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Welcome to the Empowered Patient Podcast with Karen Jagoda.  This show offers a glimpse into the latest innovations in applying generative AI, novel therapeutics and vaccines, and the evolving dynamics in the medical and healthcare landscape. One focus is on how providers, pharmaceutical companies, and payers are empowering patients.  In addition, conversations often focus on how technology is empowering providers, care facilities, pharmaceutical companies, and payers to improve patient outcomes and reduce friction across the healthcare landscape.  Popular Topics Include: Virtual and digital health Use of AI, ML, and robots for clinical and administrative purposes  Value-based healthcare  Precision and stratified medicine Next-generation immuno, cell, and gene therapies Vaccines for infectious diseases and oncology Biomarkers and diagnostics Rare diseases MedTech and medical devices Clinical trials  Population health Chronic conditions l Clinician and staff burnout Smart hospitals The audience includes life science leaders, researchers, medical professionals, patient advocates, digital health entrepreneurs, patients, caregivers, healthcare solution providers, students, journalists, and investors.

Nov 3, 2025

Dr. Matt Goldstein, CEO of jscreen, focuses on the importance and power of preventive genetic testing for reproductive carrier screening and hereditary cancer screening. All genetic tests include analysis to inform specific medical management plans and provide genetic counselors to explore options. Of particular interest is testing for the gene mutations that cause Tay-Sachs disease and helping families take proactive steps to effectively eliminate the disease in future generations.

Matt explains, "So, jscreen is a nonprofit that focuses on providing access to education and high-touch support to individuals, families, and to clinicians in the area of preventive genetics and more specifically for reproductive carrier screening and hereditary cancer screening.

"These types of tests actually have been around for a really long time with the advancement in genomic technology and our knowledge generally of genetics. The capabilities we have around these panels—what we can test for and what we can do with them—have grown tremendously over the last two decades. And so, what we're offering now is completely different than what you may have been offered five or 10 years ago."

"What I will say is I think that this technology is the most powerful medical intervention that we have. Maybe second to vaccines, which we know obviously can have profound impacts on saving lives, preventive genetics, the ability to screen an individual or a couple or a family, and identify diseases that they may be at risk for, with things that you can do to prevent those diseases from happening or catch them early. That's the holy grail. That's the most amazing thing: being able to intervene." 

#jscreen #GeneticTesting #TaySachsDisease #ReproductiveCarrierScreening #HereditaryCancerScreening 

jscreen.org

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