October 4, 2017 | Neeta Vora of University of North Carolina Chapel Hill is featured on this podcast from Cambridge Healthtech Institute in preparation for the 5th annual Advances in Prenatal Molecular Diagnostics conference. Topics include technical challenges and issues surrounding patient counseling, the potential for performing exome sequencing on noninvasively obtained samples, and more. Podcast
Here is a sample of the conversation that takes place:
CHI: What is the next step in exome sequencing research and implementation? What will you be working on next?
Neeta Vora: I'm really interested in figuring out how we can implement [exome sequencing] 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.