2021 NBS Research Summit - Day 1

Speaker:
Stephen Kingsmore, MD, DSc - Rady Children's Institute for Genomic Medicine
President & CEO

Title:
"Newborn Screening (NBS) and Rapid Whole Genome Sequencing (rWGS) for Severe Infant Onset Genetic Diseases"

Abstract:
Over the past ten years there has been a dramatic reduction in the cost and turnaround time of diagnostic whole genome sequencing. Over the same period the analytic performance of whole genome sequencing (rWGS) has improved enormously. rWGS is increasingly being employed (and reimbursed) as a first-tier test among infants with diseases of unknown etiology in intensive care units (ICUs). In such infants – as with Recommended Uniform Screening Panel (RUSP)-driven NBS – early diagnosis and specific treatment enables significantly better outcomes than standard genetic tests. The relatively recent addition of severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) to the RUSP, both of which require molecular tests, will lead to integration of NBS and rWGS. Such integration will become more pressing in the future as effective genetic therapies for childhood-onset genetic diseases proliferate, leading to their addition to the RUSP. The pioneering story of Fitz beautifully illustrates a future in which NBS, rWGS and gene therapy lead to genetic disease cure prior to symptom onset. Integration of NBS and rWGS has the potential to expand NBS to several hundred additional genetic diseases for which effective therapies are available today.

Dr. Kingsmore's Bio:
Stephen Kingsmore, MD, DSc, was appointed as the inaugural President and CEO of the Rady Children’s Institute for Genomic Medicine in September 2015. Dr. Kingsmore received MB ChB BAO BSc and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. In March of 2015, Dr. Kingsmore surpassed his previous record in genetic sequencing by reducing the process to 26 hours which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world.

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