SNP testing is booming in medicine but we need to be mindful of how these tests are being delivered and interpreted. Patients and practitioners need to be aware of the calibre of the testing companies, and the quality of the results they're receiving.
Today's guests, Dr Elvira Zilliacus and Linda Funnell-Milner believe in treating the patient, not the SNP, giving ethical, caring, and targeted information about the relevance of SNP testing to their patients. Today they talk to us about how they're delivering genetic results in the clinical setting to empower rather than burden their clients.
Covered in this eipsode
[00:50] Introducing Linda Funnell-Milner and Dr Elvira Zilliacus
[02:23] Linda's professional background
[03:31] Elvira's history in genetics research in tele-health
[05:21] Linda's journey into nutrigenomics
[09:44] How did Linda and Elvira begin working together?
[11:24] Ironing out the terminology
[14:57] Is direct to consumer DNA testing appropriate?
[17:17] Genetic reports without proper counselling can cause undue stress
[18:58] Is more knowledge about genes doing more harm than good?
[26:09] Conveying messages about genetics to patients
[31:25] Does a SNP change dietary and lifestyle interventions we're already likely to be using?
[39:30] How well are patient's grasping the meaning of SNPs?
[42:11] Staying ahead of the evidence
Andrew: This is FX Medicine, I'm Andrew Whitfield-Cook. And joining me in the studio today, is Linda Funnel Millner and Dr. Elvira Zilliacus. And we're going to be speaking about "Treating the Person not the SNP." But first, an introduction.
In 2009, Linda began working in the field of clinical hypnotherapy, and neuro-linguistic programming after 20 years in corporate law where she worked in executive roles in the finance industry, and in particular on the impacts of lending practices on climate change and human rights. Linda was the chair of a United Nations-sponsored council in Amsterdam for six years. Since qualifying in nutritional medicine, Linda has brought her forensic approach to this aspect of her client's health, assisting them to understand the many choices they have using her knowledge of epigenetics, nutrigenomics, and lifestyle interventions.
Elvira has over 20 years experience in genetic counseling and research, bringing to clients the ability to explain complex genetics in plain English, something I do very poorly. With her background in adult education, teaching master's level genetic counseling, research, and kinesiology, Elvira bridges both worlds of classical genetics and complementary medicine. She developed the helix optimal wellness model which provides tailored, personalized, nutrigenomic strategies based on the latest genomic and nutritional science. And I welcome you both to the studio today. How are you, Linda and Elvira?
Elvira: Thank you. Very well.
Linda: Thanks, Andrew.
Andrew: Now, we're going to be talking, as I said, about treating the person not the SNP and this is a real danger, isn't it? So, first, how about a little introduction? Now, Linda, I've known you for a little while. Your history amazes me, where you've come from. Why the change? What sparked the change?
Linda: Well, it's interesting. All of my career has been about early intervention in one form or another, whether, you know, it was lending practices or nutrition is, that is a preventative approach because every day we have 200 interactions between, you know, the food we eat, the gut microbiota in our DNA. And so, nutrition also for me is about early intervention. So that's kind of the thing for me. I, you know, will put my hand on my heart and say that I did retire, but...
Andrew: Hate you.
Linda: I'm lousy at doing nothing, which I think, you know, is pretty obvious.
Andrew: You're a human doing.
Linda: Yeah.
Andrew: And Elvira, what about your history?
Elvira: Well, I started in a very classic genetic counseling. I worked in prenatal genetics, and general genetics clinics up in the Hunter region. And I moved into research doing a Ph.D., looking at communication across tele-health, or video conferencing for breast cancer, genetic counseling.
While I was doing that, I was so phenomenally dry and bored that I studied kinesiology, which has always been a bit of a passion. I've always been interested in complementary therapies. I've always leant towards preventative care. And so, I studied that while I was doing my Ph.D., and came out of that really interested in how I could bridge both, and how I could combine both because I could see potential for both to work together. And that certainly where the area is moving now.
Andrew: So, you did your Ph.D. in genetic counseling for breast cancer risk groups? Was it?
Elvira: They were high-risk women coming in to see a familial cancer service to talk about their risk of breast cancer BRCA1 or BRCA2 gene mutations. And I was specifically looking at the interaction across distance. So how are we providing services for rural women and...
Andrew: Diabolically? Is that the answer?
Elvira: Well, funnily enough, actually, our clinicians performed better across tele-health.
Andrew: Oh, really?
Elvira: Than they did face to face, yes. So that was really interesting.
Andrew: That’s interesting.
Elvira: You put somebody in a focused environment, they do very well.
Andrew: Wow.
Elvira: And I also worked with some pretty talented clinicians because they were at the forefront of this. So, they were already good communicators to start with. In tele-health they were even better.
Andrew: And, Linda, what was your first introduction to nutrigenomics or the SNPs? Like, I just remember being bowled over. "I just… noooo!"
Linda: Look, I'm always fascinated when you speak to people who are part of a functional medicine movement. That, in some way, there is a personal story there. And I certainly had a personal story. And while the nutrition aspect of it was interesting, actually, the very first inkling I had was sitting in a conference listening to Dr Carole Hungerford. Who many, many years ago… and she's an integrative GP--and she really opened my eyes to a whole series of things. And when I explored that, I had an incredible life-change in myself, where I had been taking medication for something for 40 years. And within a couple of weeks, I just did not need that anymore.
Andrew: Wow.
Linda: And not only that but and I've never needed it since. So, you know, there is the academic learning that is always, you know, it’s such an exciting area every time I hear David Perlmutter, you know or, Jeffrey Bland or Dale Bredesen, I get very excited. But when you see that it changes lives, some of the simplest things can change people's lives, it’s amazing.
Andrew: Yes. You know what? I vacillate between hilarity and anger. And that is my pre-conception of how an orthodox practitioner might view the very common story of natural health practitioners saying, "I had, so therefore, dah, dah, dah." That's why they have such expertise. And the intellectual part of my brain would say that, you know, those people would lambaste that and say, "Well, therefore you're saying… viewing it with a skewed perspective, because you want things to work. So there's placebo and so, therefore, it's all rubbish."
What I think is hilarious is particularly just of late, I've seen probably about five, six stories so far in a medical editorial where it has been the GP's experience, personal experience of a situation that has changed them. For instance, being the patient. Having someone die in their family, having someone have cancer. And it's changed how they went, "Oh, my God." I think that it's got to do with life lessons. Do you think that you really need to have some life lessons before we even initiate?
Elvira: SNP testing?
Andrew: SNP testing or management?
Elvira: I think having taught postgraduate education, I think you actually need to have life lessons before you do very much at all. Because it gives you an understanding of actually what you don't know. And I think in the SNP story, it's really important to understand what we don't know as much as it is to understand what we do know.
And too, every health practitioner, I think is motivated by some aspect of their own personal story. And it doesn't take very long to dig into that when you talk to doctors, genetic counselors, nutritionists, particularly in the complementary health movement. I think there's a greater body of people that have been unwell. They've done the A-type executive life pattern, run themselves down, and then gone, "There has to be something else. Western medicine has not served me."
Andrew: Yeah.
Elvira: And then they start looking.
Andrew: Yeah, very common.
Elvira: And what's interesting with this SNP picture is that we then see, the people that have done that, and then gone around the complementary therapy circle and say, "Complementary therapy has not served to me. What else is there?" And then we go, "Well, look, let's go right back to foundations. And let's see if we can find something in your predisposition that might actually give us a clue as to what's going on."
Andrew: So, how did you guys meet? How did you guys begin to work?
Elvira: I just rocked up in the clinic.
Linda: That's right.
Elvira: I literally knocked on the door and said...
Andrew: You had a life lesson.
Elvira: ..."Have you got a clinic room to spare?"
Andrew: Was that it?
Elvira: That was it, yeah.
Andrew: Really?
Elvira: Yeah.
Linda: Completely serendipitous. Although...
Andrew: And what a melding of the minds.
Linda: But, I mean, this clinic is my clinic, the Family Wellness Center in Allambie. It's a very small practice of complementary health practitioners. My daughter and I are the directors of that clinic, and she's an acupuncturist and TCM herbalist and has a fertility practice as well. And Elvira happened along, and yeah. So thank you, universe.
Andrew: And is that when you were introduced to this new science, this new way, this new thing called SNP testing?
Linda: Well, this was a broadening, and I was certainly ready for that broadening point of view. Because even, as you know, even with nutrition, sometimes every, you know, you can have the best nutritional plan, it doesn't work for everybody. And I'm curious. I'm really curious about why that is.
And usually, you know, people who might be diabetic or have cardiovascular disease or non-alcoholic fatty liver, they'll come, and they have been through, you know, every doctor, every specialist, still have no answers. And so, it really is, it's another part of the information that we feed into. Yeah.
Andrew: We have these treatments given on a population basis, you know, it will work for most… X number of people, which is hopefully most of the people. But then, there's always these people outside of that for which any given treatment will fail. Is SNP-testing...and I dislike using that term, how would you term it? Would you say epigenetic?
Elvira: No, no. No. I think there's a misunderstanding between SNPs and epigenetics for start. So, SNP is just a single letter gene change within a gene. And that can change the way that protein is formed, so it can cause a pathogenic problem. Hemochromatosis is one of them, although you need two copies to have been changed. Common in the population generally, the ones we look at.
It can also be a benign change which means nothing to the gene. It creates the same protein, it does the same function. Who cares? It's a spelling mistake that gets overlooked.
Andrew: So, eye color?
Elvira: Yeah. Well, not even. It can just be exactly the same product, exactly the same enzyme. It can have no real variation to the product of that gene if it's just...the body knows what you're talking about, and it makes the same end result.
Andrew: So it reads over the mistake?
Elvira: Yeah, yeah.
Andrew: And it says “I get it.”
Elvira: So, some SNPs are benign, some SNPs cause a problem, some SNPs just cause a predisposition for a problem, and some we actually don't know very much about at all.
So, that's one thing. I guess I also have to say that SNP's only one thing that genes can do when they have errors in them. And we're only looking at one small percentage of the changes that can happen within a gene, and it's important for practitioners and patients to know we're not looking at everything.
But also then over that, we have epigenetics which is the turning on, turning off, the patterning of those genes. And that they are different things. So, you can have the gene mutation, but then you can have an epigenetic overlay. And often I see people getting confused between the two. They think SNP testing is the same as epigenetics or vice versa. And epigenetics is really how it's behaving, how it's expressing, how is it responding to the environment?
Andrew: So, is epigenetics more to do with, let's say, the example that I seem to recall in my dim, dark history of horses that were fed a zinc deficient diet and they had fetal abnormalities, like cloven hoofs in the offspring. Which took two generations to correct itself once the nutritional deficiency was corrected in the feed of those offspring.
Elvira: Yep. Yep, and…
Andrew: That's epigenetics.
Linda: Yeah. And things like trauma. Three generations down, we can say that inflammatory genes are still up-regulated because the patterning has said, regardless of mutations within the gene, we need to keep this gene running fast because we're in a state of threat. From a trauma that happened to your grandmother or your great-grandmother, and that can be passed down. And that's the epigenetic patterning.
Andrew: So, it's not just the offspring of a mother, it can go generational?
Elvira: Yep, yeah. So, we used to think three generations.
Andrew: Yep.
Elvira: We're now saying epigenetic change is seven generations.
Andrew: Wow, jeepers.
Elvira: So, who knows? It's really, it's an evolving field. So, we're going to learn more and more about it.
Andrew: Offering more and more conundra.
Elvira: Absolutely.
Linda: Well, but really bringing us all back to the idea that you need to treat the whole person as they sit before you. And...
Andrew: And this is the big danger when you see a nail, you suddenly become a hammer.
I've been so blessed, I think, to be educated by Denise Furness who very cautiously said, "We should always treat the person." But, you know, the SNP doesn't necessarily mean there's an issue. But I do believe there is that real danger when somebody sees that red flag or potential red flag, they'll treat it though it's a red flag.
Elvira: Yes.
Andrew: So how do we pull back? Well, I guess we need to start earlier, direct to consumer DNA testing.
Elvira: Yep.
Andrew: Do you think it's appropriate, or do you think it always needs the practitioner involved?
Elvira: Personally, because I come from a genetic counseling background and we are, you know, the idea of informed consent is bashed into our heads from the get-go. I think any testing, any genetic testing needs an informed consent process. 23andme will say they do that on their screen, but nobody reads all the gumph. They roll down to the bottom and click, "Yes, okay."
Andrew: Of course. Yes.
Elvira: And so, I think that the practitioner… I think it should come through a practitioner. I don't think people get a lot of success out of DIY health programs, in terms of SNP testing. It's too complicated. There are too many variables, go and see somebody who knows what they're doing.
Andrew: Yep.
Elvira: Having said that, I think if you can do an informed consent process and you know the benefits and the limitations of SNP testing, it can be incredibly useful. And what direct to consumer testing offers is a very cheap way of getting a lot of information.
Andrew: Yeah.
Elvira: It's not all the information, but it's a lot of information and that can sometimes make the difference between finding a solution and not finding a solution. So it's a tool for job as much as anything is.
What I do say to practitioners though is, I'm passionate about genetics and complementary medicine coming together because that's really where the power for prevention and genetic care comes in. Otherwise, it's just an academic exercise. If you could just come and see me, I'll tell you what you've got and it's an academic exercise. And who cares? It needs to be implemented as a strategy. If that can be done in a cost-effective, but also ethical way, fantastic. Let's do that. But just be aware of the limitations of that.
Andrew: So, Linda, in your experience, have you seen any examples walking into your practice of those limitations? Of people who've become alarmed given that information?
Linda: Sure. And, you know, good old doctor Google. Everybody's actually running around in a hypersensitive state out there once they look through that.
And, you know, part of the work that I do is the, "So what?" I mean, so Elvira does the informed-consent process and the genetic reports, goes through the report, and then they come and they see me. And together we are both very, very conscious of people who are reading far too much into this. Because they've done, you know, they said, "Oh, I've read these experts’ website." And we've even had people ring us from Adelaide, you know, so stressed out on methylation, and so, yes. People get really, really stressed and we're very, very careful.
From my point of view, what I deliver is the, "So what?" That is, "Well, this is how, you know, can I see these manifesting in you?" And sometimes it's no. And here are the lifestyle things you can be aware of that may mean you never know that. I mean, when you think about methylation, that percentage of the population has been running around with it all this time...
Andrew: Still surviving.
Linda: And a lot of people will never know depending on what their lifestyle and their stress and their environment and their toxic exposure, depending on all of those things.
Andrew: I’ve got to say you've just tweaked one of my little ponderings in life. And that is...
Linda: Only one, Andrew?
Andrew: I am an...
Elvira: We have to lift our game.
Andrew: ...exasperatingly curious person. But I have this sort of whimsical notion sometimes about if we were all "perfectly treated", if the kids with behavioral "problems" were optimally managed by medication-lifestyle-diet, and therefore didn't have an issue, would we have Clint Eastwood? Because he was expelled from high school for smearing jam on the principal's car.
Elvira: Would we have Einstein?
Andrew: Would we have Einstein?
Elvira: We can spend an hour going into the ethical dilemmas of all of this and of what you do. And, you know, there's simple ethical, not so much simple, but in terms of methylation. If you have MTHFR, and you have reduced folate metabolism, you are at...its associated with an increased risk of miscarriage. Because there's a lot of methylation activity involved in creating a baby. If you optimise the mother's methylation, you increase her chance of a pregnancy of another child with a methylation issue.
So, where do you stop with that? It's a whole ethical dilemma. And I think that's where you then go if there is informed consent, and we have spoken to the client about the issues around this, and they make a choice, then that's their choice.
Andrew: Is that always carried on, though, in the offspring when you've got another...
Elvira: No, not always. You know, it's...
Andrew: Gamete coming in?
Linda: Yeah. It's going to inherit half of the genome for mum and half the genome from dad.
Andrew: So, there's no preponderance. There's no sort of stronger gamete? Women will always argue.
Elvira: Well, it only takes one of ours, and thousands of yours!
Andrew: Ahhh, I knew it.
Linda: I'm not going there.
Elvira: No. It's classic Mendelian inheritance for that one.
Andrew: Yep, yep.
Elvira: But there are issues that come up with this, and they're interesting issues. And have we solved them? We haven't solved them. In most aspects of genetics.
Andrew: But I would bring into there medication as well. We're keeping alive a whole population of beings that would not otherwise have survived and have procreated because of medicines that are keeping them alive and therefore passing on those sick genes to an offspring which is going to further the issue and cause more costs and things like that. So, it depends on where you want to draw the hard line, you know.
Elvira: Yeah, yeah, and look, eugenics is something…
Andrew: Planetary specialists will choose animals over humans.
Linda: But it's interesting to think about this from a personal perspective. In a way, individuals are making those decisions, either informed or not informed, every day.
Andrew: True. Very true.
Linda: And so, having them have the best information available to them so that they can make those decisions is really, really important.
Andrew: What have you found, Linda, the variance of the subjective experience of the client? You know, where, for instance, Denise, again, speaks of a lady that was hysterical with worry about having this defective gene and passing that on to her baby. And she had to say, "Whoa, back." This is information that's not necessarily expressed and there was this real “Hang on, who's been talking to you?”
Whereas, other people might go, "This is great information. I carry it around with me anyway, like my keys." So what's the variance that you've seen with people who have gotten, a) direct to consumer genetic testing, and b) informed consent?
Linda: Yeah. Well, we, I mean, you certainly do get a lot of people who come in who just want to give me the quick answer, "I just want to be here once, why do I have to go through the process?" And we actually have a very strong process.
But this is the other part of the work I do is that, you know, I am a wellness coach, we definitely look at the psychosocial aspects of it. If it's, for instance, BRCA1, BRCA2. We don’t. We would refer them to familial clinics where they are treated appropriately.
I definitely, we've had people come to us and say, "You know, my mother's dying of dementia or Alzheimer's, I really want to know what my status is." And then we go through a very clear process of exactly what that is. And then I spend a lot of time, a lot of time, talking about the latest research on that. And the kind of Dale Bredesen stuff coming out of the states that says 95% modifiable, right?
Andrew: Yeah.
Linda: And don't wait until you're 70 by the way.
Andrew: No, that’s right.
Linda: Start today.
Andrew: Yeah.
Linda: So absolutely. But people come in, you know, upset about methylation, or they will think, "Oh, finally, Now I know. I've got six..." you know, "I got the 677T, and that answers everything." And then, they'll be put on folate, and a month later, you know, in the first month they feel great. A month later, they come back to me and they say, "I've become obsessive compulsive."
And so, I'm very much looking at the...and very, very careful about the way I explain the process.
Andrew: So, this becomes another one of those hammers, doesn't it? You now have isolated a potential issue. And that therefore, subsequently, is always blamed, for any issue relating to that SNP.
Linda: Yeah.
Andrew: So, "Oh, it's my genes. Oh, it's my 677T..." "Ah, don't worry about that." It's not to do with the stresses that you can't all right. It's to do with that SNP.
Linda: Correct.
Andrew: So, again, how do you wend your way with this…?
Linda: Well, I have to use...I use a counseling process. But we really do test whether or not that's really the issue for them. And I will start with food.
Andrew: Yep.
Linda: And I will start with stress levels. And so, you kind of, even if you listen to Ben Lynch, he kind of says, "Don't methylate straight away." Do not give, you know, tetrahydrofolate straight away. There are so many other things you should approach it through first.
Andrew: Yep.
Linda: And see if you can get all of the pathways working normally. And then if you must, then do it.
Andrew: Yep.
Linda: And that's quite hard because people are used to going to a GP who says, "You've got this, here's the pill."
Andrew: Here’s a pill, yeah.
Linda: And kind of saying to them, "Well, you know, I can give you a pill, but, you know, do you want to be on it for the rest of your life? I'll actually show you a whole series of lifestyle things so you may never have to have that pill."
Andrew: So I've got to ask there, given that we have a preponderance for convenience, hence our obesity issue, hence our cardiovascular issue, our dementia issue, in our society, how effective do you find the implementation of lifestyle strategies? Do you have to really sell it to them to say, "Hey, listen, you know, you can take a pill if you want. And you can do this sort of juggling act." Or do you really have to say, "Look, we really need to do this first?" How do you get it across? How do you get the message across?
Linda: Well, I mean, that's actually the approach I'm taking through positive psychology and health coaching.
Andrew: Great.
Linda: And so, it's not about having the right technical answer, the right genetic answer, knowing and being able to pinpoint, looking at the diet. In the end, I can have the best answer, give them the best diet. We know that, you know, research tells us that when you lower refined carbohydrates, this will happen. If that person can't implement, because they actually are not hooked into the outcome or the goal, forget it. And that is the...you know, there is a big movement towards health coaching now, and it is another skill that we all need. And even as a nutritionist, I thought I had a reasonable amount of it especially because I have...I'm a master NLP practitioner and a clinical hypnotherapist as well.
But, actually being able to have the client see that the goal is theirs, they have a positive emotional attachment to that goal. And seeing them on a regular basis. So, kind of saying to a client, "Well, you know, I'll see you in a month or six weeks." It's too long. The biggest changes are in the first two weeks, even if you're not changing a lot of things. I always do the Michael Ash thing. I change three things. I take three away. I give them something. And then I want to see them in two weeks.
And that conversation isn't about are you complying with what I have told you, is the answer. But it's about what's working for you.
Andrew: Right.
Linda: What isn't working for you? What doesn't fit your lifestyle and your family and your job and the hours you sit in traffic? What's not sustainable?
And that's the difference between taking all of the information and actually them being able to implement and putting them back in charge of their lives. This era of convenience, actually, in a way, they're giving that responsibility to somebody else.
Andrew: Yes. That's exactly right.
Linda: And that's why these things don't...that's why, you know...
Andrew: Wholly a multinational.
Linda: Yeah. That's why we have the problem we have. Yeah, I am sending people back into the kitchen. That actually is easy, yeah.
Andrew: Yeah. Elvira?
Elvira: Yeah. I guess, I just want to make two points on that. Often we actually don't see people that are wanting the quick fix, because I've already tried it and it didn't work.
Andrew: Right, got you.
Elvira: So, we're seeing people further along that journey. They are just after something that will work, and if it means that they have to dig a bit deeper, work a bit harder, nothing else has worked. So why not try that?
Andrew: Yep. Yep.
Elvira: I think in terms of expectations though, it starts right at the very beginning. And I do like access to direct to consumer testing, but I don't like people ordering it necessarily on their own.
So, if they talk to their practitioner first, and the practitioner can say, "This is going to give us a window into what sort of a blueprint we're working with." But this is nothing if we don't know what your lifestyle is, what your activity is, what you...So, I come from a very, very...I'm a practical person essentially, and I like common sense approaches. So when I first see them and I talk about their family history, and I talk about what the gene test can and can't do, and I pull back from that idea that genetics is sexy, and MTHFR is the be-all and end-all of every...that's my pet hate, this superstar single gene, that answers everything…
Andrew: Sorry, but it sounded like a T-shirt, “Genetics is sexy.”
Linda: That's our copyright, by the way.
Elvira: Yeah, yeah, hashtag.
Andrew: Yeah!
Elvira: We've got to pull back from that and say, “It's just yet another tool for a job”
Andrew: Yes.
Elvira: I believe that genes work with food, and so that's why the partnership with Linda is so crucial to the way that I want to deliver genetics.
That the whole power of this is that we can modify the activity of some genes, not all the genes but some genes, through our activity, through our lifestyle, through our diet, through our choices. That puts the control right back into that patient's hands from that first consultation before they've even spat in the tube.
And I'll be right up front with them, "It's not going to do anything for you unless we implement some changes. Are you up for that? I'm going to book you in with Linda who's going to ask you about the food that you eat. And we're going to look at these different aspects, this whole model of you not just your genes. Are you up for that?" And if they go, "Well, actually that's not what I'm after," then that's absolutely okay. But their genetics is not going to really offer them anything other than fulfill some curiosity.
Andrew: Right. So this was going to be my next question.
Elvira: I tend to find that people go, "I'm up for it. Let's do it. I want to see a change."
Andrew: Given that we really need to be concentrating on lifestyle management, diet management, dietary interventions, even, before offering a pill. Why should we need to rely on the SNP to manage our patients, given that we're using these lifestyle interventions anyway?
Elvira: Yeah. So, generally, people are not using the lifestyle interventions very effectively. And so, when I first see them and they spit in the tube, then I say to them, "While you're waiting for your results, how would you feel about doing some slow deep breathing? Increasing your water intake? What's your sleep like? Do we need to talk to Linda about your gut health first? Because there's no point in us giving you anything down through your mouth, if you're not absorbing and assimilating it.
So where's your gut health sitting? What are your stress levels like? Where do we need to support foundationally so that we can build on this?" But also keeping in mind that we're seeing people that are at that chronic and complex end of the picture. So those normal lifestyle patterns may not have worked very well for them in the beginning. But it's important to know that they still need to try and build on that first. So let's keep common sense in there.
Set some foundations. Then come in with the question, "Well, what is actually expressing?" I think Mark Donohoe said the other day on one of your other podcasts, “It's like knowing where the trap doors are.” It doesn't mean the trap door is open. And I think that's a great way of looking at it. Just because you have the SNP doesn't mean that it's expressing.
Andrew: But you might walk more gingerly across that trap door?
Elvira: But you may choose a different path through that room. And so, what is expressing? So, looking at the symptomatology and looking at their diet, and then bringing it all in together. And that's where it has value. In and of itself, if you just choose a SNP and then you choose a supplement, it's a pseudo-pharma approach to health care. It won't work long term.
Andrew: Do you find though, that when you have the SNP...or let's reverse that. Let's say you're doing the lifestyle intervention first before you find out about the SNPs. And let's say it's improving mood and behaviour in a child.
And then you decide to do the SNP testing, and the patient, whether they’re aware or not, but they have gotten informed consent. Do you find that that intervention always fits the result that you get?
Elvira: If the intervention was working?
Andrew: Yeah.
Elvira: Pretty much. I can't think of a time when a working intervention has not fitted the profile. Now, keeping in mind that we're actually looking at pathways, we're not looking at single SNPs. And we're looking at a report that gives us over 18 different pathways. So, we're looking at the interaction between those pathways as well. So we're never looking at just a single SNP.
Usually when somebody says, "This is working really well for me," I can look at their report and go, "Oh, I can see why that would be helping you." Equally the reverse of that, I can get the report and say, "So, these are the things that are associated with this sort of a picture, with this predisposition to inflammation and oxidative stress and poor methylation." And they'll go back, we'll sit back down with the family history, and I go, "Oh, my God. That explains why Aunty Betty couldn't have children, and this guy's got depression, and this kid's got ADHD, and all these things." This explains the predisposition in the family to this. It's not a cause, it's a predisposition.
Andrew: It's a predisposition.
Elvira: Yeah. So you’ve got to work on the predisposition.
Andrew: So, but I guess the cover-ups might happen where, you know, Aunty Mabel never had an issue, but of course she had the better lifestyle. But you don't know that.
Elvira and Linda: Exactly.
Andrew: You just know that she lived longer.
Elvira and Linda: Yeah, correct.
Andrew: On ancestory.com.au. Who also do generic testing now, I note.
Elvira: Absolutely. They all do it, and they cannot calculate your ancestry without doing a big zip file of data.
Andrew: Right.
Elvira: And then we take that zip file of data and say, "Thank you very much," and interpret that in a functional pathway perspective so that we know what we're working with.
Andrew: Got you.
Elvira: We're not at all interested in disease predisposition per se. But at a functional level, what can we support and what's working well so that we can actually enhance?
But I can give you an example of where the MTHFR gene result has actually taken somebody down a very difficult route.
Andrew: Yes.
Elvira: A woman was found to have very high histamine levels, very itchy dry skin. It was really uncomfortable for her, Linda, you can probably add to this. There is a belief that if you are under-methylating you will have high histamine. Which definitely can occur. So the GP knew about her MTHFR status as a single gene result, and said, "You’re undermethylating. I want you to go and take these supplements and we're going to enhance your gut health by giving you a whole heap of fermented foods."
And she went, "Great. If some is good. More is going to be better."
Andrew: Yep, yeah.
Elvira: So she was eating a lot of fermented foods. When I saw her and I was taking her family history and getting a bit of a picture of what was happening I said, "Sometimes people can't tolerate fermented foods. How would you feel about pulling back on that a little bit while we wait for the results to come through and I'll talk to Linda about how we can support you gut healthy in other ways?" Like stewed apple, like the resistant starches, like those things.
Andrew: There’s that stewed apple again. Like and I thought it was only Mark Donohoe!
Elvira: No, everybody gets stewed apple in our clinic. Absolutely. Thank you.
Andrew: Damn you, Mike Ash.
Linda: Yes, thank you. Thank you, Micheal Ash.
Elvira: And it came back that yes, she did have some hiccups in methylation, but she had a very poor histamine pathway.
Andrew: Right.
Elvira: So while she...
Linda: Like, a disastrous histamine pathway.
Elvira: She was trying to address a histamine issue by histamine-creating foods in a pathway that couldn’t cope with that.
Andrew: It wasn’t working for her, yeah.
Elvira: When we pulled that out and we took a different direction because we actually had a full picture, or I shouldn't say a full picture. We had more information. When we had more information we could say, "This pathway does not work for you. Let's pull back and try something else." We got results. So, you need to broaden it out and also look at the whole person.
Linda: Andrew, I don't know if you've ever seen that, you know, that amazing one-pager that shows all the different biochemic….
Andrew: Boehringer?
Linda: Yeah. Our bodies are...
Andrew: Rather humbling.
Linda: Yes. Our bodies are clever. And when you're playing with one SNP, you're one little dot on that chart.
And even with MTHFR, you know, like people will...they'll be able to go along for years, never know they've got it. Then stress, lifestyle, toxins in their life suddenly...
Elvira: Bit of extra alcohol.
Linda: Yeah it…
Elvira: Get those folates up…
Linda: Yeah. You know, it shows its head. And because the body actually says, "Well, I can borrow from there, and I can do these here, and I'll move this around," and whether it's magnesium, zinc, or anything else, the body is very, very clever.
And part of people, you know, not understanding that biochemistry pathway as a biochemist, but actually knowing that there are many ways to bring the strengths forward.
Andrew: Yeah.
Linda: And food's the one you do every day, 200 interactions with food every day.
Andrew: That’s right.
Linda: That's powerful.
Andrew: Somebody a few months ago said 18 tonnes throughout your lifestyle. I looked down at my tummy and I thought, "Maybe 20."
Elvira: Giving it my best shot.
Andrew: For our listeners, by the way, what we mentioned before was the Boehringer biochemical pathways. However, it is online now. I don't think it's in print. But you can find it. If you just look up "Biochemical Pathways of the Human Body" and it's by La Roche, as in Roche Pharmaceuticals.
So moving on from there, just thinking about how patients get it, get the SNP. Like it's taking me ages and I haven't fully got it. I think I've got it. I go, "Yeah. No worries, clunk." And then I walk out the room and I go, "I ain't got it."
So, and I'm a nurse, I'm reasonably intelligent I'd like to think? My wife might gainsay me on that one but, you know, like I'm no dummy and it's really taking me some undoing of preconceptions. You explained one right at the beginning about the SNP and the epigenetics. What are we talking about here? So I'm not still not getting it even though I think I am. How do patients get it? Linda?
Linda: Well, this is the important thing, is that, it's that's the ‘so what?’ And some people like a lot of technical information, and then Elvira's the one for that. Some people want to know, "What do I do about it?" And that's all I want to know. And you kind of, again, you're treating the person.
If I was to sit there and give a person who only wants to know, “So, does that mean I have to have more kale in the morning or not?” If I try and give them a technical information, they'd glaze over like that and I've lost them. And so, to keep them engaged, it's really important to be communicating to them in a special way.
And look, I think that when you get into genetics, the terminology is, you know, like it's pretty exciting. And I mean, I really do get very excited about genetics and the genetics, you know, revolution that's going on. But my clients aren't there. And I could spend an hour talking to them about that particular SNP. When really what they want to know is, there's heart disease in my family, I've got high cholesterol, I eat a Mediterranean diet, what's going on?
So, that message is delivered in a different way, because, you know, it's about oxidative stress and a whole lot of other things. And, so sometimes, I wouldn't use oxidative stress. I wouldn't use that term. So it's about the way you communicate with your client. And therefore, you are treating that person as they're sitting there, educating them to their level that they need to be educated at. And you need to be really, really sensitive to that. And sometimes we have to put our intellectual egos aside while we do that, and be very, very sensitive to them.
Andrew: Yeah. Elvira, I've got to ask you a different question from what I asked before. And that is, I'm not sure that we here yet, because I think we need vastly more data than what we have longitudinally. And that is, have you ever encountered...is there any research that has already been done, looking at appropriate, dare I use that word, appropriate management of a certain SNP, a certain deficiency, and not having the optimal outcome failing?
Elvira: Failing, yes. And I think that's why it's important to, if you're going to go into this area, to try and be at least moderately on top of the research. I update my report every six months at least. Because you'll see reports that come out that say, "This is a really good SNP and it's associated with cardiovascular outcomes." Six months down the track, people have tried to replicate it and it's changed. And there are certain SNPs...
Andrew: Indeed I’ve… Forgive me, but I've seen actual like contradictory information while on a SNP.
Elvira: Yeah. And so, I think that's, for a start, we have to pull back from disease association so predominantly. Because there are so many other factors involved in disease. But also you need to be really upfront with your client to say, "This is early stage management." Like, "We're working this out as we go. There's a lot we don't know about this." And you have to be really comfortable saying, "I don't know." Or we don't know. We don't have the research there.
But, is there good research on some of the SNPs? Absolutely, yes. So, use them, use what we know about them. You know, I know MTHFR reduces folate metabolism. There's no problem with that. It's a very clear-cut relationship. How that manifests in terms of disease, that's a whole different story. But in the meantime, while we're working that out, we can get a client in front of us and enforce the message that it's important for them to eat their veggies, to drip feed some folate in every meal so they're not overwhelming earlier enzymes and genes that need to convert it.
So, there are messages that can still come through that are really important and do lead to clinical outcomes. But is it what we would call evidence-based yet? No. Pharmacogenomics is not evidence-based yet. It's still early stage. And early adopters are happy to go with that if they're told.
Andrew: Yeah. So, I think the ethical stance would probably be, correct me if I'm wrong, we have this information. All of us carry around that information whether we know it or not. We all need a reasonably healthy lifestyle, whether we need it specifically or not relevant to our information that we're carrying around with us.
Once we have that information, it should always be primarily relating back to optimising that diet, that reasonably healthy diet which you should be undertaking anyway. And tweaking it in ways which might beneficially help or optimise, if you like, the pathways which those SNPs affect.
And very lastly is the word supplements. Unless we want to be little doctors, we should use food first and supplements, if needed, if required, down the track, once we might find a potential need for it. Is that… Am I correct in saying that? Or would you tweak it?
Elvira: So, I think first of all, I don't believe that evolution designed genes to work on tablets. And secondly, we've got a microbiome that does a lot of heavy-lifting for us, and actually speaks to our own genome. So the genome in our microbiome speaks to our human genome, and use that.
So start with food, start with the gut. Start with common sense things, and then supplement as needed. And people that are chronically unwell or have had a restricted diet may need those supplements, but we never look at it as a long-term strategy.
Andrew: Do you think, Linda, that we will get to the stage where we'll be looking at the microbiome and how it interacts with our genome?
Linda: Oh, I think that work's already going on. I mean, anything to do with functional medicine...I mean, David Perlmutter talks about that now, and he says that work is going on. And that's what's so exciting is that, you know, at the moment we have a piece of the information. We don't have all of the information. But there are opportunities to help people be well. That's what I'm interested in, help them be well. And sometimes that requires, you know, a transition. And so, you know, I'm not going to hit them on the head with the strictest of diets, and they've got to be able to implement. But I'm really looking to the whole microbiome area, is so exciting.
Andrew: Oh, yeah.
Linda: So exciting. And so, again, when it comes to the issue about supplements, I, you know, I would give someone supplements if I they had high homocysteine, I would do that, okay? And especially if they've got heart disease in their family, right? Regardless of what a particular group in Australia think about that.
And we know that people have problems with magnesium, in our… if they're in high-stress environments. But it really is about allowing them to find the way to live a managed environment that works for them. Now, if they've got, as Elvira said, we do pathways. And so, we really look at inflammatory pathways. And that is, you might not have MTHFR or any of those other ones that we all know about. You might not be coeliac, but your inflammatory pathways, if they're really challenged, it shows up in lots of ways in your life. And...
Andrew: Right. Absolutely.
Linda: And that's when the microbiome becomes really important if you have a weakness in those inflammatory pathways. And so, yeah, you know, bring it on. You know, I hope I'm going to live for another 100 years because it's going to be so exciting.
Andrew: Yeah, it's frustrating to me too. But, you know, the salient point that I take from what you're saying is, "Yes, these inflammatory pathways are impacted. But how do we manage them? Painting? Music? Movement? Love? Diet? Mindfulness? All of the things that we did 30 years ago. And maybe, ethically, we might hopefully in the short term, not the long-term, otherwise we're just swapping a pill for a pill, but we might intervene with some natural therapies, like, for instance, curcumin or, you know, some relaxing herbs or something like that.
Linda: Yep.
Andrew: And that, I think, is the message that...it gives you the information. It gives you like a target. Target isn't the right word. It gives you a heads up as to what your potential issues might be...
Elvira: It gives you a heads up on potential issues. It does give you potentially an explanation for existing issues.
Andrew: Right, yes.
Elvira: ...for people coming in wanting a solution. And, look, I think you've got to come back to grassroots lifestyle management things. I mean, they've been there for thousands of years because they've worked for thousands of years and we're built to work that way.
I have to say though, coming back to healthy diet. If you ask anybody that comes in they'll tell you they're eating a healthy diet. And what is healthy for one person may not actually be quite what they need. So, it might just be a little bit of tweaking, of adding in some more Omega 3s, of adding in more folate in the diet of, you know, Linda can speak to this more so.
But the interpretation of what those, you know, 'How are you sleeping?" "I sleep pretty well. I go to bed at 1:30 and I'm up at 5." But in between, I'm out like a light. Okay so you've been knocked out.
Andrew: Wake up. Wake up, tired.
Elvira: Yeah, yeah. And I wake up tired but I'm okay. Yeah, because that's normal. So, I think you do need to dig a little bit deeper.
I think that people are innately curious about themselves.
Andrew: True.
Elvira: So, they do like to see a report, and we use visual representation a lot. So it's a very quick visual system. They see their traffic light reports of reds and oranges and greens and they can very quickly see where they've got strengths and weaknesses. We plot it out on a pathway. So they can see where that hose is being kinked. And I use that metaphor a lot, particularly with folate.
And then when you say so, if we want to work with this, what we want to do is increase these sorts of things in your diet, maybe do some resistance training rather than some aerobic training at the moment while we pull your inflammation back down. Have you done any meditation? "I haven't done it for 20 years." Okay, come back to that. "I used to love it." Great. Do what you love. You know, eat food that you enjoy. Come back to those things.
When they say that lining up with their genetic predisposition to the extent that we know it at the moment, it's very compelling.
Andrew: Yes.
Elvira: And it makes a lot of sense. And I hear the, "Oh, my God. That makes so much sense," a whole heap more often. But it also then means they've got a reason for it. And that's the biggest motivator. They understand why that so-called healthy diet is actually healthy for them, yeah.
Andrew: Linda?
Linda: One of the most annoying things I ask people, and is when I go through, you know, they do a journal for me. I actually get a seven-day journal, and I use the Institute of Functional Medicine Journal. Because it actually gives me their sleep, their moods, their stress levels, how much support networks they have in their environment. It gives it all to me on one page, times seven.
And the most important thing when we look at it is I'll say to them, "Oh, so, you're doing X, Y, and Z? And I can say that you, you know, you had six hours sleep, but it was all poor, and you woke up tired. As a strategy, how's that working for you?" And it's kind of like the, "Oh, you mean that's a strategy I can change? Or, "Oh, is that..." And they start joining the dots. And so, people actually looking at, well, realising that they had choices in their life.
The big difference between now and 30 years ago though, Andrew, is that, we actually now have science supported by functional MRI, that show and prove that the power of meditation. And we, you know, 30 years ago, it was ‘that weird hippy thing’ that...
Andrew: Hippy thing.
Linda: ...that people used to do, or, you know, Buddhists used to do or whatever, but it had no real meaning in people's ordinary lives if you were an ordinary Aussie person.
But now we know that's all different. And so, we do have a whole lot of science that now supports these lifestyle changes. Especially in knowing that it lowers inflammatory cytokines. And that, in terms of reactive oxygen species inside the body, is enormous. I mean, NAC and glutathione are fantastic, but, "Wow, what if you could have three or four strategies?
Andrew: Oh, yeah.
Linda: It would be fantastic.
Andrew: I'd love to see more research out from Swinburne University with Professor Con Stough and Andrew Scholey. These guys are ground break, doing groundbreaking stuff with, you know, functional MRIs, and...what's other one? I can't remember what it's called. But basically showing real-time actions on an intervention. I mean, that's just so elegant.
Linda: But the amazing thing for me, is, you know, when doctors say, oh well, you know, well, you know, like, "Oh, yes well, you know, I think I'll prescribe that now.” I kind of think, well, you know, thousands of years ago, the Buddhists knew this worked. It's just that we weren't smart enough to have an MRI technology that could see it. But it was just as true then as it is now.
Andrew: Yeah. Just like eating an apple is, a stewed apple.
Linda: Stewed, with cinnamon.
Andrew: Dr Elvira Zilliacus, Linda Funnel-Millner, forgive me for stumbling on that. I truly thank you for joining me in the studio today, and at least enlightening me. And I've got to say, I will be shaking my head going, "Did I really get that?" I will have to listen and listen again to this podcast to make sure that I truly get the message.
But I urge listeners out there to delve in responsibly to the area of genetic testing so that they can appropriately counsel their patients, always being mindful that lifestyle and diet is first, and that we should be managing them holistically.
So, thank you so much for taking us through those important points today on FX Medicine.
Elvira: My pleasure.
Linda: Thanks, Andrew.
Elvira: Thank you.
Andrew: This is FX Medicine, I'm Andrew Whitfield-Cook.
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