Fetal geneticist Dr. Tamar Goldwaser and OB-GYN Dr. Nathan Fox dive into the nuances of carrier screening and why people might hesitate to receive them. Although uncommon, secondary findings are possible and a parent might find something unexpected in their own DNA from a genetic test. Additionally, the results of a genetic test could lead to difficult decisions like whether to consider IVF or freezing your eggs. In this podcast, they discuss the implications and possible next steps to consider for diseases like Fragile X Syndrome, Fabry disease, hemophilia, Gaucher disease, and other genetic mutations.
“Advanced Level Carrier Screening: Some things we might learn about the mother” – with Dr. Tamar Goldwaser
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Dr. Fox: Welcome to today’s episode of “Healthful Woman,” a podcast designed to explore topics in women’s health at all stages of life. I’m your host, Dr. Nathan Fox, an OB-GYN and maternal-fetal medicine specialist practicing in New York City. At Healthful Woman, I speak with leaders in the field to help you learn more about women’s health, pregnancy, and wellness. All right, Dr. Tamar Goldwaser, superstar geneticist, part of the national and international panels. You are like the NBA All-Star of genetics. How about that for an intro?
Dr. Goldwaser: Thank you. That’s insane. Thank you.
Dr. Fox: That is insane. No, so again, you’ve been on the podcast a lot. Awesome. And we’ve gone over a lot of topics in genetics. Last week we sort of did an update on carrier screening and sort of the work that you were doing as a part of the committee, basically like the National Genetics Committee to talk about carrier screening. We talked about Tier 3 and how everyone should be screened, you know, for more conditions. And you guys picked this panel or selected at least 113 of these genes.
And one of the principles that we mentioned last time, we mentioned, you know, years ago we did this, that basically from, like, a reproductive standpoint, there isn’t a huge downside to being tested for more stuff, right? The cost nowadays is basically the same. This is stuff you would never know you had unless you happened to be screened or happened to have a kid who was sick with this.
And so, sort of it sounds like, you know, more is better, and it might be true, but there is a concept that I wanted to talk with you about this week, which is really important that with carrier screening, again, the purpose of it and the intent is, you know, find out if I’m a carrier, find out if my partner’s a carrier. If we’re both carriers of the same thing, our kid has a 25% chance of getting it, so we wanna, you know, either sort that out with IVF on the front end or do a CVS or just know at birth. And, you know, there’s all these different things, but there are some conditions where, in fact, it has implications for the person being screened, right? One of the people reproducing, the mother, the father, whoever it is, it’s not why we do the tests, but it’s sort of secondary information. Now, some people might not want to know this and that is a conversation. If you may not wanna know this, I’m pretty sure you’re gonna fall on the line that you’re better off knowing than not knowing. I know you, Tamar.
Dr. Goldwaser: Yeah.
Dr. Fox: But I wanted just to talk about that. There’s a really big intro because this is something that people don’t even know is a possibility.
Dr. Goldwaser: Yeah. I mean, whenever you do a genetic test nowadays, whether it’s to screen to see if your baby might have a higher chance of having Down syndrome, or if you do an amniocentesis or an IPT, whenever you look at DNA, you can learn unexpected things about the person whose DNA is being looked at. So, this idea of secondary findings is there in any genetic test that you do. But it’s important that we talk about it. So, when you’re doing carrier screening, just like you said, you’re not thinking you’re walking in the door to get a diagnosis for yourself. You just wanna know what you might pass on to a child. But now that we are using sequencing, which is where you literally read the DNA, there are times where we give either the mom or the dad a diagnosis that would impact their own life.
Dr. Fox: Yeah. And I think that that’s important for people going into the test to know. Again, it’s not common. I mean, most of the time that’s not gonna happen. The vast majority of the time that’s not gonna happen. But it does happen from time to time. And that’s part of the reason that we do try to have some sort of what we call pre-test counseling, just to explain, like, what the hell are we doing here with this genetic test and what might happen? Like, you may get a test that says totally normal. Great, which is actually uncommon. You may get a test that says, you know, you have these one mutation, two mutations, three mutations. “Fine, and let’s make sure my partner doesn’t have it and we’re good.” Or you may find out you have this mutation, “And by the way, we gotta talk,” right? You’re like, “Hello.”
And so having pretest counseling is a little bit complicated, and we spoke about this in previous podcasts, not because it’s complex in nature, it’s just to really understand this 1000% needs a lot of counseling. And since it’s recommended that everybody gets screened, it’s very hard that every person who’s getting screened also gets an hour of genetic counseling beforehand. It’s just not doable, it’s not practical. And so there’s a lot of ways to sort of try to give people proper pre-test counseling, whether that’s with handouts, whether it’s, you know, websites, whether it’s sort of short videos, podcasts like this. But the idea is people should understand a little bit about the tests they’re having before they have them done so that when the results come back, they’re sort of not shocked or surprised or upset that this was even a possibility. Yeah, I mean, I know that… Tell me, what are your feelings on pre-test counseling for stuff like this? Because it’s really hard.
Dr. Goldwaser: Yeah, it’s really hard. And, you know, you know that I just wrote two pages of a Word document for pre-test counseling and we’re looking at it saying, “How are we gonna get through all of this with each patient?” And I do think that it’s a problem in the genetics world in general because we take what we do so seriously and we want it to be handled with care. And at the same time, it can also be a roadblock in terms of, you know, it might even restrict access for some people to get testing done because we require or we want to be able to give so much information upfront before offering a test.
So, I think it’s an issue that we have in medical genetics that we still have to… I don’t think it’s been properly worked out, but I think this podcast is an excellent way to get your pre-test counseling and information. You really just wanna be an educated consumer. And we can make videos, and we can provide written information, and we can know what we need to know as doctors, but it’s really hard because these conversations can take a very, very long time. And when you have so much to cover in prenatal care, it’s really difficult…
Dr. Fox: Look at Tamar planning a podcast.
Dr. Goldwaser: … as you think of the challenge.
Dr. Fox: Look at you. See, that’s why we invite you back.
Dr. Goldwaser: yeah, I think it’s perfect.
Dr. Fox: Listen, I obviously agree. I think that… You know, I tell you all the time, “Listen to the podcast, you’ll get an hour on this.” You’re never gonna get an hour of this with your OB-GYN. Never. They don’t have an hour of this. Because if they do this, you’re not gonna pap smear. I mean, like, that’s just how it is. You know, you can’t do everything and spend all day. It’s just not possible. It’s just not feasible. It’s not what the patients want. If the doctors can’t do it, the office can’t. And so you have to do whatever you can to get information from whatever source you can that’s reliable. And so yeah, I think it’s really important.
But the other thing is, it’s also part of the reason when you’re getting carrier screening. All right, you may not get an hour of pre-test counseling, but you should probably know who’s gonna talk to me if it’s abnormal, right? Because then it’s, okay, most people get either normal, like, you know, we said totally normal results or results that are, all right, they’re not, like, normal and that you may have a mutation, but they’re not complicated. You have a mutation but we don’t have to deal with it unless your partner has the same mutation. That doesn’t take that long to sort of get through.
But what if there’s something really odd that comes up? And I think that’s why I’m not a huge fan of, and I’m pretty sure you’re not a huge fan of people just sort of, like, going commercial and sending their stuff off to, you know, a place like 23andMe and say, “Hey, tell me everything you can about my genetics.” Because what if you find out something crazy, like, who are you gonna turn to? That’s really when it gets ugly and there’s no way…
Dr. Goldwaser: It’s dangerous.
Dr. Fox: … to find the information. Yeah.
Dr. Goldwaser: And you don’t exactly know what tests are done. And they may say you were checked for a certain gene but they may not have looked at the entire gene. And so I think it’s really dangerous to do anything that you’re gonna use for health if you’re gonna go in a direct-to-consumer route, at least for the time being.
Dr. Fox: Yeah. I mean, if you were to find out if you’re gonna like the taste of cilantro, like “Okay cool, like, you know, great.” You know, like [inaudible 00:08:15]. If you wanna find… “Hey, you know, yeah, what’s my ancestry.”
Dr. Goldwaser: I wouldn’t like, you know, bet yeah, the health of the baby, I wouldn’t use this as a way. But I agree that you need to get your information. And another challenge is let’s say we build this into every prenatal visit, half the patients really don’t want to get this detailed and granular, and some people do wanna know more. So, I think that’s the other challenge. I think that’s another good reason why we’re talking it out there.
Dr. Fox: Yeah, and, I mean, most of the times, the labs that do the carrier screening usually also employ genetic counselors who are available to talk about the results with the patients, right? It may end up being your doctor or midwife, it may be a genetic counselor that works, you know, for the hospital or for the clinic you’re at or whatever it is. But also the big labs, like, know this, like, they know that there’s an issue and they typically employ a team of genetic counselors who go through the results. And again, if it’s sort of normal, fine, it’s normal. And if it’s like, “Hey, you’re a carrier of something, let’s test your partner,” that could be a five-minute conversation. That’s not particularly complex.
But if there’s something that comes up a little bit, you know, funky, they talk about this with you, and they’re available, at least the labs that we’ve worked with are. I don’t know, as a consumer, if you can ask your OB-GYN, “Hey, does this lab have genetic counselors?” But maybe say, “Who’s gonna talk to me if these results are abnormal?” That’s kind of an important question to get through because there can be something that comes up that needs some complicated discussions.
Dr. Goldwaser: Definitely.
Dr. Fox: So, let’s talk about some of the conditions that might pop up. I know that we have talked about Fragile X in the past, and that’s sort of a classic one. So, what goes on with Fragile X?
Dr. Goldwaser: Okay, so Fragile X is the most common inherited form of intellectual disability in boys. And it’s due to a change in a gene that’s on the X chromosome. So, it’s called an X-linked condition. So, carrier screening in general is looking at recessive conditions that follow the model that we had talked about where you could be a carrier and if your partner’s also a carrier, you have a 25% chance of having an affected child. But X-linked conditions are also on the carrier screening panels. And these are really just passed on from the mother on the X chromosome to her sons. And it’s also passed on to females, but they’re usually more significant in males because males have one copy of the X chromosome. They don’t have a second copy of a functional gene. And so X-linked conditions in general are much more severe in boys because they inherit just this one gene with a mutation and so they don’t have a backup copy.
Dr. Fox: Right. Because their other copy is a Y chromosome.
Dr. Goldwaser: Exactly. They have a Y and an X, whereas females have two Xs. So, they have that backup. So, Fragile X, what’s interesting is it’s recommended that you have carrier screening for Fragile X. And sometimes females who are completely healthy, we might find out that they’re a carrier for Fragile X. They don’t have the condition but they’re a carrier. And women who are carriers for Fragile X, depending on the result, could be at risk for early ovarian insufficiency where basically it looks like you’re going through menopause but at a much younger age than the average population.
So, the average age of menopause in this country is 51. But patients who have this side effect or this manifestation of being a carrier might go through menopause in their 30s or, you know, 40. So, it’s a big piece of news to learn about yourself if you’re going through carrier screening. Let’s say you just got engaged or you just got married and you’re starting to build your family, you might learn you are at risk to have a child with Fragile X syndrome and you also are at risk to not be able to get pregnant because your ovaries may sort of go through the menopause much, much sooner. So, that’s a big pill to swallow when you’re getting those results.
Dr. Fox: Yeah. But it is important because, A, on the reproductive side, you’re gonna wanna know, am I gonna want to test this pregnancy, right? Or do IVF, you know, whatever. And number two, you’re like, “Hey, if I’m at risk for premature ovarian failure or early menopause, I either need to get started and have kids early or potentially do IVF early and, you know, freeze eggs or freeze embryos, or whatever it might be.” But again, it’s not something you can “do anything about” to prevent the early menopause, but you can for sure do something about to potentially still have an opportunity to have whatever size family you want if you can plan ahead. And that’s something that… Again, it’s not the reason we do the Fragile X screening, but it is a consequence of finding out you’re a carrier.
Dr. Goldwaser: Yeah. And it’s definitely useful. So, if we find that someone is a carrier, depending on what type of carrier, it would have to be something called a premutation. We would refer them to in vitro fertilization center to do fertility preservation. So, they would either try and harvest eggs and freeze them or harvest eggs and fertilize them if you have a partner or sperm donor so that you can have the option of having your family whenever it is you want to.
Dr. Fox: Okay. So, presumably, there’s gonna be other X-linked conditions that also can manifest in the mother because it’s sort of… So, let’s stick with those for now. So, what else in the X-linked screen might come up?
Dr. Goldwaser: So, there’s something called Fabry disease and it’s also X-linked, and it’s basically a condition where you’re missing an important enzyme. And males who have Fabry disease have end-stage renal disease. They end up having basically kidney failure. They need a kidney transplant, they have pain crises, they can have heart disease and cerebral vascular disease. But many females who carry that mutation also have either some or all of those same symptoms.
And so, you know, I heard a lecture from someone who takes care of a lot of patients with Fabry. They say they’ve learned everything from females about Fabry disease because most clinics who take care of Fabry are taking care of females. And so it’s basically contrary to what the old teaching that females who are carriers for X-linked conditions are healthy and it’s just their sons who we have to worry about. So, sometimes you can learn something that you’re a carrier or you have a full mutation for Fabry, you didn’t know it yet, but there’s something that you can do to go see a kidney specialist. They can put you on medication to help prolong the life of your kidneys and to push off ever-developing end-stage renal disease or at least be able to improve the quality of life and help preserve your health for a lot longer. And females can also get that enzyme replacement.
Dr. Fox: And just to clarify, these conditions that we’re talking about, are they on the Tier 3 list that you have?
Dr. Goldwaser: Yes.
Dr. Fox: Okay. So, both of these, Fragile X, Fabry, both are recommended to be screened routinely in everybody. So, meaning pretty much anyone who’s, you know, doing the screening will find out if they’re a carrier of one of these things.
Dr. Goldwaser: Yes.
Dr. Fox: Okay. So, this diagnosis will be more common, I would imagine, moving forward at least, or it’ll be earlier at least.
Dr. Goldwaser: Yes, it’ll be earlier. And it can really actually help that person’s life to know about it early and to sort of get on the treatment protocol before you even knew you had something to deal with because it can help you, you know, down the road.
Dr. Fox: Absolutely. Okay. What’s next? What’s next on the list TG?
Dr. Goldwaser: Another one is Hemophilia. I gave a little shout-out to Hemophilia at the end of the last podcast.
Dr. Fox: Hemophilia, by the way, they emailed in and Hemophilia thanked you for the shout-out.
Dr. Goldwaser: Right. So, people know about it because some members of the Royal Family in England had Hemophilia. We know males can die from the fact that they cannot form blood clots after just minor trauma. And so it’s very important to know about. So, Hemophilia A is the classic one, and that’s due to a deficiency of factor VIII, which is on the X chromosome. Hemophilia B is a milder form also on the X chromosome. And so both of these are important to know for reproduction so that you know if you have a boy, if he has Hemophilia, you need to know about it really right at birth because you think about avoiding any kind of trauma to the baby during the birth process.
And also if you’re gonna do a circumcision, for instance, it’s really important information to know before anything happens to the baby. But also women can have, like, carrier women can also have some levels of bleeding disorders and you can check it by doing some functional studies. And we use that information all the time when we take care of our pregnant patients. Some women who are carriers for Hemophilia B, which is the milder form, they still might have enough of a bleeding disorder or, you know, trouble with making clots that it might impact the risk that they may have when they get an epidural, for instance, when they come in for labor.
Dr. Fox: Right. And these are things that typically, whether it’s in the children or in the mother, can be treated with replacing the factor that they’re missing.
Dr. Goldwaser: Yeah, absolutely. So, it’s useful to learn this information.
Dr. Fox: Awesome. Okay. I think that’s all the X-linked ones, correct?
Dr. Goldwaser: Yeah, I mean, there’s a whole list of them, but I think those are three great examples.
Dr. Fox: Those are the big ones. Yeah.
Dr. Goldwaser: Yeah.
Dr. Fox: Yeah. Okay, so what about some recessive conditions? Sort of the more classic, only an issue if I’m a carrier, you’re a carrier, and then our kids have a 25% chance. But there are a few where if you’re a carrier there might be some mild conditions not diagnosed.
Dr. Goldwaser: Okay. So, one classic is Gaucher disease, which is also an enzyme deficiency, but it’s inherited in an autosomal recessive manner, which means if you’re a carrier you have a backup copy and you’re healthy. Basically, we say 50% is good enough and you’re healthy and you’re fine. And we screen patients to see if they’re carriers for Gaucher in this recommended panel. And every once in a while, we actually find that the patient doesn’t have one mutation but she, in fact, has two mutations and she has Gaucher disease and didn’t know it yet.
This is more common if we test people in their younger 20s because Gaucher disease, if it’s not on the radar, it can take years to get to the diagnosis because the presenting symptoms are pretty vague. We call that the diagnostic odyssey, where people just go from specialist to specialist and they have all these sort of nondescript symptoms, easy bruising, joint pain, maybe they get sick a little more, abdominal pain, and no one really knows what’s going on. And so sometimes you may learn that the patient themselves has Gaucher disease, and you can fast track them to treatment because there is treatment, it’s enzyme replacement again, and it’s definitely beneficial to learn. But I think it’s good to know that you may get a diagnosis when you do your carrier screening.
Dr. Fox: Right. I remember we had a patient who got diagnosed with a mild form of cystic fibrosis on her screening. She wasn’t full cystic fibrosis that sort of classic, but she had some lung issues and got some pneumonia and was sort of in and out of the hospital. And in more of a milder form, then someone said… You know, they shared her carrier screen pregnancy, and they’re like, “Dude, you have cystic fibrosis.” Like, “What?” You know, but it made sense, you know, and that happens because you find a mutation on both copies.
Dr. Goldwaser: Absolutely. And that highlights the fact that there’s actually a broader range of how different diseases present. So, we know the most severe forms of certain things like cystic fibrosis, but it was a newer finding to learn that some people are much more mildly affected, you know, sometimes hardly at all. So, that’s another phenomenon going on. When we do more testing, and when we open up the testing to the whole general population, we learn much more about each gene and how they work.
Dr. Fox: Right. Okay. So, what else you got?
Dr. Goldwaser: Another example is something called hyperphenylalaninemia, which is the cousin to a more well-known condition called PKU. And basically, again, this is something where you may not be able to tolerate something called phenylalanine in the diet and you have to avoid certain ingredients in your food. And so people who have classic PKU really have to adhere to a really, really, really strict diet. If they don’t, it can lead to irreversible brain damage and intellectual disability. So, it was a huge discovery when it was discovered. But now what we’re learning is that some people have a much milder form and they don’t have a total absence of their enzyme and so they themselves have gone undetected all these years.
It’s important because in those patients, especially during pregnancy, you do wanna know that the phenylalanine levels are in control in order to avoid certain harmful effects that it can have on the developing fetus. So, if the mother’s phenylalanine levels are not well controlled, it could have effects on the fetus. And so again, that’s a very practical example of why it’s good to learn it, but you may, you know, never have known it before.
Dr. Fox: Right. What else you got?
Dr. Goldwaser: Okay, another example again of a recessive condition that you can end up getting a diagnosis for is something called hypophosphatasia. And again, this is the kind of condition where some people have a very severe form of their condition where they have a lot of breaks in their bones at early ages and you can lose your teeth, and there’s an even very, very severe form that is so severe that it leads to miscarriage. But there are some people who have a really mild form of the condition and we might say, “Wow, you don’t have one mutation, you actually have two.” So, you’re expected to show some symptoms. And then if you dig further you might learn, “Actually I’m not wearing my own teeth, I’ve lost all of my teeth intact. They just fall out with the root and I’m sitting here, you know, a healthy-appearing patient, but I’m wearing dentures.” And that has happened.
And again, it’s useful to learn because there is treatment. And also, for those patients, they are at higher risk for getting osteopenia at an early age. So, you would recommend a DEXA scan to screen for bone density at a much younger age. You don’t do it in pregnancy, but right afterwards. And a lot of times this happens when people are pregnant, but, you know, if you’re not pregnant, we would send you for a DEXA scan to check your bone density. And there are certain medications that generally we use for osteopenia but are contraindicated for patients with hypophosphatasia. So, again, extremely useful to learn.
Dr. Fox: Right. And again, you know, a lot of people sometimes will make the argument, which is legitimate. There are certain things I don’t wanna know about genetics. Like, I don’t wanna know if I’m gonna get Alzheimer’s when I’m 70, or I don’t wanna know if I’m gonna develop this condition that’s gonna kill me when I’m 50. I mean, some people do wanna know, some people don’t wanna know, and I get both arguments because, like, listen, there’s nothing I can do about it. Why do I wanna worry my whole life that I’m gonna get this? Like, it’s just gonna affect the next 40 years of my life. It’s gonna make me miserable, I’d rather just live my life fine. Like, totally understandable.
But that’s not what we’re talking about here. These are things where it’s a condition that if you were to know in advance you can prevent many of the adverse outcomes that happen from it. You know, just knowing that you’re lacking this enzyme, okay, you can be followed and you can take the enzyme. Or like you said, there are certain treatments, there are certain screens and there’s things you can do to prevent it entirely or to make your quality of life much better as you get older. And so this isn’t the kind of thing where it makes a lot of sense to stick your head in the sand, whereas it might be for some other conditions. These are things where it does not make much sense to stick your head in the sand for this.
Dr. Goldwaser: I agree with you. And I have to say that patients usually, they greet this information, they find it almost comforting because a lot of times when you get a diagnosis, the patient will eventually say, “You know what, this makes so much sense. I’ve been dealing with all these things, I didn’t understand why,” and it’s a welcome piece of information. At least they have something to then look into and pursue and treat.
Dr. Fox: Right. And I know that there’s another condition you wanted to talk about, which is the ATM where we get our cash from when we used to have dollar bills and whatnot instead of, you know, Venmo. So, what’s the ATM?
Dr. Goldwaser: Okay, so ATM is a gene, again, it’s not X-linked. So, we have two copies of this gene. And it’s an example where it’s on screening panels because it can put your children at risk to have a recessive condition where again you would have to inherit two mutations, one from mom, one from dad in order to be affected, but carriers of an ATM mutation. So, even if you just have one copy, they are at higher risk to develop cancer throughout their lifetime. And it’s not by a small amount, it’s actually by a significant enough amount that there are different healthcare screening guidelines for patients who have just one ATM mutation.
Dr. Fox: What kind of cancers are we talking about?
Dr. Goldwaser: So, if you have an ATM mutation, for females it increases the lifetime risk for breast cancer significantly. So, the lifetime risk is anywhere from 20% to 40% if you have one ATM mutation. And to put it into context, if you have a BRCA mutation, your lifetime risk is up to 80%. So, it’s not as high as carrying a BRCA mutation, but the general population risk is somewhere like 11% to 12%. So, it’s definitely much higher than the general population risk.
Dr. Fox: Wow. All right. And again, it’s not on the carrier screen as part of a cancer issue. It just happens to be that if you’re a carrier of this you have an increased risk of cancer.
Dr. Goldwaser: Yeah, it’s kind of crazy because we offer different tests at different times, but it’s all looking at your genes, and some genes do more than one thing. So, ATM, if mom and dad both pass on an ATM mutation, they could have a child that has something called ataxia-telangiectasia. It’s the most common cause of… It’s called cerebellar ataxia. But basically, it leads to really unstable gait or walking in children, and then they can also have immunodeficiency and other issues with their eyes. So, that’s why it’s on a carrier screening panel because if two carriers get together, they have a significant chance of having a child with this condition.
But incidentally, or sort of as a secondary finding, patients who have an ATM mutation should then go and speak to someone who specializes in hereditary predisposition to cancer. Women are referred actually for additional breast cancer screening. So, the average woman is sent for a mammogram every year at age 40. But patients who have an ATM mutation, depending on their family history and a discussion with their doctor, we usually add MRIs to their screening protocol, breast screening MRIs, anywhere between ages 30 to 35. So, it’s definitely important and I would say potentially lifesaving type of a finding.
Dr. Fox: Amazing. I mean, talking to you, this is, like, such high-level stuff. It’s almost science fiction. I mean, it’s crazy where we are nowadays. It’s not science fiction, this is #real, but it’s just amazing that there’s so much testing that’s available that is from a reproductive standpoint, critical as we spoke about in the last podcast. They’re like, “Everyone should be screening for this.” But as we do this on more and more people, we learn so much about these genes. Because in the past, you wouldn’t know who’s a carrier of these things because they were never tested before.
And so now that we’re getting more and more information about who carries what, we do begin to learn the implications of that potentially to someone’s own health. I mean, we went through whatever, six or seven examples, but over the years, there’s certainly gonna be more that come up and this is gonna be potentially a way to help avert some conditions, you know, as we get older.
You said about cancer, as a cancer prevention. It’s just wild that this is expanding so rapidly in how much we’re learning. But it also again really just underscores the point that with screening and genetic screening, it needs to be with an infrastructure. There needs to be someone or some team of people or somebody who’s gonna look at these results. And if it’s abnormal, not just sort of, like, put the blind folders on but also say, “Hey, is this one of those genes where I need to talk to the mom about this, like her own health?” And that is something that is really important to do this with, like, reputable people and reputable labs that have an infrastructure. Otherwise, you’re not gonna know this information. You’re just gonna sit in your file for 10 years and no one will ever tell you.
Dr. Goldwaser: I totally agree. I’ve had people show me their genetic test results that say something really significant about them and they didn’t know and they had it and maybe it wasn’t highlighted well on the report or there was some misunderstanding along the way in the chain of passing on information. But yeah, there’s a lot there. And all I would also say is it is overwhelming for doctors, it is overwhelming for patients, but knowledge is power, and if you don’t understand what information you’re being given, you can reach out or just look for someone who is a genetics professional, a genetic counselor, a geneticist, maternal-fetal medicine doctor, a pediatrician. So, just bring your questions to doctors who you trust or people who are in the field.
Dr. Fox: Amazing. Tamar, thank you so much for coming on back-to-back weeks. This is really important stuff. Love having you around test questions too on the team and, you know, moving the needle nationally, which we appreciate.
Dr. Goldwaser: Thank you. Thank you. And thanks for spreading the word. I think it’s so important.
Dr. Fox: Thank you for listening to the “Healthful Woman” podcast. To learn more about our podcast, please visit our website at www.healthfulwoman.com. That’s healthfulwoman.com. If you have any questions about this podcast or any other topic you would like us to address, please feel free to email us at firstname.lastname@example.org. Have a great day.
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