before we kick off the episode. I'm excited to share that Kourtney Kardashian recently featured myself and DNA today in an article on push, which is her health and wellness website. The article is titled how genetics play the ultimate role in health. There's a link in the show notes and on our website DNA podcast dot com. If you want to check it out such elements. Hi, you're listening to DNA today a podcast and radio show where we discover new advances in the world of genetics from genetic technology like CRISPR to rare diseases to new research. We have you covered for a decade. DNA today has brought you the voices of leaders in genetics. I'm cured. I mean I'm a certified genetic counselor and your host, the big biology podcast dives deep on some of the most provocative and exciting topics in biology today in a fun and accessible way in each episode's host art woods and marti martin. Biology professors themselves talk to leading scientists and journalists from around the world about the biggest, most cutting edge topics in biology.
From human consciousness, human origins, new directions and evolutionary theory to the emergence and spread of zoo tonic diseases like covid 19 and much more Whether you're a researcher, teacher student are simply curious about science and biology. You'll love the entertaining and deep conversations about biology and the exposures to the research. They bring learn more at big biology dot org and subscribe rate and review on Spotify, apple podcasts, google podcasts or wherever you get your podcasts, Be sure to head over to our social media. We have a giveaway to go with this episode, search DNA on twitter instagram and facebook and find a picture of a material kit there. You can enter to win your own carrier screening just like the one I did that I'm about to share in this interview, joining me now is dr Kathy salary, she is the chief medical officer at Matera Matera has at home reproductive genetic testing including non invasive prenatal screening and carrier screening, which we're gonna dive into. And this is an area that I'm very passionate about and talking about every day as a prenatal genetic counselor.
Um but thank you so much for coming on the show. Thank you for having me here. So I wanted to start by talking about the inspiration for starting mitterand. Is there like a reason for the name? Um well, I'll answer the second question 1st. So Mattera actually is uh the Greek word for mother. So when we were looking for names, we we're looking for something that we thought was suitable and really since mother is really central to what I've spent my career and dedicated to, it seemed like an appropriate name for the company. Um in terms of inspiration and kind of the backstory behind the company, I'm a maternal fetal medicine physician by background. So have spent several years in training. Um really trying to identify risk in pregnancy and risk stratification and appropriate management of pregnancy to better outcomes. Um have spent several, several years just in sort of a brick and mortar clinical practice where I oversaw a large ultrasound unit have largely dedicated my focus to the detection of prenatal disease.
So whether that's birth defects or genetic diseases and counseling patients and guiding through them in these sort of difficult situations. So, um, my experience in that world really showed me that um, as technology has advanced, um, there's a lot more that women and reproductive couples can find out uh, prior to pregnancy or even during their pregnancy. But it's very confusing and prenatal care is really filled with a lot of different aspects of caring for the pregnant individual. And a lot of times the genetic counseling piece and the options that you have some what I think doesn't get the appropriate time and attention that it that it really deserves. And I think it leaves women and reproductive couples not fully understanding what is at their disposal in terms of testing. So what I found just in my normal day to day is that I would have a patient come in and I would ask whether they did a certain type of screening modality or testing modality and pregnancy and nine times out of 10, the patient didn't know.
Um, even when they had actually ordered the test. And you know, I think, um, a lot of times Patients don't recognize that because maybe the the results were low risk and they didn't have anything to worry about. But it was somewhat of an unsettling feeling for me as a clinician that 70 tests were being potentially ordered or not ordered and the patient was really unaware of what the situation was. I can totally agree with that. And just you know, the the short time that I've been a practicing genetic counselor of patients that I meet with, that we're going over this test. They're like first off I had no idea it was even ordered. It just like oh I drew a bunch bunch of blood, I don't know exactly what it was all for. And that to me I'm like oh we need informed consent which we're going to we're going to talk about and everything. But I think that's something that we see so often that either a test is ordered without the patient's consent or a test wasn't offered to a patient. So definitely I really agree with you on that of just looking at being in the clinic right now of seeing that, right?
And and I think that most of us in this field, including you know, most of the genetic counselors that I work with would agree that that I think there's a lot of work to be done to sharing information in this space so that individuals can make decisions that are right for them. So sometimes it's not always ordering the test. Sometimes it means not ordering a test, but I think the first step is really information sharing. Yeah, I think that's that's key. And also something that you said was, you know, if a patient doesn't want to test, you know, so so they can learn about a test and say thank you for going through this. I don't want the test. I'm like, I'm so glad we talked about it. We just order it for you. Um I think that's a really important aspect there. And one of the tests that we're going to talk about is carrier screening. So for carrier screening, I feel like I'm a broken record in interviews saying this can be performed on people before they're pregnant. Um So what types of conditions are screened for in carrier screening when someone asked like, okay, well what is carrier screening? Like what conditions are going to be looked at?
What's like your elevator pitch for them of like, okay, this is what carrier screening is. So um well, I'll start by um also emphasizing that yes, it can be done before pregnancy. And in fact it's actually ideal for it to be done before pregnancy because it allows a lot more time for individuals to process results and make decisions about what they want to do. Um so carrier screening is really aimed at looking at inherited conditions, conditions that a reproductive couple could pass down to a future child. Um and our panel is quite large. So it is an expanded carrier panel of about 420 conditions. Um The vast majority of these conditions are inherited in an autism or recessive fashion. So that means that both biologic mother and biologic father um would have to carry a mutation in order to have a child with this condition. Um There are about 32 conditions on our panel that are actually X linked.
So that means a woman who has Um a mutation in one of these genes has a 50% chance of having a child with this condition. Um And I would say the vast majority of panels that you see out there are usually incorporate autism. A recess of conditions. Yeah, usually that's that's the largest number. And then the excellent is you know uh Duchenne, muscular dystrophy and fragile X. Is usually like the top two excellent conditions on there. Um And I had an experience of going through the carrier screening for this. Um And you guys call it the 23 pairs test, That's your brand name for it. Um So you know, almost like this isn't quite a counseling session but I did come back as a carrier for one condition. So out of the 400 plus conditions that were screened for, you know, those were all negative or what we consider to be low risk because it is screening. Um But I came back as a carrier for one condition. Can you share a little bit about um congenital myasthenia syndrome and if I pronounced that right? Yes.
So, um yes, so you came back a carrier for congenital Myasthenia syndrome. Um I would classify this condition as a diverse group of conditions that can be caused by mutations in different genes. And broadly speaking, it's essentially a miscommunication between nerve cells and the muscle cells. They innovate. So nerve cells generally in order for you to, let's say, lift your arm voluntarily or blink your eyes are open your mouth. Um the nerve cell has to release neurotransmitters which are sort of the chemical messengers. Um and they released that into this area called the synaptic space. And those little messengers are going attached to receptors that are on the surface or what we call the post synaptic membrane of the muscle cell. And when there are mutations in genes involved in any part of this process, you can it can lead to essentially a miscommunication of that nerve and muscle such that the manifesting symptoms can be fatigue or weakness with use.
And certainly there's a spectrum of severity in that condition. So Children who are born or babies that are born with congenital forms of Myasthenia gravis tend to have a more severe manifestation where there might be significant weakness or even contractions of the muscle because there is very little communication between the nerves and muscles. Um Now, fortunately and and this is part of our counseling when it comes to autism a recessive diseases is that there really is no health implication for you to being a carrier. That was the first thing I looked at like is there any implications. And in most of the cases it's no, but there are cases like DMG carriers that I mentioned. Duchenne muscular dystrophy. Like they could have issues of being a carrier. So yes, that is the first thing that I I looked at him like, okay, there aren't any. So I'm like, okay. So I relieved. Like that's the biggest thing for me since I'm not currently pregnant, correct? So, um, you know, we start with the good news first. So we say, you know what good news is is that you're healthy And this has no implications on your future health.
Um, but where this would be of concern is if you were planning a pregnancy in the future and if You know, bad luck were to happen that your reproductive partner were to also be a similar carrier as yourself, then you would have a one in four or 25% chance of having a child with that condition. So the ability and then sometimes we have patients who will do this before they're even planning or even they have a reproductive partner, but they will always know in the back of their mind that, okay, when I'm planning my pregnancy, I should have my reproductive partner tested, which is exactly my situation. Right. So I don't have a certain partner or sperm donor that I'm eyeing at the moment or anything, you know, not trying to get pregnant anytime soon. But I know when that time does come that, okay, let me make sure that the sperm donor or you know my partner is looked at for this condition specifically. Um and like without knowing my partner's carrier status right now, my risk is one in 10,000 of having a child with this condition.
So that's an extremely low chance. It's only that 25% chance if that person is identified as a carrier, which is a huge difference. A lot of people when I'm giving carrier screening results are nervous. They're hearing about this very serious condition, you know, just like in this case. But okay let's talk about that one in 10,000 risk that's that's very low. So not something that I'm concerned about. You know, especially at this point in my life. So I really like how you've explained that and and that a lot of these conditions are spectrum disorders just like this one where some forms of it are more severe and some are more mild, which I think we're learning in general and genetics is the case for, I don't know if I want to say most conditions, but a lot of conditions, Yes, many, especially you know, these 400 plus a lot of them um apply to that if you enjoy DNA today, especially episode 1 39 with Dani Shapiro who discovered she was donor conceived, then you'll also enjoy more shocking discoveries from DNA testing and a new podcast.
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Um you know what's your company policy and just where you stand in terms of offering that informed consent. Yeah I think that that's a good question. And so when we first started talking I mentioned sort of what inspired us to start the company. And it was really about broadening broadening access to certain technologies and pregnancy. But the underpinning of that is informed, informed decision making right? So technology and a vacuum can actually be quite harmful if you don't know what you're getting into or what it means. It can cause undue anxiety. And so even though we wanted to provide broad access to many of the reproductive genetic tests that are out there. Um we felt very strongly about having very standardized information regarding what these tests were, what they could tell you what they could not tell you. Um As well as you know how to help patients when they receive results and what the next steps are.
So it is a very simple ordering process for patients. Um they come to our website. If one of the genetic test looks appealing to them, they can click on it. Um They have the option of sort of the payment process whether it's insurance or self pay, there is a clinical intake portions so that clinical intake asks relevant questions about medical history, family history, genetic history. Um, But the most important part of that intake is really the standardized information sharing that occurs after that. So all patients have access to a reproductive genetic counselor if they Choose to do that as a genetic counseling session. Certainly, I think we all know that many folks are busy and um would perhaps like something at 10:00 in their Pajamas. And so they might rather choose our sort of our education module that they go through instead.
Um That education module is several minutes long um and goes through modes of inheritance. Um What does it mean to be born with an inherited condition? What does it mean to be a carrier? Um You know, what could you do with this information? So it's it's all the pretest counseling points that we think are important to share with patients before they embark on this test. Um After that is all done, patients are asked if okay now that you've heard about it and we've educated you about it. Do you still want to do the test? So, and if a patient says yes, then that takes them through the consent form. And the consent form largely outlines things that were already mentioned in the education module, but the patient signs and says yes, I understand what this is and I watched that video and I get it. Um So and then after that the order gets processed and I found the video to be very helpful. And it's like, you know, as I was listening and watching the video, like, okay, yes, I cover that during pre test counseling, like, you know, all really the major points that I cover with a patient were covered in the video and I'm like this, you know, in some ways, maybe it's even more engaging than watching me talk about these things because it's a video things are moving?
You know? So I think I think it's a great way and I think what we're another tool in the genetic counseling tool belt to be able to use because we don't have enough genetic counselors and M FMS like yourself that are in this space that are educated about carrier screening and the other tests that we'll talk about um to really be able to explain all this. So I think a video captures the pretest side, you know, just as well as I think, you know, in person does um you know, I think, you know, covering all the points and um it was very easy to go through and I was even surprised, I was asked like, do you have an O. B. G. Y. N. Or another medical provider you'd like results to be sent to and you know, I I clicked. No, but um you know, I can see that being very helpful like, oh yes, please send this over because I am pregnant and I want to do this earlier. Um and I know who's going to be delivering me or like whatever the case is. Um So I found that to be really helpful. Um But yeah, it's just great that you're able to provide all of this in such a streamlined fashion.
Um One question I did have around this is let's say I was pregnant and my partner ended up getting tested and was a carrier of the same condition in that case, do you have recommendations for what patients do at that point? Because if I was in person and the counselor for that patient, I would say, okay, let's talk about the next step of testing if that's something you want to do. So invasive testing like an amniocentesis or CVS. Um What what's the workflow at that point? So um there are so all of the results that get processed through Mattera are first evaluated by our clinical staff and then we determine are these results going to be sent to the patient or released to the patient? Um You know like in your case you were a simple carrier doesn't really have implications for you. It's not you don't have a reproductive partner that also tested positive. But the example that you bring up where you have a positive carrier couple um has important implications and results are not actually released at that time.
So patients are contacted to schedule a visit with a genetic counselor to talk about all those options. So we sort of transition from kind of a very virtual hands off approach to basically what you might experience if you were in an office where you have a sit down a giant counselor text you about what this means goes over the statistics um and talks about CVS and amniocentesis and what are the diagnostic tests that you could do during your pregnancy to confirm whether or not your future child could be affected by this condition for patients that and many do potentially if they find out they're positive carrier couple during a pregnancy. If they want to test the pregnancy, then we contact one of the many maternal fetal medicine offices in our directory and find an office that is close in location to the patient so that we are essentially handing the baton off to the brick and mortar office so that there is no misstep.
There is no um nothing falls through the cracks and the clinical care of this patient. Um So that's that's a lot of what where we put our emphasis and our manpower behind is really engaging and hand holding when it matters most for patients. Yeah. I think that's very important in my case. I got a notification. Okay, your results are ready and I could view them download the pdf. Um But it sounds like you know, in the case of where it's more of a um at risk situation. That's when you would have a genetic counselor Be the one informing the person. That's a really great aspect because I think if someone just received that as a pdf that would I don't know I would I would not be a fan of that. You know, I have to be honest. It's nice that you have this workflow. That things can, certain things can be automated and certain things just can't and I don't think they ever should be. Um So I think that's a really good approach to it and great that you're able to refer out to providers in their local area because tests are available in all 50 states of the US.
So you know, you're covering a lot of ground with that definitely great that that's part of it because that really is part of the counseling process. Um And that if a couple is identified as that their carrier of the same condition, um there's also options before pregnancy. So like IVF options and I'm sure you guys go through that and yes. Absolutely. So to switch gears to the other tasks, the one I didn't do. Um What information is included in the non invasive prenatal screening? So this is what you guys call the peaches and me test. Um What information can someone glean from this? So this is a cell free DNA screening modality. Also known as non invasive prenatal testing or N. I. P. T. And R. Test screens for trisomy 21 also known as Down syndrome, trisomy 18, trisomy 13 and sex chromosome abnormalities like Montessori X. Also known as Turner syndrome. Um And that is so R. I. P. T. Is very much limited to the most common chromosomal abnormalities that one would encounter during the pregnancy.
So what was the decision behind not including micro deletions on the panel because that's something that I noticed that some providers, some laboratories offer looking at what's called micro deletion. So instead of a whole chromosome extra missing, it's a tiny piece of a chromosome missing that goes with a specific condition. Um, what were part of the conversations that led to that decision? Um, so yes, a very poignant question given the controversies around micro dilution screening these days. Um, so, you know, I think the fundamental reason why we left micro solutions out is the the issues surrounding detection rates and false positives on micro dilution screening. It's not to say that a woman or a pregnant couple could should not be or um would not be concerned about a baby that could have a micro deletion. Micro delusional syndrome. Um, but I think that as a screening modality, especially with cell free DNA, it is fraught with a lot of false positives and particularly when you are trying to use a virtual platform to make screening modalities largely available and streamline it and make it very efficient.
I think there you have to be very careful to not overstep and particularly when it's not a face to face provider and your and you might cause undue anxiety with a lot of false positives. Um, it was it was it was largely a medical decision we made to leave that off. Again, I do think that there is a role for micro delusional screening, I I think that's a little bit more of a broader conversation of Well, if I'm very concerned about micro delusions, maybe maybe I'm somebody who wants to join a new synthesis. You know maybe maybe that's actually the test that is more suited for me rather than N. I. P. T. I think. Um because N. I. P. T. Is very powerful for the detection of Down syndrome. I think there is a natural tendency to assume its performance is similar for micro delusions which it's not which it's not. And so I think it is again fine to do you know it's not to say that one should never do a screening modality for a micro deletion with an N.
I. P. T. Technology but you have to be very careful that the patient understands what its limitations are. So I I think in my mind there was um too much area for confusion between micro delusions and common and employees and the performance difference that we decided not to include them And they are fairly rare conditions. The most common on that list affects one in 2000 babies for di George Syndrome. So in general you know when you're comparing it to down syndrome that's you know one in a couple of 100 depending on how old the patient is at delivery. Um Yeah it's just kind of different numbers there so I can I certainly understand the decision there and You know in January of 2022 there was the New York Times article which I'm sure you read. Um yes but you know I have I have patients still asking about it um that you know I think I have some issues with the article, you know to be frank. But um you know there were some good points in there but some areas where I'm like you should have done a little more research um or just the way they phrase things was not you know, necessarily the best.
Um But yeah it's certainly something that you know that's one difference that um providers like someone may order micro deletion in a as a health care provider for a patient. Um But not necessarily. Some people are ordering exactly the same conditions that are ordered for this test. Um So as we're talking about, you know, false positives for the micro deletions, How about for the conditions that peaches and me screens for? So um the trisomy 13 18 21 and the sex chromosomes. Um do you have any kind of ranges of numbers in terms of false positives, false negatives? So um you know I would say that the detection rate, the sensitivities and specificities for our common and employees are pretty much on par with what you see with many of the N. I. P. T. Technologies that are out there Um for down syndrome or sensitivities around 99.7%. I think the positive predictive value is about 95%. So you know positive predictive value is essentially the likelihood that you are positive result is an actual true positive.
So it's really the number of most patients care about. Um And when we look at trisomy 18, I think it's about in the high eighties, low nineties. Um Trisomy 13 which many N. I. P. T. Technologies have struggled a little bit more just due to the characteristics of that chromosome. Um it's closer to probably 70 or 65-70% in terms of its positive predictive value. So you have very similar numbers in terms of what a healthcare provider orders in general, correct, correct. Not only can patients directly order this themselves, like as I guess not even really a patient in that situation, but a client more. Um Or customer. You've also worked with organizations like hospitals and clinics to be able to help them process testing. I imagine especially places that maybe they don't have a genetic counselor. I can see where this would be very helpful. Um Along with that does Matara accept insurance because I think that's gonna, you know, if someone's like, okay I want to do this testing that might be like, you know, possibly a dealbreaker for people.
Yes. Absolutely. So yes, we absolutely allow insurance billing. In fact patients can do a prior authorization process. So you can tell us please process through my insurance first. Um Only if my deductible. Sometimes patients don't have plans that are actually very good at coverage. And so we do have a cash pay sort of pre negotiated price that is relatively reasonable within the genetic testing world. And so patients can decide, please build my insurance if my insurance rejects this or my deductible is actually higher than your cash price. Please just build me the cash price. So um there are sort of both options there to make it more flexible for patients um in regards to working with organizations. And I'll add not only is it places that don't have genetic counselors, but even those places that do, because most genetic counselors end up being very overwhelmed by the deluge of just sort of low risk, you know, normal pregnancies coming in, you know, doing options counseling.
Yes, it's it's a lot of it's a lot of patients and we don't have nearly enough providers to cover the four million births in this country a year. So um you know, we view ourselves as very complimentary to the office. So we're not here to take patients out of their care paradigm, but to really assist and be complementary to it. And so because there is so much to cover in prenatal care, particularly that first prenatal visit from taking a whole history and doing the exam and doing an ultrasound. And now that genetic testing and screening has gotten so complex, it really deserves more than two minutes and it's really hard to fit a lot of that in into a prenatal visit and on top of that you need to have staff dedicated to, okay, I'm gonna fill out the requisition, I'm gonna follow through with the insurance, I'm gonna get the result. So it's an entire workflow that we allow clinics to sort of outsource to us.
So, you know, we're not really a testing company. We don't view ourselves as a testing company were really a virtual healthcare provider that allows for really easy and efficient access to tests. So in that sense, we, you know, we we work with clinics or hospitals that want to make this widely available for their patients, but um, but they'll feel secure that it's done in a very responsible way and it's overseen medically. Yes, I think that's that's so important. And thank you for all this insight and you know, it's it's nice to be able to talk about my own field on the show because most of the time I'm talking about cancer pediatrics, you know, do you know, ophthalmology, like whatever I am talking about in genetics. So it's it's nice to, you know, come back home to prenatal sometime. Um But thank you so much dr salary for just covering all of this and, you know, providing so much great information. Um we're gonna have more information in the show notes. Um So we're gonna include hopefully a link to the video if there's a link to that so that people can check that out. Um in terms of like the informed consent and just learning more about the process.
Um and then I'm also gonna include um the front page of my own genetic testing report. So you guys can see what that looks like. Um So thank you so much dr slurry for coming on the show. It's just been a pleasure to talk about this and go through the process myself. Well thank you for having us and um it's been a pleasure speaking with you and thanks for you know, highlighting the important aspects of reproductive genetics. Don't forget to enter the giveaway for the Matara 23 pairs carrier screening kit. You can enter by searching DNA today on twitter instagram and facebook and enter there for more information about today's episode visit D. N. A. Podcast dot com. Where you can also stream all episodes of the show. We encourage your questions, comments, guest pitches and ideas, Send them all into info at D. N. A. Podcast dot com. Search DNA today on twitter instagram Youtube facebook so you can connect with us there and a favor. Please rate and review the podcast on Apple Spotify or wherever you listen. This truly helps us climb the charts and allow more genetic nerds like yourself to find the show.
DNA today is hosted and produced by myself here Deneen. Our social media lead is korean Merlino. Our video lead is Amanda Andrea lee. Thanks for listening and join us next time to discover new advances in the world of genetics. We're all made of the same character we're all made of.