Ep 146: What Your Genetics Can Tell You with Genetic Counselor Ushta Davar Canteenwalla

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This week we are talking with genetic counselor Ushta Davar Canteenwalla. There are so many testing options these days but very little support to understand the nuances to ultimately help people decide what the best test is for them. As we’ve discussed time and time again on the show, knowledge is power. People who are informed in advance about their testing options make better decisions, have more meaningful conversations with their OB or midwife, and are better prepared for potential curveballs.

As a board certified licensed genetic counselor with over 16 years experience in clinical genetics, Ushta is here to discuss what exactly genetic testing entails and how it can help expectant parents. Hopefully this interview will bring some clarity and confidence about choosing the best genetic tests.

In this Episode, You’ll Learn About:

  • What is a genetic counselor
  • Who should consider seeing a genetic counselor, either before or during pregnancy
  • What is genetic testing and what different types are available
  • Which factors should people consider when deciding whether to get genetic testing
  • What role does family history play in genetic testing
  • What can (and CAN’T) genetic testing tell you
  • What happens if you get abnormal results

Links Mentioned in the Episode

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Ep 146: What Your Genetics Can Tell You with Genetic Counselor Ushta Davar Canteenwalla

Nicole: You are going to love this informative conversation with a board certified licensed genetic counselor. Welcome to the All About Pregnancy & Birth podcast. I'm Dr. Nicole Calloway Rankins, a board certified OB GYN who's been in practice for nearly 15 years. I've had the privilege of helping over 1000 babies into this world, and I'm here to help you be calm, confident, and empowered to have a beautiful pregnancy and birth. Quick note. This podcast is for educational purposes only and is not a substitute for medical advice. Check out the full disclaimer at drnicolerankins.com/disclaimer. Now let's get to it.

Nicole: Hello. Hello. Welcome to another episode of the podcast. This is episode number 146. Thank you. Thank you for being here with me today. In today's episode of the podcast, we have Ushta Davar Canteenwalla. Ushta is a board certified licensed genetic counselor with over 16 years experience and clinical genetics. Ushta brings clarity and confidence about choosing the best genetic tests to women who are planning a pregnancy or are already pregnant. She knows that there are so many testing options these days, which is very true, but there's also very little support to understand the nuances, to ultimately help people decide what the best test is for them. She, she truly feels that women who are informed in advance about their testing options make better decisions, have more meaningful conversations with their OB doctor or midwife and are better prepared for potential curve balls. She has a ton of experience and it ranges from running a collaborative care, fetal diagnostic center at Columbia university medical center to working in a prenatal pediatric and cardiac genetics.

Nicole: She's also led a large genetic counseling team at a lab that offers reproductive genetic testing. Now in 2008, she founded find genetics with is an independent genetic counseling telehealth company that helps create greater access to genetic healthcare. So we have a really great conversation where we talk about what is a genetic counselor, who should consider seeing a genetic counselor either before or during pregnancy spoiler alert, most people should consider it. What exactly is genetic testing? What are the different types of genetic tests that are available? What are factors or things to consider that can help people decide whether or not to get genetic testing? What role family history plays in genetic testing and so much more as always, you are going to learn a lot from this episode. Now, before we begin the episode, just a couple of quick things, I wanna share some additional resources that I have for you beyond this amazing podcast.

Nicole: One is my fantastic birth plan class. It's called Make A Birth Plan The Right Way. Making a template or form of a birth plan just isn't gonna cut it. If you show up with that to the hospital and you haven't done any research or little bit of prep work in advance, you are potentially setting yourself up for disappointment. So in this birth plan class, you learn a step by step process in order to make a birth plan the right way and by right, I mean, it actually helps you to have the birth experience you want. So check out that class at drnicolerankins.com/register. And you can also check out my online childbirth education class, the Birth Preparation Course. The Birth Preparation Course gets you calm, confident, and empowered to have the most beautiful birth, especially in the hospital. It is exactly what you need in order to help you understand how your mind influences your birth, get your mindset, right, understand all the details of labor and birth. Get prepared for those possible curve balls and get you off to a great start postpartum. So you can check out all the details of the Birth Preparation Course at drnicolerankins.com/enroll. All right, let's get into our conversation with Ushta.

Nicole: Thank you so much Ushta for agreeing to come onto the podcast. I'm so excited to talk about this topic of, uh, genetic counselors and genetic testing.

Ushta: Yeah. Thank you so much for having me on I'm excited, um, for our conversation.

Nicole: Yeah. So why don't you tell us a bit about yourself and your work?

Ushta: Absolutely. So I've been a genetic counselor for over 16 years and I've worked in many different settings, primarily reproductive health, um, but also done a little bit of pediatric, cardiac, some cancer. Um, and a few years back, I started a genetics telehealth company to really help people get clarity on genetics questions in an easy and personalized manner. So, you know, I think if we think about it in the past five years, we've seen such a big boom in genetic testing and everything from what's offered to women in pregnancy to direct to consumer tests like 23andme. Yet, there's just been very little change in the way that we provide support for people who are taking these tests or even ordering these tests and the need for a better system, really stemmed from having multiple people and friends of friends approach me, um, saying, you know, I went to my doctor and there was a bunch of genetic tests.

Ushta: They talked about what do I do? And so I figured, you know, let's try to solve for this. You know, there, there are people who need this information. There are people who want to be connected and get more info on, on genetics. You know, people who know that there's something in their family history, but not really sure where to go to next. Um, and sometimes it's challenging to find a genetic counselor. So I just wanted to create a, a process and, and a method where it's easier to get connected and have questions answered and point people in the right direction.

Nicole: Yeah. I think this is so important because doctors don't get a lot of training on genetic testing and it's like you said, things have changed a lot and there's not necessarily a lot of time to discuss it. And the point that you made about there being like, you know, you can just go online and order all this stuff. Yeah. And then you get these results back and it's like, there's not necessarily a lot of information to help you interpret it. So, right. I think this is really, really important to help, um, prevent people from going down like a rabbit hole of craziness potentially.

Ushta: Absolutely. Yeah. And I think when we, when we think about it in obstetrics, right. The amount of time that, that you guys have to really talk to a patient in that early appointment is the same as it always has been for the most part. Right. But now we're, now we've added, like, let's add on five or six additional different testing options that, that are genetic related. And, you know, there's just, there's just not enough time to really go into the detail of everything. Right. Exactly. Exactly. I think that's where a lot of the frustration stems on both parts.

Nicole: Yep, yep. Yep. So I like folks to know, um, so they can have an idea of the people's training and background that got them to where they are. So what type of training did you go through to become a genetic counselor?

Ushta: Yeah, I mean, it's one of those professions that I think nowadays a lot more people hear, have heard about, but even five years ago, a lot of people had no idea what a genetic counselor was or, or what our training was. Um, so it's a, it's a master's degree. It's a two years master's program where there's an intensive, deep dive into genetics, but also the counseling and communication side of things since so much of what we do is delivering complex information and often stressful times. Right. So, um, one of the big skills that we learn is really how to empathically communicate, um, complex information.

Nicole: Perfect. Perfect. And so I guess you said that a little bit already about what genetic counselors do where they, um, it's not all all about genetic testing, but you also take into account like family history and risk and things like that. So what exactly, you know, what, what can people expect when they see a genetic counselor?

Ushta: Yeah. Yeah. And sometimes, you know, I think it's helpful to, to talk about genetic counselors in different settings that they work in. Right. So, um, so overall a genetic counselor is someone who's gonna to help take that complex genetic information and make sense of it in a way that's really relevant to you. So whether there's something in your family history, and we need to do, you know, a detailed family history, if there's a history of cancer, for example, and you wanna better understand what are my risks for having the same type of cancer that's happening in my family? Or could this be genetic, right. There are a couple people in my family history who have some of these health conditions. Is this something that I should be concerned about for risks for me or for my, my future children? Um, so really, you know, in doing a detailed family history, a lot of it is putting pieces together, which sometimes feels a little bit like detective work.

Ushta: Um, and then, you know, there's all different types of genetics. We obviously talk a lot about reproductive genetics, um, and then there's cancer, which are two of the main ones that we hear a lot about, but there's, you know, genetic counselors who work in neurogenetics, um, obviously pediatrics, right in pediatrics, if there's a child who is presenting with, um, potential concerns or complications in multiple different systems, right there, maybe there's an endocrinology issue. Maybe there's some issues with the eyes or development. You know, the big question there is, could there be something underlying a genetic change that's, that's causing all of these different things to manifest, um, or, or happen. Um, and often in genetic counselor's will work hand in hand or very close with a medical geneticist. Who's an MD, um, typically a, a pediatrician who's had specialization in genetics or an MFM, a high risk, um, OB doctor or an oncologist. So it really depends on the setting.

Nicole: Gotcha. Gotcha. So who should consider seeing a genetic counselor in the setting of pregnancy either before they get pregnant or during pregnancy?

Ushta: So I might be biased, but, but really, um, you know, everyone who's planning a pregnancy or in early pregnancy could really benefit from a chat with a genetic counselor. Um, but in all seriousness, the, the, the people that find their way to a genetic counselor prior to pregnancy, um, and have a chance to really hear all the different testing and potential results really feel so much calmer and prepared going into their pregnancies. They feel, you know, that, that they're more prepared when they're having that early conversation with their OB, um, that they know exactly what questions to ask, um, and what testing that they might be interested in and can be a little bit more proactive. Um, so just for example, just yesterday, I believe I saw someone who told me they felt so much better after speaking and understanding about all their options. Um, they had so much anxiety over genetic testing specifically, and potential risks. And, you know, she was, she was in the process of still planning a pregnancy thinking of it in the next couple months. Um, but she actually thought that all genetic testing was as you know, invasive and came with certain risks and she was very nervous about that. And she was really believed to hear that there were options to find out about certain, um, risks for certain conditions that were not invasive, that wouldn't pose necessarily a risk to the pregnancy.

Nicole: Yeah. I, I agree that most people could benefit from a chat with a genetic counselor, cuz it's just a lot more time to answer questions and lay out the exact numbers and scenarios and things like that.

Ushta: Yeah. And I think for some people they know, you know, they go to their doctor, they know exactly what they want and they're very clear on it. And I think other people really need a little bit more handholding and are struggling with what decision to make. And part of what we do is, you know, we'll go through like, what do these results, what would these potential results mean for you and how, how is it going to be meaningful for you to have that information? And is this information you want now or later on? Um, so there's just so many different permutations. Um, but really the people that, that should not bypass seeing a genetic counselor is anyone that has a family history of something that they're concerned of. Um, you know, if they're concerned for their own child to have, or inherit some of those things.

Ushta: Um, and then, you know, some of the red flags that we think about when we look at family history, or if there's any early childhood deaths in a family history, someone who couldn't walk, talk, hear or see, you know, trying to figure out if there could be underlying genetic conditions or, you know, even if there's someone who's had multiple miscarriages, right. We know that miscarriages are common. Uh, but when it happens, you know, more than two times, we start to wonder if there's an underlying genetic reason. So right. Those are all kind of all. And then obviously anyone who's received any abnormal results from, from test, uh, would really benefit from seeing someone.

Nicole: Gotcha. Gotcha. Gotcha. So what are the different types of genetic tests that are available?

Ushta: Yeah, so in, when it comes to pregnancy, I think the two big categories of testing is, is kind of broken into, are screening tests and diagnostic tests. And so one of the big screening tests that's available, and this is a test that can be done prior to pregnancy is genetic carrier screening. So this is a test that will look at changes in the genes that an individual or parent can carry conditions like cystic fibrosis or sickle cell anemia, kind of the more common conditions that we hear about. Um, and these are all conditions. The, the conditions on these panels are all that impact childhood health and wellbeing. So they're not looking for things like increased risk for breast cancer or risk for Alzheimer's disease, right? They're all childhood, um, conditions. And so we all have two copies of our genes. One we get from mom, one, we get from dad and a person who is a carrier, has a change in one copy of that.

Ushta: So the genetic carrier screening test is looking to if an individual has any of the, any changes in their genes that would make them a carrier. And the tricky thing that the thing I hear a lot is like, well, there's nothing in my family. Like none, no one in my family has any of these conditions. Um, but if you're a carrier you're healthy, you, you generally typically have no symptoms of being a carrier. And what that means is, you know, if you're a carrier, one of your parents is, and one of their, so for generations and generations, someone is a carrier in your family. And the only time it really becomes a concern is if both reproductive partners are carriers for the same exact condition, and then there would be a 25% chance to have a child that would be affected with that particular condition.

Ushta: Gotcha. So, so yeah, so those are carrier screening and, and those panels will vary greatly, right? So there's some that look at, you know, five, five conditions, some that look at 20 and some panels that will look up to 300 or 400 conditions and more, isn't always better. Um, a lot of these things are super rare and we're still learning about them. Um, and the key thing to remember is that, you know, negative results, you know, won't eliminate your risk. We always say the reduced risk and, and for various reasons, right? Like we might not even be smart enough sitting here in what is this October 2021 to know all the potential genetic changes that cause these conditions. Right. Um, so, so that's a good testing that I always say, carrier screening that people before pregnancy, because it really gives you good information that that can help, you know, uh, help dictate what, how you wanna proceed with management. Right? So if you find out that both you and your partner are carrier for the same thing, and this is before pregnancy, you can think about doing IVF and testing embryos and with the goal of only transferring unaffected embryos, right. Or if you do this early in pregnancy, you're getting information earlier, which opens the door for more options and finding information out.

Nicole: Gotcha. Gotcha. I will say that. Um, yeah, I didn't realize that there were that many things that could be tested for like 300 something or another that's a lot.

Ushta: Yeah. Yeah. There, there are a lot. And I think for, for a lot of the labs, it is kind of like a numbers game. Like, oh, well now we have 500 conditions or we have 510 conditions. Right. Um, and that's where I say more, isn't always better. Cause a lot of these things are so super rare. Sure. Um, and I think the tricky thing is we're still, you know, we've only just started doing expanded carrier screening robustly in the past, you know, five, seven years, um, in that, you know, some of these changes while we, that there's some reports of individuals who are affected with these conditions, we still don't know the full spectrum of, of what it could entail. So it does become, it has comes with its challenges. Right. Um, but yeah, yeah, there are some really extensive panels.

Nicole: And this will probably be good for people. Like if, you know, um, for example, if you're part of an ethnic group, for example, that's at a higher risk for Ashkenazi Jewish people like always comes to mind. Yeah. Or if, you know, like somebody has sickle cell disease in your family, you know, then it sounds like those would be options where it would be, um, more beneficial for sure.

Ushta: Absolutely. And I think, you know, traditionally that's where carrier screening has, has stemmed from, right. Like we would offer people just based on ethnicity based like, oh, you're from this particular ethnic background, but what we've come to realize actually, and, and where the benefit and expanded panels really come in is that a lot of people don't completely know their ancestral history and there's so much ad mixture, right. With which people from different backgrounds now, and it's hard to classify and I've seen people who, you know, didn't realize like, oh, I had no, yeah. That my one grandparent was Ashkenazi Jewish. I just thought they were, you know, Eastern European, but I didn't realize they were. So there's just, you know, the, the broader screening will pick up a lot of things that maybe people didn't even realize that they, that, that would've been a carrier for just based on ethnicity.

Nicole: Gotcha. And then does insurance typically cover carrier screening?

Ushta: So it, it depends, I'd say, you know, most insurance panels, uh, insurance companies are covering, um, basic carrier screening. Um, but nowadays more and more are starting to cover expanded carrier screening. Um, the challenging part also is that I've seen some couples tell me that their insurance policy won't cover carrier screening unless they are pregnant. Um, so I always tell people if you're thinking of it, it's always best to just double check with your insurance company, cuz they can be pretty costly tests or contact the labs. The labs often are super helpful with getting you some information on whether not your insured, like what you're out of pocket might be.

Nicole: Gotcha. Gotcha. So then that's carrier screening. So what about tests during pregnancy?

Ushta: Absolutely. Yeah. So then there's, then there's screening tests that look, um, while you are pregnant because we need information from the pregnancy to get that information. And those are things that will look for. Um, the risk for certain chromosome changes, things like an extra chromosome, and, and that testing, you know, there's, there's different screening tests that are, that are available. And we, you know, this ties in a lot with mom and mom's age, right? We hear so much about mom and mom's age and, and how the risk for chromosome abnormalities or extra chromosomes occurs the older a woman gets. Um, and so typically a lot of this to testing would, some of this testing would be offered to women over the age of 35, but a lot of it is offered to everyone. Um, so there's first trimester screening, which has been around for a really long time, right?

Ushta: And this is, you know, a, a blood test and it looks at proteins made by the baby, circulating your blood, combines it with nuchal translucency scan. It comes up with results for usually three of the more common chromosome changes that could occur in a pregnancy. And the results that you would get from this are either if there's an increased risk or decreased risk for these conditions, or they'll come up with a ratio like a one out of 200 chance or a one out five chance that a child could be affected with that condition. Um, and the, the key take home message with, with this test is that, you know, if the results come back as increased risk, um, to know that there is a next step to confirm the results, you know, we see, we do see a lot of false positives with it. Um, so it can be alarming when you're receiving these results. And I think it's comforting when people know in advance that this isn't the be all and end all, if it comes back as increased risk, we need to learn a little bit more and do further testing to confirm that that result

Nicole: Gotcha. And usually for trisomy what 13,

Ushta: 13, 18 and 21. Yeah. So those are the three more common ones that it does look for. And, and the test is, um, it, the detection rate is much better for trisomy 21, which is also down syndrome, um, than it is for some of the other trisomies. Um, and then there's a newer test that's come out called N I P T or noninvasive prenatal testing.

Nicole: Which everybody seems to be getting. People keep calling it the gender test,

Ushta: The gender test. Yeah, yeah. Um, which, which, yeah, which drives some of us a little bit nuts, but, um, but for, for different reasons, but, but basically that the N I P T or noninvasive prenatal test and, and the labs will, every lab has its own name for it. Um, but, but basically this test similarly looks for the risk for some of the more common chromosome changes. Um, but it has a much, much higher detection rate and a much lower, false, positive rate and a higher positive, predictive value. So meaning that if a result does come back as positive it's, um, it's a, a higher likelihood that that's a true positive. And the reason that this test is a much, um, from a technology standpoint has a higher detection rate is because what's happening is that cells from the placenta have naturally crossed over into mom's bloodstream.

Ushta: So when we draw mom's blood, we're seeing a combination of maternal DNA and fetal DNA. And from that fetal DNA component, we can assess that risk. Whereas with the other screening tests, first trimester screening, which is essentially looking for the same conditions, you are looking at proteins that are made by the baby circulating in your blood and plotting it against how far along you are in the pregnancy. Um, so obviously looking at the fetal DNA component tends to be a more accurate measurement, um, than the proteins. And that's why, why there is a higher detection rate with N I P T. Um, the N I P T test also does look at the X and the Y chromosome, which, which is where the gender portion of it comes from. Um, but, uh, I think the reason why some genetic counselors will cringe when people, when we hear it as the gender test is because, um, you know, I think a lot of people go ahead and have the test thinking that it's just for the gender. And then they find out that there is some concerning information that comes up that maybe they didn't wanna know, or, or that they were alarmed with, or they didn't have a full reason that, that that's what I could get that information for. So I think it is, um, it's important to let people know that it's a test that's looking for for health reasons, not just to find out the gender, but that is an added benefit that you do get to find out the gender with this test.

Nicole: Yeah. That, that one frustrates me. Yeah. Like it's not just for gender, like it's for more, I mean, that's like just a, you know, as an aside, it's not like a primary reason to do the test.

Ushta: Right. And it, and it's not a hundred percent. Right. So you, you sometimes run into to, you know, people have their anatomy scan to find out, but the gender test told me it was going to be, you know, this, and now this is telling this. And so yeah. Whole host of other issues that could come up.

Nicole: And would you say that in general, most people are getting away from doing nuchal translucency and, and most people are doing N I P T?

Ushta: Yeah. It's a good question. I think, um, it runs the gamut and I think it probably depends on where you live and the access to N I P T. Um, so I think the benefit of, of doing what, uh, one of the, the benefits of like telehealth and what I've seen over the years is that, you know, I'm realizing that the information that women receive across the nation greatly varies. Right? Mm. Um, so some people, you know, don't even know that N I P T is an option and they might be 37, 38 years old. Um, which, which is surprising. Right. And I think, um, so, so I think, and NT nuchal translucency is still there. I think there's still value in it, obviously, because with the NT, it's not just, if it's elevated, you know, sure. That gives us clues that it could be an increased risk for trisomy 21, but there's also a host of other UN like other genetic conditions that would have an increased NT, um, that otherwise, if we didn't do it, we might potentially miss. So it does have its own kinda place, um, for, for still doing the NT. But I do see a lot of places now that that women are offered, you know, either you're doing the N I P T or you're doing first trimester with NT, but you're not doing both. Yeah. Um, is kind, and part of it just might be a big insurance game too. Right. Like what will insurance covers?

Nicole: So that's true. That's true. And plus the, the, the nuchal translucency does require a sonographer who has those skills. So if you don't have that person available, then that can make it more challenging. Yeah. So there's that test then? There's the N I P T. And then what else?

Ushta: Yeah. So I think the big take home message for the screening test is that they're not gonna look at all the chromosomes, right. They're just looking at the few that are most likely to be abnormal in a pregnancy. They don't give you concrete yes. Or no answers. They're gonna give you a risk estimation or increased risk. Decreased risk is how the, the results are gonna come back. Um, and bottom line, is it, if any of these tests come back as increased risk, even the N I P T it's super important to know that there is another step to confirm those results. And that's the third kind of category is the diagnostic testing.

Nicole: Oh. You know what, and I'm sorry, real quick. I forgot to say how up until what gestational age can you do the N I P T?

Ushta: Yeah. So you can start it at any point after nine weeks gest. Okay. Um, and then the upper limit, you know, I, I don't think there is like a absolute cutoff for the upper limit necessarily. Okay. Um, so you're, you're able to do it kind of, well, you know, you can do it in the second trimester. There's no. Um, the, the downside obviously is the later you do it, the later you're finding out information. Sure. So ideally if we can get people in around nine weeks to get it done, that's the ideal scenario, because then it certainly opens up the door for, um, additional, you know, diagnostic testing options, like doing a CVS or an amniocentesis. And CVS is just an earlier in the pregnancy than an Amnio. So it might give you an opportunity to still do a CVS rather than wait until 15 weeks for an amnio.

Ushta: Um, and so these tests that I just mentioned, the CVS and the amnio, those are kind of what we would refer to as diagnostic tests, meaning they're gonna give you a concrete yes, no answer about the chromosomes. Um, and so the, the downside with these tests is that there, there is a risk of complication that could lead to miscarriage because they're invasive, there's a needle that's going in. Um, you know, either through, through your abdomen or, or Trans cervically, um, taking a bit of the fluid that's surrounding the pregnancy or a piece of the placenta in the case of the CVS. So the number that's typically quoted, I've seen it range anywhere from one out of, you know, 300 to one out of 900 risk of complications that could lead to miscarriage. Um, so every center will have their own numbers that they feel comfortable quoting.

Ushta: Um, and they're safe procedures. You know, my recommendation is for anyone who's doing it, just do it at a place that's doing it day in and day out. Um, and those kind of help mitigate some of those, those risks. Um, but a big question is, you know, what will that information will that information that you are getting from this test be meaningful to you and is that information you want, um, there's also, you know, while the results from these procedures are gonna give you a picture of all, you know, all 23 pairs of chromosomes, you can need even do additional testing, like chromosome microray, which looks at small deletions and duplications, um, within those chromosomes as well, which we know aren't necessarily age related. Um, so those there's additional information you can get from the amnio and Cvs.

Nicole: Gotcha. Gotcha. So you start with this screening test, and this is really important. I think people get confused a, a lot the screening tests, just tell you whether or not you're at an increased risk of a pretty actually narrow, specific set of issues with chromosomes. Correct. And then if you see something that's abnormal, then you get a diagnostic test, the CVS, which is chorionicvillous sampling. Don't know if we said that or not?

Ushta: Yeah, no, I did not. I'm sorry.

Nicole: No, that's OK. I could, you know, sometimes we, we, when you talk to somebody who, you know, understands the language, you forget to that, everybody doesn't understand what we're talking about, but yeah. That's actually taking a piece of the placenta or, um, the amniotic, the amniocentesis to get some of the fluid to do a, a, a diagnostic and actually look at the chromosomes themselves. So you're gonna get a more complete answer. Yeah. Absolut. Absolutely. Yeah, yeah, yeah. And does anybody do, um, what is it called? Um, the, we used to do like AFP

Ushta: And, um, yeah. Yeah. So those that still is, is around. So AFP is, is alpha feta protein, and that's a protein that's, uh, circulating in, in basically the spinal column. So it's typically done in the second trimester where it's detectable kind of, um, later on in pregnancy. So if it's elevated, it would give us clues if there are any openings in the body cavity. Gotcha. So that is still being done. Yeah.

Nicole: Okay. Okay. So for the typical person, and they're probably gonna be offered, um, either the first trimester screening or the N I P T, and then of course an ultrasound can help with categorizing some of the risk as well.

Ushta: Yeah. And I always tell people, you know, the window to have an amniocentesis or a diagnostic procedure doesn't end, you know, early in pregnancy. So there's multiple checkpoints within a pregnancy. Right. And so, like you mentioned an ultrasound, um, an anatomy scan that's typically done between 18 and 20 weeks is really taking a head to toe assessment of the anatomy of, of the pregnancy. Right. So we're looking at the ventricles of the brain, the chambers of the heart, the limbs. So if there's anything concerning that comes up there, the option to do an Amnio still remains. Right. And I think the reason for that is at least from a genetic perspective, if, for example, we see a heart defect, what we wanna better understand is, is this an isolated heart defect, or could it be part of a larger syndrome that might involve other symptoms like neurological symptoms or other developmental symptoms?

Ushta: Um, and based on that specific heart defect, we can sometimes have clues on, could there be specific genetic tests that we offer you to confirm the, that, to confirm what this might mean? Um, so there's always a chance to kind of revisit some of these testing options, but yes, so most people in pregnancy will be offered, you know, the, the screening tests, whether first trimester N I P T but I think some people will still say, you know, for me, it's important to know as much information as possible. And I understand that these screening tests are just looking at a small snippet of things and I wanna mitigate as much risk as possible. Um, and I'm okay having a diagnostic test that will give me that information. So there's really no right or wrong answer. It's just, you know, what's right for you, um, in your pregnancy at that time.

Nicole: Yeah. So I guess that, that answers the question. Does everyone have to have genetic testing?

Ushta: Um, no, I mean, I think it's a completely your choice, but often I find that people don't even know that they're getting genetic testing. Right.

Nicole: Hundred percent saying hundred percent. It's just like, oh, here's the slip and go get it.

Ushta: Right. Right. Um, and I think of it, you know, even, even when I went through all three of my pregnancies, right. So it says like you're sitting there in, in early pregnancy and you're getting tons and tons of vials of blood taken out. And, and a lot of this is, you know, checking your iron levels and your thyroid levels. And Hey, guess what? There's genetic testing bucketed in there as well. Um, so it's just kind of routine where you just stick your arm out, you get your blood drawn. And, and women we're so used to sticking our arm out and getting our blood drawn during pregnancy that we don't even stop to think about it. Um, and then often I find that people don't even know that they had some of this testing until it comes back abnormal. Um, so when I ask the people like, oh, do you know if you had carrier screening or do you know if you had, you know, um, first trimester screening, its like, I don't know, let call my, let me call my practice and see, and they're like, yep, yep. I had it. But everything was fine. So no one really, like, there was nothing that no one had call me about it.um, so, so it is completely your choice. And I think this is where it is beneficial in finding out information in advance, because then you can really be informed as to what is the stuff that really matters to you. And do you want this information or do you not want this information?

Nicole: Yeah, I think that is so important because we really should not be doing these tests just sort of reflexively because it's, it it's honestly, um, you know, when you get the normal results, that's easy, it's when you get abnormal results and trying to think through what you want to do in that circumstance. And you need to think about that actually before you get any of these tests, um, because it can be anxiety provoking. Yeah. If, when you are presented with something that's abnormal.

Ushta: Yeah. And I think, you know, I'll always remember this one conversation I have had with someone who received, um, abnormal screening results. She said, I wish I had known that, you know, I wish someone had talked to me about this before and talked to me about what the potential results could be, because when I got that result, I automatically thought my baby a hundred percent has this condition. Like, I didn't even realize that there was a next step that I have to do to confirm this. Like, and knowing that just gives me a little bit of comfort and ease that this, this may not be the be all and end all that. There could still be hope. Right. Yeah. Um, and so I think having an understanding of what, what it do, these results really mean, you know, what, what information is it giving us and what information is it not giving us

Nicole: A hundred percent? And then, you know, you, so you get the test and then you can get the, the confirmation, which will tell you for sure, with amniocentesis or, or, uh, or, or CVS, but how, how I, I wanna back up and say, like, what percentage of people, when you have an abnormal result actually do go on and have an actual condition, cuz I don't believe it's actually that high.

Ushta: It depends on the test. So I'd say, um, with N I P T if it comes back as increased risk for, for down syndrome, the positive predictive value is, is really high for that. So, you know, when I see a result that's positive from N I P T I'm a little bit more serious about that, that, you know, there's a high likelihood that this is an actual result. This is an actual true result. We still need to confirm it with the diagnostic test. Um, and so that would be kind of, um, it just, it depends, there be a couple factors that depend part of it will depend on, um, the specific lab, the sensitivity and specificity of the lab, um, that the lab has for their data. And then also maternal age will kinda, uh, take into account what that number would be with first trimester screening.

Ushta: Um, it is going to be much less likely that a positive result is, um, is an actual and a lot of that is also again, age related. So if, and what that number is, right? So the first trimester screening will give you more of a number. It'll be like a, if the ratio comes back as like a one out of five chance, then we start to wonder like, okay, you know, could this really be a true result? Um, you know, you're 38 and you have a one out of five first trimester increased risk. Um, and then some people might decide if they have first trimester screen then to do N I P T to get a little bit more clarity, um, and then make decisions on diagnostic tests from there too

Nicole: Gotcha. Gotcha. Yeah, I guess, yeah. I'm dating myself a little bit, cause I'm not in the office anymore. I only work in the hospital as a hospitalist, so I don't order these tests anymore at all. Yeah. Um, but I forgot the N I P T it looks at DNA

Ushta: Yeah. Yeah. So that's why it's that much more accurate, right? Yeah. Yeah.

Nicole: So what are some things you tell people, um, that they wanna consider to help them decide whether or not they get genetic testing?

Ushta: Yeah. I think the big one is, you know, is this information, ask yourself, you know, is this, I want to know and what would I do with this information? Is this, is this information gonna be meaningful for me? Right. Yep. So like great. You know, um, and, and it's not always about, I think there's always this discussion on like, is it about continuing a pregnancy or not continuing a pregnancy? It's not always about that. Right. And then for some people it is right. So for some people they say, look, if I, if I have an abnormal result and there's a chance for my child to have, you know, a genetic condition, um, I'm, we're choosing to not continue a pregnancy. And for other people it's about, you know what, Hey, I, I don't know what I do. And I think the reality for a lot of people is until it's, it's a, until it's a realistic situation for you often, we don't know what we would do.

Ushta: Right. Cause everything is so hypothetical. Yep. Um, but for a lot of people it's about planning or being prepared. It's about knowing that like, Hey, if there is this increased risk for something to happen, I wanna be prepared. I wanna know if a, I need to deliver at a tertiary hospital, there might be services that can help me out and help my newborn out. I wanna be connected with other parents who have a child with this so I can know what to, you know, what to do. Um, and a lot of times knowledge is power. Like if you know that there's an increased risk for your child to have a certain condition, um, some things may not even present until your child's a few months old or a few years old. Right. And so that your child might have a particular condition, allows you to be proactive with the pediatrician and the pediatric team. And to know that you're getting the right services at the right time. Right. Um, that if there is certain delays that it's not just like, oh yeah, let's wait a couple years and see if this is true delay. Like everyone develops at their own rate. But if you know that this is part of a larger thing or syndrome, you are getting that service earlier. Um, so I think those are kind of the, the thought processes that we go through when we're chatting with, with people.

Nicole: Yeah. Those are all like excellent points. Um, and yes, it is to some degree, you know, how you would manage the pregnancy in terms of whether you would continue the pregnancy or not. But there's definitely a lot to be said for being prepared and being the facility that can manage any issues that yeah. Come up. So, um, I, I find, I think generally, um, most people tend to want more, um, information, but really it is a personal choice and it can, it, it can make a difference in terms of being in the right place because not every hospital and labor and delivery is gonna be able to deal with all issues the same. So, um, in that respect, it can definitely be helpful.

Ushta: Absolutely. Yeah. Um, and, and then, you know, what's, what's so in what I would find so fascinating is that, you know, I've probably talked to hundreds of couples for the same exact thing. Right. And, and everyone has come to their own conclusion very differently. It, it's just, people can be presented with the same information in the same scenario and everyone's gonna come to, to what is the right answer for them. Yeah. Right. Yeah. And often people ask me like, well, what, what would you do? Like what, what should I do right. Um, and that's a tricky one. Cause I think the reality is like, I, what I've been talking to you for maybe the past 10 minutes, I don't, I don't know anything about your whole like life in your support system. Like you are the best person to make this decision.

Ushta: Like I will, I will help guide you to that, but right. Um, but trust that you're gonna make the right decision. Right. It's um, it it's a tough one because exactly a lot of people will make decisions based on their own perspective too. Right. So I think I, I recently chatted with someone whose sister has a genetic condition and she wanted to understand her risks and potentially do testing. And, and for her, it was, you know, I've lived this, like, I know what this is like, and I, and I don't wanna bring a child into the world who has similar complications. Right. Right. Um, and other PE, and so I think perspective is a lot. Right. And, and that's going to vary from person to person. Yep. Um, and, and for other people, when it's, when it hasn't been a reality for them, it's, it's, it's, it might be a very different situation. So it's, um, everyone's story is different. Yeah.

Nicole: For sure. For sure. Now, um, I know the answer to this question, but I want you to say the answer to this question. Okay. Genetic counseling, genetic testing, tell you every possible thing that could be wrong with your pregnancy?

Ushta: No.

Nicole: If you, if you get normal results, does that mean that you are not going to potentially have any issues arise?

Ushta: Right. I mean, I think I, I wish there was, right. Like I wish there was a magic test that we could be like, yep. Everything's great. Um, there will be no issues for the remainder of your child's childhood and adulthood. unfortunately there isn't. Right. So I think the genetic testing that we have can look for risks for some of them know the things that we know, right. Like for, for carrier screening, we're looking at changes in genes for things that we know cause, um, cause known diseases and conditions. Um, you know, for the chromosome testing that we get from assessment that we get from screening, like N I P T and then information we get from amino, there's St there's just certainly information we can get on chromosome risks and even micro deletions and duplications. That could be pretty severe conditions, but we're not, there's no way for us to look for everything.

Ushta: Um, I think what's helpful sometimes is hearing it, these example, like I, I get a lot of questions about, you know, can you can genetic testing tell me about autism, right? Like, is there a test in my pregnancy that I can do to see if there would be an increased risk for autism? Um, and autism is one of those conditions that we're, we're still learning a lot about the genetics of autism. Um, but there are many different genes that are involved. So it's not like a, not like we can pinpoint and say, yep, in this particular chromosome, this particular region is the gene for autism. And if we test for it, we can tell you yes or no. Um, so, you know, because there's just so many different genes and we're still learning about it. There's no one magic test that can give us risk assessment.

Ushta: However, if you know, there are, you know, autism can be part of, um, other genetic conditions and, and syndrome. So if there's other things that are going on in a family history, maybe there is a more specific test that we could do. Um, but in general, no. Right. So there's um, and a lot of things are like that. A lot of things are also multifactorial, meaning that there's genes and environment that come into play that even if you have a genetic change, doesn't necessarily mean you're gonna of that condition that's gonna happen. Um, so it's tricky. Right. Um, and I think there's comfort for a lot of people in knowing that, Hey, you know, I've done all the testing that I could have done, that's available to me. And, and that's the control that we get, right? Like there's so much that's out of our control with pregnancy and life in general, that for a lot of people, the process of even hearing the information is what allows them to feel in control and be in control. And knowing that like, Hey, I did the stuff that I could, that makes the most sense to me. And now it's just, you know, now we just move on.

Nicole: Yes. That is a really, really important point control what you can and some things you can't control. I think a common thing that I would see is that people would be frustrated or surprised with if later down the lines like, oh, we see, you know, potentially something in the baby's heart or we see something in the baby's brain on the ultrasound and they're like, well, wait, I had no genetic testing and it, that it just doesn't look for things. Yeah. Like that, that you just have to be prepared for that possibility.

Ushta: Yeah. And I think we got that a lot with, um, with the screening test. I like with N I P T being like, well, I did the genetic testing and everything was normal. Right. And so I think it's, again, where that it was the failure of initially getting the right information at the beginning, knowing that like this test is looking for some very specific things. It is not looking for everything. Yep. Yep. Um, and so I think it's just kind of like, well, I was presented to this as the test, as the genetic test is gonna look for everything. So, um, it's just managing those expectations.

Nicole: Yeah, absolutely. Absolutely. Okay. So we've talked about the different types of tests, what, with the results, um, all of those things. So I wanna finish up by talking about, uh, is it covered by insurance? So what type is genetic testing covered by insurance and then is seeing a genetic counselor covered by insurance?

Ushta: Yeah. So I think that the testing part will vary from provider to provider, but, but all provider, all insurance policies should be covering at least first trimester screening. That's just kind of standard of care. Um, so they will cover that N I P T will vary. So I think, you know, um, a few years ago they were only covering it for women who were deemed high risk women who were over the age of 35. Um, and so if you were under the age of 35, it, they just were not covering it. Now I'm seeing a big shift where insurance companies are covering it for, for all women regardless of age, just cause it is a test that has a better detection rate. Um, and so other testing carrier screening, I think it'll run the same, like a more limited panel. Most insurance companies will cover the expanded panel.

Ushta: Some of them will, some of them won't. Um, so it really does vary. I've seen, I've seen kind of all permutations with coverage for, for testing. Um, and oftentimes I tell people, you know, the labs are very helpful. If you call them, they should be able to give you good information based on your, based on your plan. Um, and then for genetic counseling itself, um, in speaking with the genetic counsel, in many cases, it, it covered, um, you know, genetic counsel will work part of large, um, maternal fetal medicine or OB groups. Um, but some policies tend to be a little bit more stringent for the reason for seeing a genetic counselor. And they only covered if there's, you know, if there's an increased risk detected. Um, and then, you know, other, uh, like for myself, I, I don't accept insurance partly because the administrative costs, um, for, for kind of a, a small independent practice like mine, which is far exceed any potential reimbursement that I would get. And then therefore I'd have to charge people more. So it, the model doesn't work, um, right now from me and, and it may change, you know, as things change.

Nicole: Yeah. But that, I guess people can always submit to their ins. Like, it doesn't necessarily mean that it won't be covered. It just means that yeah, yeah, yeah. That you're not, um, doing with the admin dealing with the administrative piece.

Ushta: Exactly. Yeah, exactly.

Nicole: Yeah. Yeah. And yeah, I was surprised, um, I think people I've had some people message me and say things like, well, I was surprised I got this, you know, $150 bill for the N I P T testingyes. Um, it's not always covered by insurance. You wanna check.

Ushta: Yeah. You definitely wanna check. And I think, um, that sometimes is a topic that, well, I, I, a lot of, a lot of OBS and people who are ordering the test are very cognizant of and like let people know front, but often there's, you know, I had no idea if I knew it would cost as much. I wouldn't have done it

Nicole: Yep. Yeah. So as we wrap up, what is the most frustrating part of your work?

Ushta: Yeah, I mean, I think with genetics in general, we've come so far, um, in terms of what we can do in the technology. And it's, it's quite amazing, but there's still so much we need to learn. Um, I think one of the more frustrating situations that I deal with is when, um, you know, when both partners are carriers for the same condition, you know, often if, if it's a super rare condition, we might have limited information on what that, what that particular condition may even look like. Right. And, and the one thing I like to remind people is that, you know, we're putting things on these panels that are, you know, published in the literature. So say there's something with literature where we found a specific change in a gene that causes these specific, you know, symptoms. And now that's published. Well, that's probably the worst case scenario that came to medical attention.

Ushta: But what if there are other people that have this specific change that are very mild and we just don't know, cause we haven't done broad level screening of everyone in the population to see like, what are some of the more common variants that we, that we might present. And so I think those are some of the more frustrating situations. And I think, you know, the other thing is, um, you know, initially when I started out genetic counseling, I see this with a lot of new genetic counselors is that there's this frustration where you feel like, okay, I C I wasn't able to give that couple an answer as to what's this in their pregnancy or what is causing that in the child. We couldn't figure that out. And that's really frustrating that we just couldn't get an answer. But I think over the years you realize that like the value in the work that you do, isn't always in getting someone an answer, right. It's, it's working with them through that process. Um, and being that support for them and helping guide them. And I think it's being realistic that sometimes we get answers and sometimes we don't. Right. Um, and, and, and there's still a whole lot of value in what we do as genetic counselors, even if we don't give a concrete answer

Nicole: 100%. Yeah. Yeah. You can't always give a definitive answer. Same thing with pregnancy. It really same thing with life let's be honest. Right. Yeah. I know. But sometimes it's, but not sometimes it's often helpful to have as much information. Again, it helps you control those things that you can control when it feels like things are not in your control for sure. Yeah. Yeah, absolutely. Yeah. So, and what is the most rewarding part of your work?

Ushta: Yeah, I mean, I think it's just being a voice of calm and clarity and support often during a really stressful time in a couple's life when it comes to, you know, specifically in pregnancy, is that to be able to, to give information, to break it down in a really easy to digest manner where people are like, ah, okay, I get it. Like, that's what that it's looking for now. I know what to expect. Yep. Um, or, you know, thank you for explaining like these particular results that were abnormal. Like what does that really mean? Um, I think that that's always just really rewarding to know that you you've helped clarify things for people that have made their lives. Um, a lot more feel felt like supported and controlled.

Nicole: Yeah. Yeah, yeah. I can imagine you do a fair number of interpreting like numbers. Like, oh my God. They said, I have a one on 100 risk of something and you're like, well, that's 1%, so right, right, right there. A 99% chance that you don't so

Ushta: Exactly, exactly right. Yeah.

Nicole: All right. So what is your favorite piece of advice that you would give expected families?

Ushta: Yeah. I mean, what we've probably spent, um, the past 30 minutes talking about all the stuff that goes wrong in a pregnancy. Um, and I think the big piece of advice I always like to tell people is that, you know, we talk so much about what can go wrong in a pregnancy that we fail to realize that the vast majority are gonna be perfectly fine. Right. Um, yes. And it's, it's, it's hard not to see the larger picture. When's so much of what we offer when comes, you know, when it comes to genetic testing can seem so scary. Right. But I always like to remind people like this is just the one to 2% of things that can go wrong in a pregnancy and, you know, even a woman, well, into her forties, the highest chance is that she's gonna have a healthy pregnancy.

Ushta: Right. Um, so I think I always like to impart people with like, okay, yes. That, that is a good to, to look at things from. Um, and then, you know, I think the other thing that I always like to tell people is that, you know, trust that you're making the best decisions with the information you're given, right? Like make a decision, feel confident about it and trust that that's the best one and don't look back, right? Like there are gonna be a thousand different options that it might seem like a thousand different options that are being thrown your way, but feel confident that you're making the right decisions for you in that moment with the info you have, um, and, and, and run with that. Right? Like that that's feel good about that. Um, and the very last thing that I always like to tell people, and, and this is when, if someone finds themselves with results that are unexpected or troubling, is that, you know, you know, please know that there's absolutely nothing you do or don't do that causes a genetic condition or a change to happen.

Ushta: Right. Like we can't control our genes anymore than we can control how tall we are, the color of our eyes. It's just, it's nothing you did or didn't do that caused it. Um, and, and I see that a lot. I think, I think women in general, we tend to look for like, not, not necessarily blame, but like, look for like, what caused this? Like, is it because I didn't eat right. Is it cause I didn't exercise. Right. Is it, cause I slept in a funny way, is that what caused this to happen? Like it's none of that. Right. It's just, it's out of our, it's one of those things that are out of our control.

Nicole: Those are all man. Like it's such excellent, um, pieces of advice. I can't like overstate those and know how important all of those are. Cuz it's easy to get, you know, try to worry that you did something wrong. It's we have this, um, sort of irrational focus like, and it's a little bit arbitrary if you're over 35 or if, you know, things are gonna be a disaster and they're actually not going to be for the vast majority of people, you know? So just a reality and um, and then just trusting yourself. That's I mean, I, I love all of those pieces of advice, so yeah. So thank you for sure. Absolutely. Um, where can people find you?

Ushta: Yeah, so, um, easy way is just online. I have, my website is www.findgenetics.com. Um, so that's, that's my telemedicine practice. Um, and you can email me directly at info@findgenetics.com and then on social media, it's just find genetics. Perfect.

Nicole: And we'll link all of that up in the show notes. Well, thank you so much for agreeing to come onto the podcast. I so appreciate your time. I know folks are gonna find this information useful.

Ushta: Thank you. I appreciate the opportunity to be here and, and to share, share some of what I do.

Nicole: Okay. So wasn't that a great conversation. She is very passionate obviously about what she does. Very smart, very well informed. So I, I appreciate her coming on the podcast and sharing her information with us and definitely look her up. If you're interested in independent genetic testing, as she offers telehealth services. Now, you know, after every podcast episode I do something called Nicole's Notes where I talk about my top three or four takeaways from the episode. And here are my Nicole's Notes from my conversation with Ushta. Number one, I want you to remember, and I believe I said this in the episode, but most pregnancies are actually normal. And most genetic testing is actually normal. However, there are instances where it may not be normal and that is where education is key in being prepared and understanding the possible things that can happen. And that goes to point number two, and that is get informed about tests before you have them.

Nicole: So you understand what to do with the results. So going to it, knowing that most likely things are gonna be normal. Most of the time testing is going to be normal. However, if it's not, then you know what to expect, because honestly, when you find yourself in that situation where you have an abnormal test, it doesn't feel like it doesn't feel like good or necessarily like helpful to understand. Well, like most tests are normal. Okay. When you get into it, then it's like either it's some normal or it's not normal. And I'm speaking from personal experience with my first daughter, we had some testing that gave an increased risk potentially for, uh, down syndrome based on her, um, intestinal malformation that she had. So I ultimately underwent amniocentesis in order to have, um, definitive genetic testing there weren't N I P T test back then that was 14 years ago.

Nicole: So I underwent amniocentesis. And in that moment, it can feel very scary and things can feel uncertain and you're going to feel much less uncertainty. You're gonna feel better about things if you're prepared for the possibilities. I mean, you're completely blindside blindsided because you didn't understand anything about the test or the results then that can make the whole situation worse. So get informed about the test before you have them know that most likely that's gonna be normal, but because you're informed, you're going to be prepared and ready just in case. And just such as, and just at, as an aside, I'm like tongue tied today just as an aside. Uh, at least for me, amniocentesis was not very painful. It really is just a little tiny, thin needle that goes into your belly. You feel it, but it wasn't very painful if that's something that you end up having to do or something that you are considering.

Nicole: Okay. And the final point from my conversation is just control what you can control, what you can, you can't control genetics. You can't control the outcome of the test or the results. Genetics is something in particular that is completely out of your control. But again, you can control how informed you are about the process. And that's actually where I think genetic testing and information can be helpful because when you have more information, knowledge is typically power knowledge helps you to get prepared. Knowledge helps you to understand what you can control and what you can't control. That's also why childbirth education is so important because you can't control the outcome for your birth, but you can certainly control how prepared you come to the process and how ready you are to deal with any potential curve balls that may come your way. So, um, in regards to childbirth education, of course, check out the Birth Preparation Course, drnicolerankins.com/enroll. It will definitely help you control so much, uh, about how you are prepared and really make sure that you are fully prepared going into your hospital birth in particular. But again, in respect to genetic testing, it allows you to control the information that you know, and then again, be prepared for any possible curve balls that come your way. All right. So there you have it. Do me a favor. If you like this podcast, share it with a friend. Just tell 'em to go to my website, drnicolerankins.com and they can find the podcast links there, or just tell 'em to look up All About Pregnancy & Birth in their favorite podcast app or player. Also be sure to subscribe to the podcast wherever you're listening to me right now. And I love it. If you leave an honest review in iTunes, it helps other women to find the show helps the show to grow.

Nicole: And last thing, come check me out on Instagram. I'm there @drnicolerankins, and I do what I call "office hours". And I put that in quotes. I know you can't see my air quotes right now, but I put that in quotes because it's not true office hours. I'm not providing medical advice, but it is a great place for you to ask me questions for us to continue the conversation beyond the podcast and connect. So that is it for this episode, do come on next week and remember that you deserve a beautiful pregnancy and birth.