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How Advances in Prenatal Testing are Helping Screen for Underdiagnosed, Yet Relatively Common Conditions
Episode

Melissa Maisenbacher, Associate Director of Clinical Projects at Natera

How Advances in Prenatal Testing are Helping Screen for Underdiagnosed, Yet Relatively Common Conditions

In this episode, Melissa Maisenbacher, a genetic counselor and associate director of clinical projects with Natera, joins us to continue the conversation about the benefits of non-invasive prenatal testing (NIPT). 

Melissa shares details on what conditions NIPTs typically screen for, including microdeletions, such as 22q11.2 deletion syndrome (22q11.2DS). She also highlights key 22q11.2DS findings from Natera’s SMART study, the largest prospective NIPT study ever performed. Through her work with Natera, and as a board member of the International 22q Foundation, Melissa helps educate families about 22q11.2DS and connects parents to critical resources. One way she does this is through the annual 22q at the Zoo events which raise public awareness about the condition. Volunteers spread awareness at their local or regional zoo and distribute fact sheets to educate guests and zoo visitors about 22q11.2DS. 

Tune in to this episode to learn more about NIPT and 22q11.2DS from someone with first-hand experience.

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How Advances in Prenatal Testing are Helping Screen for Underdiagnosed, Yet Relatively Common Conditions

About Melissa Maisenbacher

Melissa Maisenbacher is a genetic counselor and associate director of clinical projects at Natera. She began her career in pediatrics at the Children’s Hospital of Philadelphia, where she worked with families whose children were diagnosed with genetic conditions, including 22q11.2DS. She currently serves on the board of the International 22q Foundation.

 

Natera_Melissa Maisenbacher: Audio automatically transcribed by Sonix

Natera_Melissa Maisenbacher: this mp3 audio file was automatically transcribed by Sonix with the best speech-to-text algorithms. This transcript may contain errors.

Saul Marquez:
Hey everybody, Saul Marquez here! Welcome back to the Outcomes Rocket. I am so excited to tell you who our guest is today on this series with Natera. Her name is Melissa Maisenbacher. She is a genetic counselor by training and an associate director at Natera, a leader in personalized genetic testing and diagnostics, as you well know. She began her career in pediatrics at the Children’s Hospital of Philadelphia, where she worked with families whose children were diagnosed with genetic conditions. And she currently serves on the board of the International 22Q11, which is going to be a core of what we discuss today. If you guys remember, we had an amazing podcast with Dr. Jelsema around non-invasive prenatal testing, this is going to be a continuation of that. We’re going to dive deeper with Melissa, and I’m so excited to have her here on the podcast. So, Melissa, it’s such a pleasure to have you here!

Melissa Maisenbacher:
Thanks so much for having me. I am excited to be here today.

Saul Marquez:
Yeah, no, it’s such a pleasure to have you here. And so these things are at our top of mind, not only for, for, for parents to be, but also the providers that are taking care of them. So let’s dive in. Let’s, let’s, let’s just reset here, what is NIPT? What’s it, what does it screen for?

Melissa Maisenbacher:
NIPT which stands for non-invasive prenatal testing is a screen that can look for chromosome conditions in a baby through a taking a sample of mom’s blood. Some of the common conditions that it screens for are Down’s syndrome or trisomy 21, Trisomy 13, and trisomy 18. And it also can screen for other conditions called microdeletion syndromes, which the 22q11.2 deletion syndrome is one of the more common.

Saul Marquez:
Well, these are, these are essential tests nowadays. And the, the science behind them is getting better and better with, with the work that Natera is doing and you and the team over there is doing, Melissa. Let’s get to understand this 22Q deletion syndrome. What exactly is it?

Melissa Maisenbacher:
So the 22Q deletion syndrome is a genetic condition that’s caused by a small missing piece, sometimes called a microdeletion of chromosome 22. And this is present in every cell of the body. The deletion has the potential to affect almost every system in the body and can cause a really wide range of health problems with the most commonly seen being heart conditions, immune system problems, and palate differences like a cleft palate. Other common findings can include low calcium or hypercalcemia, ear, nose and throat problems, and speech and language delays. There’s no cure for the 22Q deletion, but there are many therapies and medical interventions that are available that can help address some of these problems that I just talked about. For the 22Q deletion, like a lot of genetic conditions, the earlier the symptoms are detected and the earlier the condition is diagnosed, the more health care professionals can do to help.

Saul Marquez:
That’s really great, Melissa. And so expectant parents obviously should consider this. It helps to know some examples of how considering something like this, learning ahead of time could lead to potential therapies and treatments for the baby to help. Can you share some of that with us?

Melissa Maisenbacher:
Sure. I think it is really important for pregnant women and families to realize that they have many different options during their pregnancy for prenatal screening and testing. And all of those options are choices that should be discussed, right? So some, sometimes you could have no testing, sometimes you could have invasive diagnostic testing, and other times you can have what we’re talking about today, non-invasive prenatal screening or NIPT. I think it’s important if you are choosing to do NIPT that you consider including the 22Q deletion as one of those conditions, and some of the reasons for that are that it is relatively common. Infants and children can have really severe medical problems and it’s not reliably detectable using other methods during pregnancy like ultrasound.

Saul Marquez:
Yeah. And so I understand there was a recent study called The Smart Study specifically on 22Q11. Can you tell us about the study and some of the high-level results?

Melissa Maisenbacher:
Sure, I’d love to. So this is a study that we at Natera are very excited about, as it’s the first truly prospective study looking at NIPT. So Natera, along with investigators at 21 medical centers across the world, recently concluded this smart study, which stands for snip-based Micro Deletions and Aneuploidy Registry. The primary objective of this study was to measure the performance of snip-based NIPT for the Common Trisomioes, including Down’s syndrome and other chromosome conditions. And that also included the 22Q11.2 deletion. Over 18,000 pregnancies were included in the final analysis. In the smart study, one of the interesting findings that came about was that we just found that the incidence of the 22Q deletion was about one in 1,500 in the general population, which is on the higher end of what had previously been reported in the general population studies that had been done. So the smart study also showed an improvement in what we call positive predictive value or PPV for the 22Q deletion. This improved PPV was 53% or about one in two. And what this means for the general population is, is that it translates to a patient that receives a high-risk result for the 22Q deletion, there’s about a 50% chance that the baby has the 22Q deletion and about a 50% chance that the baby does not have the deletion. The other interesting finding was that the smart data showed that none of the cases with the 22Q deletion had ultrasound findings in the first trimester. And so this means that none of those cases would have been detected early on. And it’s only through screening like NIPT that families can know their risk early.

Saul Marquez:
Amazing. Just the numbers alone are impressive, right? And they demonstrate the dedication you guys have to finding these, these things that are so impactful to parenthood, to childhood. This is one, I understand of 23 papers already for the Panorama test, over a million patients, I’m always just, just impressed with the level of dedication you guys have for this base, certainly paving the way. So, so the role that you play on the, I mean, I’ve learned a lot, the importance of counselors in this whole process. A lot of these things could be letters and numbers that don’t mean a thing or they just confuse people. I’d love to just get your take on a counselor sake and how you’re helping parents understand specifically with this test and the 22Q11 results.

Melissa Maisenbacher:
Sure. So I think that one of the most important things is having the ability to get information to patients, but also to make that information understandable. And so by doing studies like the smart study, we’re able to generate that information. But then we really need to have genetic counselors and other health care providers that can break down that information for patients. I spend a lot of time creating educational materials like report supplements and virtual assistants and lab reports that are understandable at a patient level. And many of our genetic counselors spend a lot of time talking to patients about their test results and making sure that they understand what those test results mean and what their next best steps are. One of the really important things about NIPT is that it is a screening test and patients need to understand the difference between a screening test and a diagnostic test, and they need to understand what their risk is. And genetic counselors play a large part in making sure that those things are understood.

Saul Marquez:
I love it. Thank you for that. I wanted to highlight that and the importance of what you do there at Natera, because it makes a huge difference when you have that support. It’s one thing to have an accurate test and cloud-based AI to increase accuracy, but there’s nothing like the human touch to help you really understand that. And Melissa and the things that you do just, just grateful for, for the way you guys help families.

Melissa Maisenbacher:
Thanks. We, we really do value our motto of a patient or a family behind every sample.

Saul Marquez:
Love that, love that. So you also have extensive experience with 22Q, specifically with the foundation and working with 22Q families, can you expand on that?

Melissa Maisenbacher:
Yeah. So I’m really lucky that over the span of my career I have I’ve been involved with the 22Q deletion. So initially, early in my career, over 20 years ago, I started working as a clinical coordinator at the 22Q and Youth Center, which is at the Children’s Hospital of Philadelphia. And then I worked as a genetic counselor within that program. During this time in 2000, the International 22Q meeting was held in Philadelphia, and I got to help plan and organize this bi-annual conference. After I left Chop, I really had made close contacts with a lot of families and a lot of professionals that worked with the 22Q11.2 deletion. And so I became involved with the 22Q International Foundation to keep in touch with these families and these professionals. This is an organization that’s dedicated to supporting the needs of families and individuals affected by chromosome 22Q differences. They promote awareness, state-of-the-art clinical care, and cutting-edge research, and currently I still serve on the board of this foundation.

Saul Marquez:
That’s awesome, and it’s great to know that. The foundation exists. And folks, for, for those of you that aren’t aware of it and want to learn more about it, we’ll, we’ll link it up in the show notes so you could dive in and another avenue for you to stay educated and on top of, of these things. And so in May which is you know you’re listening to this and it’s May it is Worldwide Awareness Day, I think May 22nd. Talk to us about that, and, and there’s this thing called 20Q at the zoo.

Melissa Maisenbacher:
Yes. So 22Q in the Zoo is, is one of my favorite events that the 22Q Foundation puts on. This will be the 11th year of 22Q in the zoo as a friend-raiser that was created by the 22Q Foundation. And we call it a friend-raiser because it’s not raising funds, but it’s really focused on bringing your friends together and raising awareness about the 22Q deletion. So each year in May, volunteers spread awareness at their local or regional zoos by handing out fact sheets and educating guests and zoo visitors about the 22Q deletion. Participants wear official red 22Q at the Zoo T-shirts and ask me about 22Q buttons, and excitingly, the day is kicked off in New Zealand and it travels across the world with about 25 countries participating. And in 2019, a record, 115 cities celebrated 22Q at the Zoo.

Saul Marquez:
Amazing.

Melissa Maisenbacher:
So this year, 22Q at the Zoo is going to be on May 22nd and I’m really excited and proud that Natera is helping to sponsor 22Q in the zoo this year, and as we have said at the Foundation for a long time, we’re going to the zoo, are you? So you can find out more information about this. You should, you definitely should.

Saul Marquez:
Heck now! Now, I can’t not.

Melissa Maisenbacher:
So you can find out more information about this event on the 22Q Foundation’s website, which is 22Q.org.

Saul Marquez:
Amazing, Melissa, and folks 22Q in the zoo is happening May 22nd. Are you going? And the invites, we’ll link it up here on the podcast. You know, and Melissa, I have a question for you. So, I mean, it’s a worldwide thing. I just clicked on US and I’m looking and there’s there’s some empty spots in some of the cities. Are you guys looking for people to raise their hand and volunteer? Tell me more about that.

Melissa Maisenbacher:
We are always looking to have new volunteers. If you live in a city with a zoo, you can volunteer to help have an event for 22Q at the zoo, it doesn’t take much. And any number of people that go and wear a red T-shirt and spreading awareness to just one more person is helpful.

Saul Marquez:
Amazing. So, folks, do you have a zoo in your city? Click on the link, get involved, May 22nd, make it happen. Melissa, thank you for sharing this with us. What an incredible initiative. And kudos to Natera for, for sponsoring that amazing event for awareness. I’ve learned a lot today and certainly, I know that the listeners have too. So I appreciate all that you’ve brought to us today. What closing thought would you leave everyone with, Melissa?

Melissa Maisenbacher:
I think that knowledge is power. And so if you would like to get more information about the 22Q Deletion Syndrome, you should visit 22Q.org. And if you want more information about prenatal screening options for the 22Q deletion, you should visit Natera.com, N A T E R A.com.

Saul Marquez:
Amazing, Melissa. Thanks again for, for joining us and looking forward to staying in touch.

Melissa Maisenbacher:
Thank you.

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Things You’ll Learn

  • What NIPT is and what genetic conditions it screens for.  
  • What 22q11.2DS is, the role of NIPT to screen for this condition, and why it’s important to confirm a diagnosis before birth.
  • What role do genetic counselors play in pre and post-screening discussions with patients. 
  • Details about the annual 22q at the Zoo event and additional resources for information on 22q11.2DS.  

 

Resources