Genomic Testing with Valentin Prisecaru & Jeff Ingersoll of Diagnostic Solutions: Rational Wellness Podcast 342
Podcast: Play in new window | Download | Embed
Subscribe: RSS
Valentin Prisecaru and Jeff Ingersoll discuss Genomic Testing with Dr. Ben Weitz.
[If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.]
Podcast Highlights
5:02 Genetics or the Human Genome refers to the genetic code that is made up of only four letters, A, G, C, and T and this code about 3 billion letters long. The majority of the genome is still kind of a mystery because we don’t know exactly what it does. But we do know about 20 or 30,000 genes that code for proteins or for RNA or a few other things.
Valentin Prisecaru is a scientist who with Dr. Peter D’Adamo helped develop the Opus-23 platform that is the basis for the Genomic Insights, the Genomic Health Profile offered by Diagnostic Solutions Lab. Diagnostic Solutions Lab web site is DiagnosticSolutionsLab.com and the phone is 877-485-5336.
Jeff Ingersoll is the President of Diagnostic Solutions Lab, which besides the Genomic Insights profile, offers my favorite stool test, the GI Map, a cytokine panel Cyto DX, an organic acids profile, an amino acids profile, as well as food allergy and foods sensitivity panels.
Dr. Ben Weitz is available for Functional Nutrition consultations specializing in Functional Gastrointestinal Disorders like IBS/SIBO and Reflux and also Cardiometabolic Risk Factors like elevated lipids, high blood sugar, and high blood pressure. Dr. Weitz has also successfully helped many patients with managing their weight and improving their athletic performance, as well as sports chiropractic work by calling his Santa Monica office 310-395-3111. Dr. Weitz is also available for video or phone consultations and he uses DUTCH testing regularly.
Podcast Transcript
Dr. Weitz: Hey, this is Dr. Ben Weitz, host of the Rational Wellness Podcast. I talk to the leading health and nutrition experts and researchers in the field to bring you the latest in cutting edge health information. Subscribe to the Rational Wellness Podcast for weekly updates. And to learn more, check out my website, drweitz.com. Thanks for joining me, and let’s jump into the podcast. Hello, Rational Wellness Podcasters. Today, I’ll be having an interview with Jeff, who’s president of Diagnostics Solutions Lab and with Valentin Prisecaru about Genomic Insights, the Genomic Health Profile, which uses the Opus23 Informatics platform. And this allows clinicians to customize reports using an interactive dashboard that curates a patient’s genomic data in real time by using the latest medical literature databases and metadata sets, whatever those are.
Jeff Ingersoll is the president of Diagnostic Solutions Lab, which besides The Genomics Insights Profile, offers my favorite stool test, the GI map. They also offer a cytokine panel, CytoDX. They offer an organic acids profile, an amino acids profile, as well as food allergy and food sensitivity testing. Valentin Prisecaru is a scientist who, with Dr. Peter D’Adamo helped to develop this Opus23 platform. That’s the basis for this Genomic Insights profile. First of all, I thought Jeff and Valentin, is there anything else you’d like to tell the audience about yourselves before we start discussing this genomics testing?
Valentin: Well, Jeff can go ahead.
Jeff: Yeah, thank you. Thank you, Ben. I would say in full disclosure, I’m not the SNP expert, so Val will kind of carry this conversation. Yes, as a president of Diagnostic Solutions Laboratory, we have had the Genomic Insight testing available, and the Genomic Insight software was designed by Dr. Peter D’Adamo, specifically for our lab, to give the full realm of SNP information. It will give you 3,500 plus SNPs are evaluated and they’re in the software, but how you sort that can be up to you, but we also provide a dozen pre-curated methylation SNPs, cardio SNPs, just different versions that they can use in a pre-curated version. And Diagnostic Solutions also offers it as a data only file, if you would like to have all of the SNPs and use the Opus Pro software, which is Dr. D’Adamo’s kind of premier software. So there’s different ways that we can help with the SNP evaluation. And then, when it comes to interpretation, I leave it to the scientists.
Dr. Weitz: And Val, what more should everybody know about yourself?
Valentin: Well, hey, that was a really good introduction by Jeff. What more do people need to know about myself? I started working with Peter, we were trying to get some projects off the ground back in 2013, 2014. Finally, in 2017, he was telling me, “Hey, he already wrote this program.” I wasn’t around too much back then. I guess he coded it in 2014 and ’15. I came out finally in 2018. He said, “You really got to check this thing out. It’s been operational for a couple of years, and you still haven’t come out to Connecticut.” So I went out there. He trained me on it, and it was just incredible. I was very happy to be a part of his team. A few months later, he hired me part-time just to help him with some things on it. And I ended up being the number one editor for the program, just adding thousands of gene agent associations, SNPs genes, just a bunch of information. I’d scour the internet and load it up into the program. Then later on, I started teaching nutrigenomics for John Patrick University. Consulted with a couple other nutraceuticals and nut nutrigenomics companies, and now, I’m working with Designs for Health, which works with the Diagnostic Solutions Lab.
Dr. Weitz: So you’ve mentioned several terms. I think it would be a good idea to spend a couple of minutes defining some of these terms. So we have genetics, we have genomics, we have nutrigenomics, we have genes, we have DNA, we have SNPs, which is short for single nucleotide polymorphisms. Maybe just give us a little bit of information about what exactly we’re talking about.
Valentin: Absolutely. So the human genome is all the letters of the alphabet, and how many of them? So the alphabet has what, 26 letters. So in genetics, there’s only four letters, and really there’s only two letters because one always goes with the other. That’s just how genetics is. So you have A, G, C and T, and that’s your genetic code, and it’s about three billion letters long. The majority of the genome … it’s kind of a mystery. We don’t know exactly what it does, but we do know what certain genes do. So there’s like, just depending on who you ask, 20, 30,000 genes and these genes code for proteins usually, although sometimes they code for other things like pieces of RNA and some other stuff, which we can get into some other time. You have several thousand genes, and these genes are a bunch of letters long. They can be as short as, I don’t know, probably 50 or a hundred letters or alleles, letters long, nucleotides long and they can be a thousands of nucleotides long. And this information is used to make the proteins. Some of these proteins look a little bit different. If there’s a variant or a difference in a SNP, a SNP is a single nucleotide polymorphism. Basically just means a single letter change, but it’s very fancy, SNP. So if there’s … usually people have a C and maybe 10% of the population in this one location on your genome, instead of C, these people have A. The letter A and then, that protein, that’s where that mutation is or that variant is, well, that protein just doesn’t work as well.
So maybe that reduces the risk of cancer, but maybe it increases the risk of cardiovascular disease. So then you kind of want to know, “Oh, do I have the C or the A, because I want to know, should I eat an anti-cancer diet or should I eat an anti … heart healthy diet,” right? So that’s just a real, real simplification of the process, but it’s not too far from reality. So some people, they just have very high autoimmune disease risk. Others have more cancer risk. Maybe they have the BRCA gene. Others have a more cardiovascular disease. Some people, they’re just always getting sick. Always having colds, flus, et cetera, et cetera. So that can take a toll on the body. Based on these SNPs, of which there’s several thousand important one.
I mean the most important one, there’s probably just a few hundred that are relevant in the common person. There’s some rare ones that one in 10,000 people have it or one in 50,000. Those are important too. As far as for the average person, there’s a few hundred that are important.
Dr. Weitz: Okay, so my understanding is essentially when we run these gene panels, we’re focusing on these SNPs, these variants. And that gives us some sense of a person’s potential increase or decreased risk of certain diseases or understanding how they may process medications or how hormones may work in them or other things that can affect their health.
Valentin: Right. That’s right. So those are all the different, basically subspecies or subcategories of genomics. So genetics is kind of just looking at one gene. Genomics is looking at multiple genes, like the whole genome. So what we do is nutrigenomics. So it’s basically genomics regarding nutrition, but then there’s also pharmacogenomics. So that’s genomics regarding some drug interaction or if you have that one SNP, yeah, you can’t take this one drug because it’ll mess you up for whatever reason, so that’s pharmacogenomics. So there’s some overlap between the two, of course.
Dr. Weitz: Yeah, how accurate are these tests? I’ve heard that there’s some inaccuracies depending upon some tests over others. Are we talking about 99% accurate, or are there some tests that can come out with different results?
Valentin: Sure. Yeah. Every test is different, and most of the SNPs that are reported by most companies, they’re fairly accurate, like over 99%.
Dr. Weitz: Over 99%. Okay.
Valentin: Yeah, but there are a couple of SNPs in particular that tend to be a little bit error-prone. That’s one thing I like about Diagnostic Solutions Lab is that they actually manually check these four SNPs. So there can be no uncertainty. Instead of 99% plus, it’s more like 99.9999% plus. And the SNPs are COMT, which is associated with anxiety, depression, cancer, all sorts of things, dopamine executive function. Then, there’s also the APOE, which is associated with the Alzheimer’s.
Dr. Weitz: Right.
Valentin: So everybody wants to know, “Hey, I want to make sure this is correct.” And I think Jeff can tell you a little bit more. Yeah, that’s one of the great things about the DSL.
Dr. Weitz: Yeah, so the APOE … yeah, the most common is APOE 3 3, and if you have one or two copies of the APOE4 that puts you at increased risk for Alzheimer’s and possibly cardiovascular disease. Is that correct?
Valentin: Yep, that’s correct and having the APOE4, having one copy of it, having two copies, it’s not that good. It increases your odds of dying of Alzheimer’s from 4% to 45%. So it’s really, really changes things. Having just one copy, it increases dying of Alzheimer’s, I think from about 4% to about 8%. So it’s not a huge risk, but there’s benefits to it. If you have the APOE4, you have some increased maybe cholesterol issues, some cardiovascular disease risk, and of course, increased Alzheimer’s. You have improved clearance of fat because you’re able to … that same problem where you’re depositing certain fats in your brain for Alzheimer’s later in life.
Throughout your life, that improved clearance of fats reduces body fat. So people are less obese. Your APOE4, you have … it’s like a reduced risk of obesity and type two diabetes. And interestingly, type one diabetes and reduced lung issues like idiopathic pulmonary fibrosis, all these types of lung problems are reduced probably because your different organs don’t have as much fat deposited and probably runs better, your immune system probably runs better too, if you’re able to clear fat better, reduce risk of kidney problems, reduce chronic kidney disease, reduce fatty liver, reduce non-alcoholic fatty liver, pretty much every organ just runs better. If you got a copy of that E4. So I don’t even know what’s better,
Dr. Weitz: You’re saying this is one of the gene sets tend to prone to error in measurement.
Jeff: Possibly. So what you run into sometimes, when you’ve got multi allelic SNPs, it’s a little bit harder when you’re doing metagenomic reads. So you can do what’s called a direct measurement, which means instead of doing metagenomic reading, you’re actually targeting that gene and that position on that gene specifically and looking for … so you wouldn’t be able to run several thousand SNPs that way efficiently, but if you need to know for sure and kind of remove the uncertainty, you do it as a direct call measurement. And that’s what we do for those specific-
Dr. Weitz: All right. I see. So it’s like say, somebody who just wanted to know their APOE risk and their doctor added it to their LabCorp testing or something, that would be a direct measurement and that would not be as prone to the error that might come when you get a big gene panel.
Jeff: That’s right. That sums it up. Yeah.
Dr. Weitz: Okay. So let’s go into some of this genomic testing and how this can help with our risk for health and how this can help clinicians in evaluating and making recommendations to patients.
Valentin: So for the ability to make recommendations, it’s really nice to have a platform that can be easily … you can easily navigate it, go to different categories, look up different types of information. One of the better systems out there, in my opinion, is the DSL Genomic Insights test or the Genomic Spotlight tests and loading it up into the Opus23 program. You could search for any SNP, any gene, look up different associations. There’s a lot of panel-
Dr. Weitz: Do you want to show us some of it and help us to understand how this can help with understanding various aspects of health?
Valentin: Sure, sure. Absolutely, so can you see my screen right now?
Dr. Weitz: Yes.
Valentin: Okay. So this is … I just loaded up the main program. This is a list of all the algorithms in the program. So this is where you can look up just about anything. Risk of prostate cancer. Risk of hypertension. Alzheimer’s. For example, for Alzheimer’s, early onset Alzheimer’s, there’s some SNPs associated with that. I don’t have that one. There’s all these … this happens to be my personal file, increased risk of-
Dr. Weitz: What are these SNPs? Can we see what they are?
Valentin: Absolutely. So the early onset, I think this is the PSEN SNPs. Yeah. So PSEN1 and PSEN2 are these two genes for which some pretty good studies have been done showing correlation to early onset Alzheimer’s. So none of these … I don’t test positive for any of these. Some of these are kind of rare. I’ve had a few patients over the years, test positive for PSEN2. I think I had one PSEN1. So if you click on the actual gene, it’s really nice because it just turns into a pop-up, and you can look up all the SNPs in that particular gene and different agents that may help. Here, there would be S-Adenosyl-L-Methionine, SAMe. There’s some different … I think this is like thunder god, vine or something.
Thunder god vine, Tripterygium wilfordii, it’s just a traditional Chinese medicine ingredient. Vitamin B9, folic acid. So it kind of tells you what works on that particular gene, which is nice in … then there’s some protein-protein interactions, so associations with this protein to other proteins. So here are all the other proteins out of a couple dozen, thousand that are associated with PSEN. So it allows for some more advanced analysis. If you click on one particular gene, let’s say somebody has a risk allele here, it would come up here and it would say GC. So one copy of the risk allele and associated with Alzheimer’s disease. So some of these have lots of associations, 10, 20, 30 different items on the agenda and others don’t.
So it just depends which one. Here’s one. That’s a very nice one, increased risk of high cortisol when under stress. Do I get really stressed out? If I get really stressed out, yeah, it’s not very good. So I try to keep my stress levels in a manageable level. So for this algorithm, it talks a little bit about oxytocin, stress levels, the SNP. It shows you the risk allele, A. The client is AA, so that passes the algorithm test, so-
Dr. Weitz: So I’m confused. So this is saying that you do have risk?
Valentin: Yeah, increased risk from too much cortisol went under stress.
Dr. Weitz: I see.
Valentin: That happens because of this one SNP, I have both copies of the A allele under the oxytocin receptor, under this gene. We know what upregulates the oxytocin receptor, lactobacillus reuteri, that’s a big one. And also, life satisfaction, but you can’t put that in a bottle [inaudible 00:19:44]. I’m going to take two capsules of life satisfaction tomorrow morning. I’m going to be fine. I’m telling you right now, Ben. Dietary phosphorus restriction, that also upregulates, oxytocin receptor. Cold stress, hypothermia-
Dr. Weitz: Dietary phosphorus restriction. What a bizarre that is.
Valentin: I know. That’s some really weird stuff in here. I usually focus on the tried and tested more common interventions. There are different acupuncture, C4, T2, different manipulations. There’s a phototherapy recommendations. There’s a lot of stuff in here. A lot of diet gene lifestyle interaction.
Dr. Weitz: So overall, your risk … let’s look at your overall risk now here for the Alzheimer’s thing.
Valentin: For the Alzheimer’s?
Dr. Weitz: Yeah.
Valentin: For that one, I would probably go into Argonaut. Argonaut is an app-
Dr. Weitz: So what is all this that you’re going into? Is this part of the basic panel or this is part of the more advanced Opus23 platform?
Valentin: This is the more advanced Opus platform that kind of looks at disease risk and clinicians. There’s hundreds of clinicians around the world that use this. So here under the Argonaut app, we look at all the risk SNPs, right? So if I put in Alzheimer’s, all the Alzheimer’s associated risks along with the power factor, get brought up to the top. So here some of the higher risks for Alzheimer’s. Yep.
Dr. Weitz: Okay. Keep talking. The music came on and I just want to turn that off.
Valentin: Sure, no problem. So for example, CYP1A1 is a very important gene, cytochrome P450 gene. It’s in the liver. It kind of acts like a bodyguard. When you walk into a bar, there’s someone that’s going to let you in or not let you in. So this guy likes to break down scary compounds that enter the body, CYP1A1. And it catalyzes many reactions, some of them involved in drug metabolism. Also, in the synthesis of cholesterol, steroids, other lipids. So if you have a high CYP1A1 activity or low CYP1A1 activity, you’re going to have increased or decreased risks of various diseases. So for example, here is one of the more common SNPs for it, the 6345.
This is … if you have A allele on this one, I think you have a reduced CYP1A1 activity. So if you have both copies, which I do, you have an increased risk of biliary stones. Also increased risk of depression, GI inflammation, probably because the CYP1A1 enzyme really works to help detoxify things too. Pneumonia, acute respiratory distress syndrome, muscle, lean body mass, increased HDL, increased albumin, increased rectal polyps, all sorts of strange things. If you have the other copy, you have higher A1A1 activity, but then you have increased uric acid, increased maybe obesity, arm fat. Increased hemoglobin, increased hematocrit.
Maybe your hemoglobin gets too high, maybe you need to donate blood. So there are pluses and minuses really to any one SNP or group of SNPs. It’s really nice to look at groups of SNPs because one SNP is just not going to give you all the information. Maybe there’s like two or three SNPs that really give you a more complete story. Sometimes there’s 20 or 30 you got to look at. There’s some companies that they look at thousands of SNPs, but usually, there’s one or two dozen that are really important for any one particular issue.
Jeff: Val, the way you’re sorting that is you kind of have your little Google search up there where you put Alzheimer’s in, right? So a practitioner or patient who has concerns about certain areas of health or family history, would that be a good place to start when you curate these SNPs?
Valentin: Yeah, absolutely. So let’s say someone has some type of cardiovascular issues. They want to look at the heart disease. So I’d put in a CVD and all the top … some of the top CVD SNPs come in. Lewis-
Dr. Weitz: Let’s say we do have a patient now. We have a patient, we measured his LDL and it’s high, and we did a coronary calcium scan, and he has … for his age, he has a significant amount of plaque. Now, what could this panel now tell us about how we would help manage that patient?
Valentin: Okay, so somebody has a cardiovascular disease plaque. This is something that reduces the efficiency of endothelial function. So there’s going to be some endothelial dysfunction. I would look at some-
Dr. Weitz: Meaning that if we’re going to support their endothelial function, we might want to support it more vigorously than we might otherwise?
Valentin: Exactly.
Dr. Weitz: And/or we might want to do more focus testing on endothelial function?
Valentin: That’s right, that’s right. So if you look here, if I type that in, there’s a lot of nitric oxide SNPs, NOS2, NOS3, those are associated with cardiovascular issues-
Dr. Weitz: So if we’re going use specific supplements that support nitric oxide production, maybe in this patient who doesn’t do as well with producing nitric oxide, we might want to use a higher dosage.
Valentin: Exactly. So for example, for NOS3, this is one of the main … this is the endothelial nitric oxide gene. This one, if you have a lot of red over here … I have patients who have, half of these are yellow or red, some of them are more important than others. See, this one has a higher power factor. So these two and this one, for example. So if somebody has a lot of nitric oxides SNPs, you’re going to want to increase it. How do you increase it? L-arginine. A Lot of people supplement with L-Arginine. I’m sure Citruline is here somewhere too. Let’s see here.
Dr. Weitz: Yeah, a lot of people have different opinions about the best way to promote nitric oxide reduction before using [inaudible 00:27:00] and they’re using … some people are using nitrates.
Valentin: Right, exactly. So maybe the best researched one is L-arginine, omega 3s, vitamin C, trimethylglycine, resveratrol, ginkgo upregulates it. If you do a search of, for example for L-arginine. If you look at L-arginine, you can click on it and curate it. So curating it makes it end up in the final report. It’ll show you all the other genes that upregulate or upregulated or downregulated by L-arginine, and whether it’s an agonist or an antagonist. As far as nitric oxide, NOS3 specifically, we can look here. There’s a very long list of agents that have significant effects on a nitric oxide activity. So ginseng actually inhibits nitric oxide, NOS3, just as an example. Hydroxocobalamin inhibits it. L-arginine upregulates it so does melatonin. So does an acetyl cysteine, not a surprise. Nigella sativa, black cumin. So, in looking at so many agents, you’re able to paint the bigger picture of exactly what you need. So here’s a GSR, this is a glutathione associated gene. And glutathione reductase is a very important enzyme in the steps of creating and utilizing glutathione, which is a cellular antioxidant. Here are the SNPs associated with it, and what turns on this GSR gene, right? NAC, glutathione itself, usually you can get in the form of reduced glutathione. A lot of supplements contain that. Vitamin B2, riboflavin, nicotinamide. Lots of different ingredients have been shown to upregulate GSR activity.
Dr. Weitz: Okay, so now Val, so this is using the Opus23 database, the more complicated program. Can you show us how using the DSL program using artificial intelligence, and that makes it a little bit easier to formalize for us to put into a workable platform for clinicians helping to manage patients, how that program is maybe easy to use than this one, because this seems very complicated.
Valentin: Yeah. Yeah, this seems like a complicated program. The other ways to do it would be to use the Opus Explorer, which actually has a lot of the same apps that the full Opus23 program has. And then, there’s the genomic spotlight test, which is also very useful and people who don’t want to get into-
Dr. Weitz: So, with the genomics insight, that’s the middle level, right? This is the highest level one. Maybe you could take us to the middle level, the one that from DSL, and show us how that helps streamline some of this info to help with clinicians, say with conditions like you just mentioned, like let’s say we have a patient with Alzheimer’s or we have a patient with cardiovascular disease risk, how using that platform can help organize some of these genes and help us with managing patients.
Valentin: Sure, sure. Absolutely. Let me try to sign in here.
Jeff: So what you’ll see is many of the same functions. So you won’t be limited to the pre-curated panels, but you’ll be able to use that search bar, and if you were searching for any disease state or any condition or SNP itself, you could still do that. So even when you look at the software and you see the pre-curated panels, you still have the ability and you can still see kind of the magnitude or how important the SNPs are. And you can still drill down in the same way and find out the same information of what the agonist and antagonists are. So all of it is there.
Valentin: Okay.
Jeff: I think maybe if you show him kind of those pre curated reports, the report wizard, at the bottom there and let him see what the options are. Yes.
Valentin: So we’ll look at the report wizard. So with this, the report wizard allows you to choose several categories. They’re actually 12 of them. So let’s say your patient is having cardiovascular disease, plaque, et cetera, issues. So maybe we’re going to choose inflammation and a cardiometabolic. And let’s say, there’s a lot of detox symptoms and genetic risks. So maybe we’ll choose some of the detox SNPs.
Dr. Weitz: Okay, sounds good.
Valentin: And once you … you could choose a yes or no on any of these questions, do you want to include different maps that explain things, explanatory texts? Do you want to include all the SNPs in any program or just the ones that are risk … so after you make all these selections, you run the wizard and voila, there’s a full report that comes out. This is the Genomic Insight Opus Explorer report, and it reports for detox, inflammation and cardiometabolic, these three categories that we chose.
Dr. Weitz: Okay, cool.
Valentin: And it explains a little bit about the data, probabilities and then, it gets into understanding the report. Green is good, that’s a benefit. Yellow and orange are not as good. Two pluses in red, that’s both copies of the risk allele. So that’s going to be worse than maybe just having one copy usually. And then, it gets into the detox section. So here’s the detox section. Here are some of the genes and SNPs. So this, for example, AHCY is a gene, and here are the three main risk SNPs for it and the associated methylation issues, homocysteine, autism, et cetera, et cetera.
Dr. Weitz: So for example, if this patient, let’s say, I ran this panel and I also did some lab tests and I saw that their homocysteine was high. This is now explaining one of the reasons why your homocysteine is so high is because you have these specific genes that’s going to tend to increase that likelihood. So therefore, we might have to use a higher level of, say, specific supplements that help to lower homocysteine than we might have to use otherwise, for example, right?
Valentin: Exactly. Yeah, so it would make you pay attention to homocysteine, cardiovascular issues more, especially if you have symptoms and you tie them into genetics and you also tie them into blood labs like cholesterol, blood sugar, et cetera, et cetera. Here’s some other genes. CBS is another methylation associated gene. A lot of states there.
Dr. Weitz: What about CBS? Tell us about CBS for a minute here.
Valentin: Okay, here is the CBS gene, cystathionine beta synthase, and this is kind of like the beginning of the transsulfuration pathway. It provides instructions for making CBS. Begins the transsulfuration pathway and provides groups needed for detox, protecting your brain, neurotransmitters, modifications to certain hormones, making glutathione. This can be blocked. Let’s say you’re taking aspirin, certain NSAIDs can block CBS activity. CBS needs P5P. That’s the activated form of vitamin B6.
Dr. Weitz: Okay.
Valentin: It’s called Pyridoxal 5 Phosphate. A lot of supplement companies, they put in P5P into certain supplements, and one of the benefits of it is for methylation issues, which is what CBS involve-
Dr. Weitz: Right, so if I’m say now picking a supplement to help lower homocysteine levels, which typically is going to include B6 and B12 and folate, I’m going to make sure, I want to pick one that has the P5P form of B6 in it, because that would also help us with this genetic tendency.
Valentin: That’s right. That’s exactly right. And if you actually … if we go to the CBS gene, so if we go to the SNP navigator briefly and type in CBS, here’s the actual gene, we can look up … Here are all the risk SNPs for CBS. So you can see here power factor very low. So this particular one, not really that big of a deal that I have a risk SNP in it, but for this one, it’s higher and that one is not. So basically I have one heterozygous risk SNP for it. So it’s not like sound the alarm kind of an issue.
Dr. Weitz: Now in your case, CBS is not that big of a deal, you’re saying, right? Because-
Valentin: Not as big of a deal.
Dr. Weitz: Okay.
Valentin: For some people there could be some serious-
Dr. Weitz: I see. Okay.
Valentin: And over here you can see the agent expression fingerprint of CBS. So all the different agents that maybe can increase it. And one of them is P5P. Of course, the regular vitamin B6, just vitamin B6, Pyridoxine. Betaine or trimethylglycine has also been shown to improve methylation issues and actually upregulate the CBS gene and protein function. Interestingly, high testosterone levels has been shown to inhibit CBS activity. So people who are taking testosterone supplementation and people who have genetically high testosterone and DHT and whatnot, you might want to take a little extra P5P just because it might not be working as well, because that’s what high testosterone does.
Dr. Weitz: Interesting.
Valentin: Yeah. So going back to this gene, there’s the COMT gene. Very, very famous, one of the top … between this one and APOE and MTHFR, I guess those three, everyone wants to look at those first, right?
Dr. Weitz: Those are the three big stars.
Valentin: Yeah, and they are. They are important. So COMT is just … it works in so many levels, it’s very fascinating gene and the associations, if you have the low activity allele, that’s the Met allele, that’s because the protein that’s … I should say the amino acid that’s coded in that location ends up making methionine. If you have a different letter or nucleotide in there, then it makes the other one, which is valine or Val. So it could be Val or Met ValMet is what they call that SNP. So if you have the low activity version, you don’t break down dopamine as much, so you have higher dopamine, you can get stuff done better-
Dr. Weitz: So I’m confused, when I’m looking at this. So I see this SNP, it says the risk is C and then the type is R. R stands for what?
Valentin: R stands for risk and B stands for benefit.
Dr. Weitz: Okay, and you are the TT, but I thought the risk was C, so you’re not at risk or you are at risk.
Valentin: For this particular SNP. I don’t have … it says here UTT.
Dr. Weitz: What does that mean?
Valentin: The outcome-
Jeff: That means the alleles found was going to be a T and a T and not a C.
Dr. Weitz: Okay.
Jeff: So it’s not-
Valentin: Yeah, so there’s no issue.
Jeff: So this report shows a high functioning comm T because there are no aberrations here. So the risk alleles do not show up in any of these SNPs.
Dr. Weitz: Okay. So why does it say R for risk?
Jeff: Just tell it … because some are benefits and then, some are risk.
Dr. Weitz: Okay. Okay. Okay.
Jeff: Sometimes it’ll be green and it’ll be a beneficial SNP. Some SNPs that you have actually work in your favor.
Dr. Weitz: I see.
Jeff: This is just telling you that that C allele is the risk and then the result is a T and a T, so-
Dr. Weitz: So you don’t have that risk, so it’s not a problem for you.
Jeff: Right.
Dr. Weitz: Okay. I got it.
Valentin: If you did, if this allele were the risk allele, then the patient would have an increased risk of worrying about things. So anxiety and also increased, interestingly, suicide risk, high cholesterol, increased type two diabetes stroke. So there are several problems with it. However, reduced risk of other issues. Schizophrenia, reduced risk of pancreatic cancer, improved executive function.
Dr. Weitz: Okay, you know what-
Valentin: A lot of differences.
Dr. Weitz: Let me ask you to cut to the chase. Let’s say I’m a clinician and we started off by saying we have this patient who has cardiovascular risk. So now based on the genetics that we’ve run so far, what do we know about how we’re going to help manage this patient with cardiovascular risk differently? We had the thing about the homocysteine. Any other things that we can glean from this panel? Just in general, all the genes that come up for managing this patient with cardiovascular risk.
Valentin: Sure. So you would go to the cardiometabolic panel. Okay, let’s go to … so here are the cardiovascular genomics.
Dr. Weitz: Okay.
Valentin: And out of all of these, it looks like, let’s say the patient has a high level of ACE SNPs. ACE is an Angiotensin-I-converting enzyme. So people who have one, especially two copies of this particular SNP, RS4341, you’re going to have more problems. RS4343 is like lock stepping with this one. So if you have a problem with this one, you have a problem with this one as well. See, you have one risk allele here and you have one risk allele there-
Dr. Weitz: We know that the ACE inhibitors are used to control blood pressure. So I guess there’s going to probably be issues with blood pressure.
Valentin: Exactly. So hypertension is going to be more of an issue for this particular patient and let’s say-
Dr. Weitz: So does that mean for this patient we want to use an ACE inhibitor or an ACE inhibitor wouldn’t work as well?
Valentin: Well, it depends on the level of hypertension. So if this person has cardiovascular disease, there’s basically three levels, right? One, the patient has cardiovascular disease, but there’s not really any hypertension or there’s some or it’s very high.
Dr. Weitz: Okay.
Valentin: That run into issues with really, really you need to do something now. It depends what level you’re at. It depends on the patient. Some patients do not want to take pharmaceutical drugs. So you have to look at alternatives.
Dr. Weitz: So let’s say this patient does have elevated blood pressure and they have this ACE SNP, and let’s say they don’t want to take an ACE inhibitor, which would normally be recommended or not recommended for this patient. What else could we do? Are there specific nutritional recommendations worked into this software?
Valentin: Yes. Yes, there are. So if you scroll to the bottom, there’s going to be a list of agents based on the cardiovascular and the detox, the three areas that we chose, and here are the top natural products that affect the genes for which this patient has risk SNPs.
Dr. Weitz: Okay.
Valentin: So the number one, essentially, a natural agent based on the categories we selected is resveratrol. And the number two would be omega 3 fatty acids. And it just goes down the line, and if you look at these, almost all of these are going to be associated with the three categories we chose. Was it cardiovascular, the detox. So this is going to comprise a part of the treatment plan. Another nice part of using this Opus Explorer program is being able to actually have recommendations made. So I usually use the other one, but we could try to see if I can get it into here. Here are the natural products.
It’s either natural products or the other one. Yeah, it’s this one. So product advisor. So what is product advisor? It takes the top recommended supplements in the Designs for Health catalog and checks it. And basically, there’s a type of an AI system where it pulls all the information from a different database and shows you how appropriate it is. So mitochondrial NRG has a very high rating for this particular patient based on a full genomic analysis and pulling out different SNPs and kind of does the work for you, right? BioFizz Immune, Isoquercetin, zinc, vitamin D, vitamin C, all the risk SNPs, all the genes that have the risk SNPs are … you’re probably going to be assisted by these natural agents.
Dr. Weitz: Okay.
Valentin: And there’s an evidence basis and there’s an indication basis for all of these supplements. So it kind of helps you figure out what to give someone. There’s Migranol, Curcumin, magnesium, Feverfew, and these are just the top six. You could pick the top 10, top 16, and it will use some precision medicine algorithms to help you decide a supplement.
Dr. Weitz: This is part of that Genomic Insights that is offered by Diagnostic Solutions?
Jeff: That’s correct. This is what comes with the Genomic Insight panel. So when you … you don’t get really a static report, you can print one of those pre-curated reports out, but you’re getting access to the software with all of this information with your result.
Dr. Weitz: Okay.
Valentin: So it tells you … I went back to the report that Jeff was discussing. So it tells you all the different ingredients. BroccoProtect is a supplement, right? Discusses exactly why that’s good for you because these are the top 10 recommended products, they’re going to have discussions on all of them for this particular patient. And then, you get into a section called drug interactions. So these are all the different drug interactions available in the program-
Dr. Weitz: So this is saying if the patient consumes a lot of caffeine, they might have a higher risk of a heart attack.
Valentin: That’s right, because they just can’t break down caffeine as well, because they have this C allele in this particular SNP that’s in the CYP1A2 gene, which breaks down caffeine among other activities that it has. So, here’s another drug, cisplatin, right? Risk of tinnitus. Fluorouracil, a morphine, better response to pain relief drugs. So people who have one or two copies of the A allele, they have really good response, so they may not need as much morphine. And I can attest to that. I had a couple surgeries and if they give me too much morphine, I’m just going to throw up about a dozen times after. So that totally makes sense.
Dr. Weitz: Whereas maybe if you had some autoimmune disease and they were managing you with methotrexate and we saw your liver enzymes go up, we might want to talk to your prescribing physician that maybe for you methotrexate might be a problem compared to other medications.
Valentin: Exactly. Exactly. That’s pretty much the full report.
Dr. Weitz: Okay.
Valentin: It’ll go into any three categories of those 12, and with the genomic spotlight, there are eight categories that it’s been condensed to. We haven’t looked at that one yet. So this is the mid-level, pretty good analysis. You can look at multi SNP macros. This is the same thing as the algorithms. So if you click on this, you can sort the page kind of like in Excel.
Dr. Weitz: So what is this telling us about aging here, significantly, younger, and healthier-
Valentin: Yeah, the algorithm is a kidney function true, and the repute is bad. So that means that I have a risk SNP and there’s the risk SNP and I would have an increase in creatinine issues. So for an individual who has the T allele, his or her creatinine is approximately half that of somebody four to five years younger who does not carry it. So these algorithms are really useful. Here’s an antioxidant genotype, group one or group two. This can tell you whether or not you should put patients on zinc, vitamin C, E, zeaxanthin, astaxanthin, lutein, all these different supplements.
Dr. Weitz: So what is this saying now about zinc supplements? Explain this here.
Valentin: Sure. So for AMD group two, basically, if you have risk alleles in arms two, which is just one gene and CFH, which is the second gene, these are the really big vision associated, macular degeneration associated genes and SNPs. If you have a lot of risk alleles in your ARMS2 gene, you need more zinc, and if you have no risk alleles in ARMS2 and you take a lot of zinc, it’s actually going to double your risk of age-related macular degeneration. It was a big study done with 3000 people and after seven years, your risk of AMD doubles. If you take a lot of zinc, but you don’t have any ARMS2 risk alleles.
Dr. Weitz: Okay.
Valentin: And then, if you have a lot of CFH risk alleles, then the antioxidants help more, lutein, betacarotene, astaxanthin, zeaxanthin, vitamin C, vitamin E, et cetera, et cetera. Yep, so that’s a very interesting one.
Dr. Weitz: So, this is you and you’re at … well, you need to reduce your intake of zinc potentially or not take extra zinc.
Valentin: Right, right. Not take too much. Of course, this is a lot more important in older individuals and it’s especially important if someone has a personal or a family history of macular degeneration.
Dr. Weitz: Right, and look at all the zinc, everybody has been taking the last three years.
Valentin: Exactly. So that zinc can be great for you, okay for you or not so great for you, just depending on the situation.
Dr. Weitz: Interesting.
Valentin: Just so you know, I have my patients temporarily take lots of zinc, especially if they have the flu or COVID or something.
Dr. Weitz: Right.
Valentin: They take 100, 150 milligrams a day. It’s not a problem on a temporary basis, a couple of weeks.
Dr. Weitz: Right, but you know how many patients are still taking the same amount of zinc that they started taking in 2000 because they’re still worried.
Valentin: And that’s why we do all this stuff. That’s why we’re looking at all this. Here’s a gluten sensitivity one. This is a HLA-DQA1. So this particular SNP is a very, very significant, I’ll tell you all the different associations that it has. Lupus, multiple sclerosis, type one diabetes, Sjogren’s, autoimmune hepatitis, Graves disease, Hashimoto’s, all different types of gluten associated issues. So I have one copy of this. It doesn’t really matter if you have one or two. You’re still going to have the same risk. You’re going to have an increased risk of all these autoimmune diseases with it. That’s an important one. There are several of these. There are several-
Dr. Weitz: So that might be an interesting one, let’s say the patient does have Hashimoto’s which means autoimmune hypothyroid, and that person, it needs to be avoiding gluten, whereas maybe somebody else who has thyroid issues doesn’t necessarily need to avoid gluten.
Valentin: Exactly. So it’s very important to know what you need to do to maximize outcomes. So you can’t do everything. You can’t take all the supplements. You can’t eat all the foods. There’s just not enough time and space, so you’re going to have to make judgment calls, and judgment calls are fun for some people and horrible for others. I was talking to this one guy, about 75-year-old patient of mine, and we got into fruits and vegetables, which we really didn’t get into in previous appointments. His wife was there with us and we were discussing whether he eats fruits and vegetables and he goes, “No, I just don’t like vegetables.”
So, I found out … I thought I did a pretty good intake at the beginning, but after two or three meetings with this guy trying to figure out how to help him having problems, I realized his vegetable intake is he probably eats like half a serving of fruits and vegetables per day. That’s his intake. So then, I got into the why. Why are you doing this? So he explained that he doesn’t like them, he hates them. So I found out one, he was a super taster and two, his parents force-fed him various different bitter vegetables, I’m sure when he was a kid. So he kind of has fruit and vegetable PTSD. Maybe it’s called PTSV, I don’t know.
So for this type of person, I use the Ryan technique. I have a friend, Ryan who has the same issue. So one day we sat down, me and my good friend, Ryan. And we picked six vegetables that he doesn’t absolutely hate. He doesn’t like any vegetables, but he will consume these six vegetables. I forgot what they were, carrots, whatever. There were six vegetables. Obviously, corn is not a vegetable. White potatoes are not a vegetable and even though he had some good ideas, I’m sorry, President Reagan, ketchup isn’t a vegetable. Even though it’s got a lot of benefits from the tomato part, there’s just a ton of sugar in it.
Dr. Weitz: Right.
Valentin: People who were trying to reduce carbs should probably not have a lot of ketchup. So we got into the … I think we got five, I don’t even think we got to six. We got five vegetables that he will maybe eat once a week or something. Then, we gave him some type of extract. I think it was the designs for health, red-
Dr. Weitz: Paleo Reds. Yeah.
Valentin: Yeah. Paleo reds, paleo greens. We got them that.
Dr. Weitz: Yeah. Yeah, that’s a good way to increase the range of vegetables. We do that a lot too.
Valentin: Yep, as you can see here, there’s a lot of pharmacogenomics as well. So CYP2D6, CYP2C19. It’s important to know if one of these enzymes works. In fact, I heard everybody-
Dr. Weitz: What’s sad though is how many patients are being prescribed pharmaceuticals and does anybody ever screen this stuff to find out if that pharmaceutical is liable to be effective or have side effects for them?
Valentin: So for example, let’s just take Paxil. Anyone who’s taken any of these drugs, type it in, go to Wikipedia. What’s Paxil? It’s SSRI and then, even though you don’t know much about somebody’s … not you, but just the average person, maybe they don’t know much about this, but you could always go to the interactions and the pharmaco … anything with pharma, it’ll explain how it is broken down. So from here, we can see that this interacts, so Paxil interacts with your liver enzymes, and you can see here CYP2B6, strong inhibitor. The weak ones, it’s not as big of a deal, but this is. Some of these interactions, so if something you’re taking is a strong inhibitor of something, then you can go back to your list and see if you have that. And if you have that variant, then it’s going to basically turn off that enzyme. So it’s important to know that because that could have other effects. So it’s nice to be able to crosscheck. That’s why it’s good that your doctor or practitioner, whoever the patient works with, has access to this type of metagenomic data.
Dr. Weitz: Is there a way that you could just put in the five medications as patients taking and find out if there are genes and interact with those medications?
Valentin: Currently, there’s nothing like that going on, although I am working with a few people on that type of a situation right now, but I can’t discuss it too much. Yeah, there’s some of that in the works.
Dr. Weitz: Okay.
Valentin: Even in the Opus program, you can type in … let’s say, pick any medication.
Dr. Weitz: Paxil, you said.
Valentin: Paxil, so let’s take a look at Paxil. So right away you’re going to have CYP2D6 and HTR2A. So both of them are affected. I do a Paxil search. Women who have the G allele were more likely to be given the cold shoulder by men. That’s really funny. Paxil increased adverse effects. So there’s really weird things with Paxil if you have certain genetic variants. So yeah, that’s one way to look at it and here’s the CYP2D6 one. We could look up Paxil here. Drugs metabolized by CYP2D6 is huge. You think, “Oh, it’s not that big a deal. It’s not even one, it’s two,” right? And it’s not A, it’s D and it’s not even one, it’s six. So it’s got to be not that important, right? CYP2D6 is really important. It’s probably one of the top three liver enzymes for drugs and all sorts of other issues.
CYP2D6, slow metabolizers, a lot of problems, if you don’t know what you’re getting yourself into. There are some people that are like, I can’t take this, I can’t take that. I have an issue with this, issue with that. These patients usually have one or two big risk alleles in one of these liver enzymes. That’s why they can’t take anything. That’s the reason. So for this particular SNP, double reduced metabolism, that’s this … and if you take this one and we throw it into the nice government-sponsored SNP analysis NIH program, we could even see how common it is. This says 0656 SNP. It’s like, it’s not too common. Let’s see here.
The allele in Europeans is two and a half percent. So like 5% of Europeans have it. You can’t find it in anybody in East Asia, for example. It’s just not there. South Asia undetectable. In African populations, a little bit, pretty rare. So this is basically a European or Caucasian population-based risk SNP. Now, it doesn’t mean that if you happen to be Asian or African or African-American, it doesn’t mean you’re out of the woods, because they have other risk alleles in the same gene. So it’s like if you’re from this part of the world, this one risk allele is what you have to look at, but if you’re on this other part of the world, then these other three are what you have to look at. It’s nice that the program has all of them in there.
Dr. Weitz: All right, let’s work on trying to bring this to a close. What are maybe some of the final messages or some of the important things? Unless there’s anything really pressing that you want to cover?
Valentin: Jeff, you go ahead.
Jeff: So I think you can see just how deep into the weeds you can get. And that is cool, that’s good but I think using the report wizard helps you. He put three reports together, which made it a little longer, but it will show you in the gene what the risk SNPs are, and if you have those risk SNPs and then, you can kind of dig in from there and see what natural agents or even products are helpful for that, right? So you can go as deep as you want to. When you use our genomic insight testing, you have access to this indefinitely. So you have all of your SNPs. At some point, you may want to come back and look at a different disease state or risk.
So really I think the level of information is kind of vast. So it’s good to focus in maybe on with a patient, what is your primary concern? What is your health risk? What is your family history? And not really go into the weeds. So we give you the option to do that. We also give you the option to go way into the weeds if that’s what you want to do.
Dr. Weitz: Okay. Okay. All right, cool. So practitioners who want to start using some of this testing, they can go to diagnostic solutions and sign up for an account. And then, if they’re not a doctor, but they still want to use a version of this, what is that version called?
Jeff: So that version goes through Designs for Health, and that is going to be the Genomic Spotlight.
Dr. Weitz: Okay.
Jeff: Designs for Health will probably guide them to a health professional. We can also do that as well. So if they go to diagnosticsolutionslab.com where they reach out to us, we can help them find a practitioner who specializes in this. I can’t imagine that you would want to navigate this without … you have all of this genetic information, but you also have to compare that to the phenotypic response that you’re seeing as well. So I think you really need a practitioner to help you with that. And Diagnostic Solutions Lab also helps practitioners with the results too. So we do it with the GI map, we do it with Genomic Insight. We help you understand how to navigate the software and how to get the best use out of it. So we’re available for that support as well.
Dr. Weitz: Currently, through Diagnostic Solutions, is there one report or several reports approximately what is the cost?
Jeff: The cost, let me look at this. I haven’t looked at this in a while, but the …
Dr. Weitz: I want to say somewhere around 300 bucks or something like that.
Jeff: It is 329. The cost is 329, but you’re getting your full catalog of SNPs here, right? So I mean it’s really a great value. Again, those are options that you can choose and because you have this data indefinitely and you have access to this file indefinitely, if cardiometabolic is your primary concern right now and later on it’s cognition, you could come back with the patient in a year from now and then, curate the cognition SNPs. In addition to that, you can use the search bar or look at … you can type in macular degeneration if that’s something you’re interested in.
So really there’s lots of ways to use it. You can use the pre-curated panels or you can use … or if you just want to know a specific SNP, if you’re researching that SNP or that SNP comes to mind or that’s something that you’re interested in, you can look up that SNP directly. Again, you’ll see the risk allele, if it’s … what type it is and then, what the patient actually has, whether it’s heterozygous or homozygous or no risk allele.
Dr. Weitz: Okay, and this is a saliva test, is that right?
Jeff: It is a saliva test, that is correct.
Dr. Weitz: Okay, Awesome. Well thank you so much guys. And to find Diagnostic Solutions, what’s the website, phone number?
Jeff: Yep, Diagnosticsolutionslab.com or 877-485-5336.
Dr. Weitz: That’s great. Thank you so much.
Jeff: All right, thank you.
Dr. Weitz: Thank you for making it all the way through this episode of the Rational Wellness Podcast. For those of you who enjoy listening to the Rational Wellness Podcast, I would certainly appreciate it if you could go to Apple Podcast or Spotify and give us a five star ratings and review. That way more people will discover the Rational Wellness Podcast. And I wanted to let everybody know that I do have some openings for new patients so I can see you for a functional medicine consultation for specific health issues like gut problems, autoimmune diseases, cardiometabolic conditions, or for an executive health screen. And to help you promote longevity and take a deeper dive into some of those factors that can lead to chronic diseases along the way. That usually means we’re going to do some more detailed lab work, stool testing, sometimes urine testing, and we’re going to look at a lot more details to get a better picture of your overall health from a preventative functional medicine perspective. So if you’re interested, please call my Santa Monica Weitz Sports Chiropractic and Nutrition office at 310-395-3111, and we can set you up for a new consultation for functional medicine. I’ll talk to everybody next week.
Leave a Reply
Want to join the discussion?Feel free to contribute!