Fetal Whole Exome Sequencing and Its Potential in Prenatal Diagnosis
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Hi everyone. Welcome to this podcast from Cambridge Healthtech Institute for the Advances in Prenatal Molecular Diagnostics meeting, taking place November 28th and 29th, 2017, in Cambridge, Massachusetts. I'm Kaitlin Searfoss, Conference Producer.
We have with us today one of our speakers, Dr. Neeta Vora, an Associate Professor in the Department of Obstetrics and Gynecology in the Division of Maternal-Fetal Medicine at the University of North Carolina-Chapel Hill. Thanks for being with us today, Dr. Vora.
Absolutely. Thanks for having me.
You're speaking at the Advances in Prenatal Molecular Diagnostics meeting on prenatal exome sequencing and some of the opportunities and challenges it presents. Could you give us a quick preview of some of the areas you will be discussing?
Sure. I'm really excited about the potential for the use of exome sequencing in the prenatal realm. Currently, our ability to make a prenatal diagnosis in fetuses with abnormalities relies on karyotype and micro array and molecular testing, if we're smart enough to figure out which gene to sequence. I think that exome sequencing has potential to improve our ability to make prenatal diagnosis in fetuses with abnormalities, allowing us to provide as much information to families as possible, improve our ability to discuss recurrence risk, and then give patients options for their reproductive health.
I'm also going to be discussing some of the counseling challenges that can definitely be a big issue when it comes to exome sequencing, especially because prenatally, many people are sequencing most parents and the fetus, and so, there is potential to find medically actionable variant in genes that could cause problems for the parents. And so we have a very extensive counseling session before testing, and then again post-test counseling is important.
I'm going to be touching on some of the exciting issues about current research ongoing with exome sequencing, the performance of sequencing in pregnancies that are affected with a structural birth defect, and then also, some of the counseling challenges that we've encountered during our projects.
What is the next step in exome sequencing research and implementation? What will you be working on next?
I'm really interested in figuring out how we can implement this in clinical practice. So I'm interested in really optimizing turnaround time, and I am interested in figuring out whether the sequencing can be done noninvasively, either via cell-free DNA, or through intact fetal cells. I'm also very interested in trying to understand how parents perceive the information we provide, and how we can improve our ability to counsel so that we can give patients the most amount of understanding possible regarding this complicated test and the types of results that the test might provide, including variance of uncertain clinical significance. And I'm interested to see how parents react to that information and how we can improve our ability to give people that information.
I'm also really interested in figuring out whether we can identify genes that are critical to human development that haven't been identified yet. And so, those are kind of the key issues that I'm really trying to work on.
What are you most looking forward to seeing at the Prenatal Diagnostics meeting in November?
There's a lot of really interesting topics that I'm interested in. I think the thing that I think is most exciting is seeing where noninvasive prenatal testing is going, especially with regard to using intact fetal cells found in maternal circulation, so I'm really looking forward to the meeting.
Thank you for your time today, Dr. Vora.
That was Dr. Neeta Vora from the University of North Carolina at Chapel Hill. She'll be speaking at the Advances in Prenatal Molecular Diagnostics meeting on November 28th.
If you'd like to hear her in person, go to HealthTech.com/prenatal-diagnostics for registration information, and enter the key code "Podcast". I'm Kaitlin Searfoss, thank you for listening.