Session Abstract – PMWC 2022 Silicon Valley


Track Chairs:
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.

Sessions:

  • PMWC 2022 Luminary Award Ceremony
    - Stephen Kingsmore, Rady Children’s Institute for Genomic Medicine
    - Martin Reese, Fabric Genomics
  • NICU Current State & Future of Whole Genome Sequencing
    - Stephen Kingsmore, Rady Children’s Institute for Genomic Medicine
  • Digital Transformation of Precision Medicine Pathways: A NICU Case Study
    - Vasu Rangadass, L7
  • Neonatal in Infection Disease
    - Kate Kernan, UPMC
  • Neonatal in Cardiology
    - Lawrence Prince, Stanford
  • Showcase
    - Martin Reese, Fabric Genomics
    - Madhuri Hegde, PerkinElmer
    - Paul Kruszka, GeneDx

 Session Chair Profile

M.D., BSc, President and CEO, Rady Children’s Institute for Genomic Medicine

Biography
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.


 Session Chair Profile

M.D., Assistant Professor, Children’s Hospital of Pittsburgh

Biography
Dr. Kernan’s research is focused on understanding how individual genetic variation contributes to critical illness susceptibility and outcomes in children with severe sepsis. Dr. Kernan’s work has shown that children with pathogenic and likely pathogenic variation in genes known to cause primary immunodeficiencies are at high risk for bacterial infections, evidence of extreme inflammation and requirements for aggressive support therapies. Additional studies of children with innate immune variants, particularly those related to complement disorders, also share unique illness characteristics typical of well described disorders of complement activation such as atypical hemolytic uremic syndrome. Dr. Kernan is an Assistant Professor of Critical Care Medicine at the Children’s Hospital of Pittsburgh of UPMC and a National Institute of Child Health and Human Development Pediatric Critical Care and Trauma Scientist Development Program K12 Scholar. She joined the Department of Critical Care Medicine in 2018 after completing her Pediatric Critical Care Medicine fellowship at UPMC Children’s Hospital of Pittsburgh. She completed residency in Pediatrics at St. Louis Children’s Hospital and graduated with an MD from the University of Pennsylvania, a Master of Fine Arts from New England College, and BA in Biology from the College of the Holy Cross.

Talk
Genetic Variation in Primary Immunodeficiency Genes in Children with Severe Pediatric Sepsis
This talk will discuss genetic variation in genes related to primary immunodeficiency and their relationship to severe pediatric sepsis in children admitted to intensive care. My research has shown that children with pathogenic and likely pathogenic variants in genes known to cause primary immunodeficiency have increased odds of bacterial illness, increased inflammation, and increased need for support with extracorporeal membrane oxygenation. In a subset of these children with genetic variation in the innate immune complement pathway, I will demonstrate evidence of genetic and phenotypic relationships to clinical characteristics and organ failure patterns. This represents an opportunity for genetically targeted therapy for critically ill children outside of the neonatal intensive care unit, an example of the possibilities of personalized medicine.


 Speaker Profile

Ph.D., President & CEO, L7 Informatics Inc.

Biography
L7 provides software and services that enable synchronized solutions for science + health. L7’s novel Enterprise Science Platform (L7|ESP) is a scientific process and data management solution that enables life science and healthcare companies to connect people, processes, and systems to accelerate discoveries and drive precision healthcare. Prior to L7 Informatics, Dr. Rangadass was the Chief Strategy Officer at NantHealth following its acquisition of Net.Orange, the company he founded to provide an enterprise-wide platform - Clinical Operating System (cOS) to simplify and optimize care delivery processes in health systems.


 Speaker Profile

M.D., Ph.D., Philip Sunshine, MD Professor in Neonatology; Professor of Pediatrics; Division Chief, Neonatal & Developmental Medicine; Co-Director, Johnson Center for Pregnancy and Newborn Services, Stanford University School of Medicine

Biography
Dr. Prince has a long and distinguished career mentoring clinical and scientific trainees and students, many of whom have gone on to establish their own successful careers as academic physician investigators. As a physician scientist, Dr. Prince leads a basic science laboratory focusing on the mechanisms regulating developmental immunology and lung injury and repair. Dr. Prince received a Bachelor of Science in Chemistry from University of Miami, an MD/PhD with a focus in Cell Biology from University of Alabama at Birmingham, and postdoctoral fellowship, Pediatrics residency, and Neonatal-Perinatal Medicine Fellowship training at the University of Iowa. Dr. Prince has worked as an Associate Professor of Pediatrics at Vanderbilt University and a Professor of Pediatrics and Chief of the Division of Neonatology at the University of California, San Diego and Rady Children’s Hospital, San Diego.


 Speaker Profile

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

Biography
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, SVP & Chief Scientific Officer, PerkinElmer

Biography
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.

Talk
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


 Speaker Profile

M.D., FACMG, Chief Medical Officer, GeneDx

Biography
Paul Kruszka is a board-certified clinical geneticist who uses genomic and precision medicine to enhance the delivery of health care to individuals with rare diseases. Prior to working at GeneDx, Dr. Kruszka spent a decade at the National Institutes of Health conducting genomic research and taking care of individuals with rare genetic diseases. Dr. Kruszka is credited with the clinical and molecular delineation of multiple novel genetic conditions. Dr. Kruszka attended medical school at the University of Michigan and completed a family medicine residency at the University of Virginia and a clinical genetics residency at the National Human Genome Research Institute at the National Institutes of Health.

Talk
High Throughput Neonatal Sequencing: The New Standard of Care
Until recently, neonatal sequencing investigations have been limited to small academic studies.  In this report we review over 1500 cases of rapid exomes and genomes in critically ill infants.  This data, which includes diagnostic rates and clinical indications lay the groundwork for future sequencing guidelines and standard of care.