truly believe that this DNA analysis can be a powerful tool in helping people identify the healthy habits that they would most benefit from implementing in their life.

 

If this article has intrigued you and you want to know more about the DNA Life Panels or finding out about your own genetics, please click here to send me an email today – I’d be delighted to guide you and to help you understand your own DNA.