Fertility 101: The Basics of Genetics and Genetic Testing

This is Infertility

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2M ago 15:36

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Guest: Jay Shaw, MS, CGC, Senior Product Manager, Fulgent Genetics Host: Dan Bulger, Progyny 

The Fertility 101 Series, because there’s no shortage of daunting terms to keep your mind running, is a quick and dirty breakdown on a specific topic with insights from a fertility expert.

Today’s episode is a deep dive into the role of genetics in fertility care and planning. We’re joined by Jay Shaw, a certified genetic counselor and Senior Product Manager at Fulgent Genetics, who walks us through the basics and beyond when it comes to genetic testing.

We start with a foundational overview, and Jay makes sure to break down the medical jargon for us. What is genetic testing? And what do terms like “carrier screening,” “single gene disorder,” and “pathogenic variant,” actually mean?

From there, Jay explains how test results can inform decisions around IVF, embryo selection, and prenatal diagnostic testing. She also walks us through options available to people and couples when carrier screening reveals shared risks, including IVF with genetic testing, sperm or egg donation, and early interventions during pregnancy or at birth.

Jay also shares how genetic testing is expanding with new tools for cancer screening, direct-to-consumer options, and exciting advancements on the horizon, including genome sequencing and the potential for AI to transform how we interpret genetic results.

Genetic testing is a crucial part of the family-building journey, protecting the health of your baby and ensuring a well-informed pregnancy. Tune in to hear all that it has to offer.

For more information, visit Progyny’s Podcast page and Progyny’s Education page for more resources. Be sure to follow us on Instagram, @ThisisInfertilityPodcast and use the #ThisisInfertility. Have a question, comment, or want to share your story? Email us at [email protected]. 

113 episodes