EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman

Welcome to The Genetics Podcast, where Patrick interviews Dr. Andrea Gropman, Professor of Pediatrics and Neurology at George Washington University School of Medicine and Health Sciences and Chief of Neurogenetics at Children’s National Hospital. This conversation explores Dr. Gropman's extensive expertise in genetics and how its integration into clinical settings can optimise patient outcomes. We'll also discuss the importance of interdisciplinary collaboration, regulatory and ethical considerations, and the future of genetic research. Tune in for an interesting discussion on the transformative impact of genetics on contemporary medical practice and practical clinical applications.

0:00 Introduction

1:40 Andrea’s background and how she got into the field of genetics, neuroimaging, and metabolic disorders

4:00 Insights into Andrea’s clinical practice, including the diverse families and patients she serves and her approach to clinical decision-making

6:30 How genetics and genomics have changed the diagnostic journey in the last 25 years

10:00 Insurance coverage for genetic testing as a key component of preventive and diagnostic medicine

13:00 The role of genetics and genetic research in shaping medical education and enhancing various medical specialties and subspecialties

16:00 The transformative impact on clinical care by various neuroimaging technologies, such as spectroscopy, MRIs, wearable neuroimaging devices, and more

23:50 The potential of newborn screening programs, particularly for families with a history of disease and for critically ill neonates

29:00 The onset and prevalence of diseases such as Ornithine Transcarbamylase Deficiency (OTC)

34:00 Improvements in the treatment options for genetic-based diseases

38:10 Exciting advancements in Andrea’s field and her insights on the most anticipated and groundbreaking technological innovations

41:20 Closing remarks

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