Session Abstract – PMWC 2021 Silicon Valley

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.


NICU Current State & Future of Whole Genome Sequencing
Stephane Kingsmore, Rady Children’s Institute for Genomic Medicine

Neonatal in Neurology

Neonatal in Cardiology

Neonatal in Infection Disease

Ethical & Societal Perspectives

Martin Reese, Fabric Genomics
Madhuri Hegde, PerkinElmer

 Session Chair Profile

MB, ChB, BSc, BAO, DSc, President and CEO, Rady Children’s Institute for Genomic Medicine

Dr. Stephen F. Kingsmore leads a multi-disciplinary team of scientists, physicians and researchers in pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically ill newborns. Dr. Kingsmore holds the Guinness World Record for achieving the fastest molecular diagnosis using whole genome sequencing in just 19.5 hours. He was able to accomplish this using a machine-learning process and clinical natural language processing along with other advances in automation. TIME magazine ranked his first record-breaking time among the top 10 medical breakthroughs of 2012. Up to one-third of babies admitted to neonatal intensive care units in the United States have a genetic disease and more than 20 percent of infant deaths are caused by genetic illnesses. Treatments are currently available for more than 500 genetic diseases and for about 70, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. Dr. Kingsmore’s ultimate goal is to collaborate to implement this approach in neonatal and pediatric intensive care units across the country. Before being selected to lead the Rady Children’s Institute for Genomic Medicine, Dr. Kingsmore was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has served as the President and CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging, Inc., Vice President of Research at CuraGen, Founder of GatorGen and Assistant Professor at the University of Florida’s School of Medicine. He holds a Board Certification in Internal Medicine and is a Fellow of the Royal College of Pathologists. He was named MedScape Physician of the Year in 2012 and received the 2013 Scripps Genomic Medicine Award and the 2013 ILCHUN Prize of the Korean Society for Biochemistry and Molecular Biology. Dr. Kingsmore received his MB, ChB, BAO and DSc degrees from Queen’s College University in Belfast. He trained in clinical immunology in Northern Ireland and did his residency in internal medicine and a Fellowship at Duke University Medical Center.

 Speaker Profile

Ph.D., Co-Founder, CEO, President , Fabric Genomics

Dr. Martin Reese is Co-Founder, CEO, and President at Fabric Genomics (formerly Omicia). He is a pioneer in the field of genomics and bioinformatics, and has led and co-founded various companies such as ValiGen and Neomorphic. He co-created the two machine-learning algorithms VAAST and Phevor, which are key components of Fabric Genomics’ software platform and an essential part of the bioinformatics pipelines at institutions such as Rady Children’s Institute for Genomics, Genomics England, and LabCorp. Dr. Reese speaks all over the world about algorithms for genomics, machine-learning, AI, deep phenotyping, genomic medicine, and precision medicine. He holds a Master’s Degree in Medical Informatics from the University of Heidelberg and a Ph.D. in Genetics, jointly from the University of Hohenheim and The University of California, Berkeley.

 Speaker Profile

Ph.D, PerkinElmer

Dr. Madhuri Hegde is a board-certified clinical geneticist with over 20 years of experience in the clinical diagnostics space. She currently serves as the Vice President and Chief Science Offer of Global Laboratory Services at PerkinElmer. In her current role Dr. Hegde oversees a global laboratory network that includes a headquarters in Pittsburgh, PA as well as additional laboratories in China, India and Malaysia, and Sweden. In the headquarters laboratory, she has focused on pairing decades of newborn screening experience from PerkinElmer with a complete clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Previously, Dr. Hegde served as the Executive Director of Emory Genetics Laboratory, which was one of the first laboratories to bring NGS-based tests to the clinical arena. Dr. Hegde received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed post-doctoral studies at Baylor College of Medicine.