Dr. Hegde is the SVP and Chief Scientific Officer, Global Laboratory Services, PerkinElmer and Adjunct Professor at Georgia Institute of Technology. Previously, she was the Executive Director of Emory Genetics Laboratory and Professor of Genetics and Pediatrics at Emory University. The focus of her work is the development and implementation of high-throughput omics based strategies for discovery and clinical testing. She has over 25 years’ experience in clinical diagnostics, which includes laboratory administration, regulation, management, reimbursement, and interpretation of genomic variation. She serves on scientific boards and has been invited to present her work globally. Currently, she is on the board of American Board of Genetics and Genomics Foundation (ACMGF). She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She completed post-doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics.
Omics Based Technologies in Neonatal Care
Newborn screening is public health program which has had significant impact early detection of rare diseases. Since its implementation significant technological advances have led us to genome sequencing and use of omics based technologies. This date driven presentation will demonstrate the utility of these tools in neonatal and pediatric care
Stephen Kingsmore, Rady Children’s Institute for Genomic Medicine
Kate Kernan, UPMC
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice.