#004 - Neonatal Genomics in India: A Conversation with Dr. Shubha Phadke

In this episode of Incubator India, Dr. Akanksha hosts Professor Dr. Shubha Phadke, a pioneer in medical genetics, to discuss the transformative role of Whole Exome Sequencing (WES) in neonatal care. The conversation covers the fundamentals of WES, its clinical applications, the importance of accurate phenotyping, and the utilization of genetic databases for effective diagnosis. Dr. Phadke emphasizes the need for high suspicion of genetic disorders in neonates and the critical role of detailed family history and clinical information in guiding genetic testing. This conversation delves into the critical role of genetics in neonatology, emphasizing the importance of rapid whole genome sequencing for early diagnosis and management of genetic disorders in neonates. It discusses the challenges posed by variants of unknown significance, the necessity of genetic counseling in the NICU, and the ethical dilemmas surrounding genetic testing and prenatal diagnosis in the Indian context. The conversation concludes with a call to empower clinicians with genetic knowledge to enhance patient care.