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.
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 - Inborn Errors of Immunity in Pediatric Sepsis
- Kate Kernan, UPMC - Neonatal Molecular Precision Medicine and Disease Resilience
- Lawrence Prince, Stanford - Showcase
- Martin Reese, Fabric Genomics
- Madhuri Hegde, PerkinElmer
- Paul Kruszka, GeneDx
- Russell Nofsinger, Rady Children's Inst.
