In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results.

Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options.

Whether you’re just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence.

Finally, don’t forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website.

Links:

JScreen Genetic Testing Instagram

Once Upon A Gene Revival