|Podcasts|November 15, 2021

Next Generation Carrier Screening for Genetic Diseases

Speaker 1 (00:00):

Welcome to the Contemporary OB/GYN podcast series, brought to you by Quest Diagnostics. Now, here's your host for this podcast, Scott Kober.

Scott Kober (00:11):

Thank you and welcome to this podcast. My name is Scott Kober with Contemporary OB/GYN. Today, we'll be talking about next-generation carrier screening for genetic diseases. I'm happy to be joined today by Jim Warren, a genetic counselor at Quest Diagnostics, to talk about some of the key issues for practicing OB/GYN to be mindful of. Welcome, Jim, and thank you so much for joining me today.

Jim Waurin (00:36):

Thanks for having me.

Scott Kober (00:37):

Jim, why is carrier screening important for pregnant couples or couples trying to get pregnant?

Jim Waurin (00:43):

The OB/GYN in laboratory communities have been performing carrier screening since healthcare providers started screening the African-American population for sickle cell disease and the Ashkenazi Jewish population for Tay-Sachs disease way back in the 1970s. Once we found the gene for cystic fibrosis, or CF, in the late '90s, we started screening for CF in the European population as well. The reason that carrier screening was initially offered for those diseases was twofold.

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