Genetic Testing in Rare Epilepsy: What Families Need to Know with Gillian Prinzing & Nancy Musarra

In this episode of the KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Msara speaks with licensed genetic counselor Gillian Prinzing from Boston Children’s Hospital about genetic testing in epilepsy.

They talk through what genetic testing is, why it may be recommended, the different types of testing families may hear about, and what results like a diagnosis or a variant of uncertain significance (VUS) can mean in real life. They also discuss retesting, reanalysis, family testing, and why genetic results are meant to inform care, not define a person.

This episode is for families looking for answers, caregivers trying to better understand the process, and anyone navigating rare epilepsy and genetic diagnosis.

In this episode, we cover:

• What genetic testing is
• Why genetic testing is ordered in epilepsy
• Genome sequencing vs. exome sequencing vs. panels
• Reanalysis of older genetic results
• What a VUS result means
• Whether parents and siblings should be tested
• When genetic testing may be helpful
• Hope for the future of rare epilepsy diagnosis and care

Listen, follow, and share to help more families find support, information, and connection: https://www.kcna2epilepsy.org/