Why Your Family Tree is So Complicated with Dr. Robert Whitfield

Hey, it's Dr. Whitfield. We're going to talk about genetics today. We have a genotype which is the actual code. The base pairings are A to T and C to G. And then our phenotypes are what we express, what we see, how we act, you know, how those genes function really. And so I got this question out of Australia about BRCA2 and BRCA2 is a mutation. It's one of the, the genes can increase your risk of breast cancer. So it's tested for in families certainty look for genetic predisposition for cancer. And that's what it is, it's a genetic predisposition. So even if you had the genetic mutation of the BRCA2, it doesn't necessarily mean you're going to develop cancer. And so that seems confusing. If you have that mutation, why would wouldn't that happen? There's all, that's the whole reason to test for it. So the reason that someone with a BRCA2 mutation would not go on to develop breast cancer is called incomplete penetrance. That's when you have the gene, but you don't then go on to develop breast cancer. There's also another very, very important aspect of that equation and that's called variable expressivity. So we have incomplete penetrance which if we have the mutation we don't necessarily go on to in this case develop cancer and then two variable expressivity. So variable expressivity is probably easiest understood by looking at the Marfans genetic mutation. And that gene is FBN1. And so in Marfan's there can be a whole spectrum of problems. You can simply have hypermobility or looser skin all the way up to an aortic root dissection just because of the, the mutation. So just because you have a genet sequence and a mutation within the genetic sequence doesn't mean you're going to go on to express completely that that phenotype that could happen. So when I think about it and I relate it back to what I see in my practice and I've been looking at genetics in my practice for decades now, the, the reason I find genetics fascinating in practice is how we from an enzyme standpoint manage different elements. So I'm in Austin, it's been extremely cold the past several days and the mold count in the air is very, very high. I'm incredibly sensitive to mold. That has to do with the fact that in my cells and predominantly in our liver where we deto, my utilization of glutathione is not as efficient as it should be. So there's a whole set of genes that govern the glutathionization pathways. So I know that I actually supplement with glutathione and I do better with that. I also like a lot of people don't methylate well and everybody knows and has heard about MTHFR at this point. But methylation are very important reactions. They put a chemical methyl group on and specifically this used to affect me quite a bit from an energy standpoint because I don't methylate well. Utilization for me of like a plain B vitamin. So if I just took a B vitamin supplement off the rack, I would tend to not get the effect because I can't methylate well enough. So then utilize that extra B vitamin for energy. So in matter of factly if I wouldn't take a methylated B supplement I would definitely have lower energy levels. But because I know that I can, I can adjust and use a methylated B vitamin supplement. I prefer liposomals because of absorption. I just find that to be more efficient. And this is why, you know, I take issue with someone, you know, like Gary brecke and the 10x folks because they would talk about the methylation genes and overemphasize their, their importance and not mention the others that are extremely important for detoxification. So like I mentioned the glutathione pathway also things are important for immunity. Detox is our antioxidant pathway. So SOD2 is a gene there. SOD2 short for superoxide disputase 2. And so when we're working out really hard or our cells are working really hard, we produce more what's called O3, which is an oxygen free radical. And if you don't have efficient superoxide disputase, you have too much O3 buildup. If you do have efficiency, a good superoxide disputase function or SOD2 function, so gene copies, it's working, then you can break that down because basically you're just breaking it down to water by adding the hydrogen. In any event. The point is all these things work in concert. And if we don't have enough copies or if we have a single nucleotide polymorphism which is a base pair substitution in them, their efficiency can go down. It's not like it's absent necessarily, but it can be lower than anticipated. And so when I see patients who are suffering from and dealing with problems with chronic inflammation and everybody knows I deal with chronic inflammation with respect to our breast implant illness cases, many of them, and we'll often our results to release soon, but they have these single nucleotide polymorphisms, these changes. In addition, many of my patients have metabolism issues as it relates to estrogen. They produce a more toxic estrogen metabolite. It's checked in the blood. It's called estro. So all these different things have to do with how we detoxify our hormone metabolism. And when you have these limitations, you know, I'll have somebody have a genetic report and we'll go over it, or the team will go over it. And really looking at their genetics and understanding allows them, empowers them, really, you know, just like it is for me when I first looked at our reports and, or my report specifically, and it showed I did not have celiac disease, but I did have non celiac gluten sensitivity. So what does that mean? I just don't have good enzymatic activity and it's difficult to break down gluten. So I didn't know this forever, seemingly. And the whole reason it became more and more of an issue is my daughter got sick when she was younger and we couldn't understand what was going on with her. So ultimately we had her tested and she had non celiac sensitivity. And I did and son does as well. Anyway, the whole point is that's a real common problem. So now even if you travel in Spain, which we do a fair amount, they'll ask you if you're ciliaco and you can say poncet gluten, which is, you know, bread without gluten. So say, for instance, all I had was the variable expressivity of that, that gene. That means I could tolerate gluten probably for a little bit, and then I would exceed my capacity enzymatically, you know, very quickly. So I don't even. I don't test that. I know I really shouldn't do that. And when I eat, I don't have problems with bloating, cramping, swelling, things like that. Those are all, you know, things that are in my control. So, you know, the genome project being completed, really, from the time I was in college and med school, all sorts of things have been, you know, changing rapidly. With one, the development of the Internet. I went from, you know, looking up journal articles in huge libraries and on CDs for all you people who remember what a CD is to being able to access the entire library of the National Library of Medicine online. If you go to National Library of Medicine or PubMed, just type in PubMed. And if you want to learn more about BRCA, and its long term outcomes as it relates to patients. I'm sure there's a study better than I could go conjure up and quote right now by looking up. You can also look up papers I published. I recently published a paper about the incidence of bacterial contamination on explant specimens that's searchable in PubMed. I'm the first author on that. Just type in my last name, Whitfield W H I T F I E L D and you'll start finding papers that I've published. So you know, to summarize, we each get a genotype, you get that from your parents, you inherit that. And then the phenotype or how it's expressed is a function of, to me personally, like where we live, what we eat, what we drink, the actual exposures we get over time. So things like, like environmental exposures through things like heavy metals, like arsenic and lead, things like mycotoxins, like I'm sensitive to mold right now, like I said, and then other environmental toxins that can be harmful that we know are carcinogenic. The things that I try to be careful of and through examination of toxicity testing. Look at parabens. So parabens used to be frequently used in cosmetic products and we know cosmetics predominantly used by women. The application of those products through your skin can lead to absorption of those. And if you don't process them well or have limited capacity like we've been discussing, those would build up in your system and affect your hormones, your basic endocrine system. The things like herbicides, pesticides. You know, we've talked about glyphosates, which is what's in Roundup. Those things have been incorporated unfortunately into our crops and gotten into the food supply. And when we ingest those, it's very hard based on your genetic capability to get all those processed through your GI tract into your liver and out. So those are just simple examples of what we talk about. Another is a phthalate, which is a plasticizer. So you always hear me talk about don't drink out of a plastic water, water bottle. Drink out, you know, of stainless or glass. And it's because phthalates can actually be leached into the, the fluid you're drinking. So genetics play a key role in how I think about each of my, you know, prospects, clients, patients, friends, family. Goes back to my entire, you know, biology degree, you know, now it's, it's funny, you know. GARY Bruck HUMAN BIOLOGIST I, I have a degree in biology, a medical degree, nine years of surgical training. I'm sorry. Nine years of surgical training and have been operating in 2026 will be 30 years. I've seen a lot change in that time from, you know, one day doing a gallbladder surgery open with a scar, to doing it with a camera, to doing modified radical mastectom one day and the next being converted to lumpectomy and several node biopsies. Introduction of all sorts of just endoscopic surgeries. And the genome project was, you know, completed. So it's been a fascinating, you know, time and things continue to advance. Now we have artificial intelligence and very interesting times.