|日時||2020年 2月29日（土） 17:00 - 17:50|
|座長||国立成育医療研究センター ゲノム医療研究部 要 匡 先生|
|演者||Dr. John Belmont, Senior Principal Medical Scientist, Illumina, Inc.
Professor (Adjunct), Department of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, Houston, Texas
|演題||Whole Genome Sequencing in Clinical Practice|
|要旨||The aggregate burden of rare genetic disorders in the population is very large with estimates of life-time risk of 4-8% in the general population. Often with only nonspecific clinical clues, physicians must determine whether patients are affected with one of thousands of these diseases. Newborns presentations may be critical with complex birth defects or neurological abnormalities. In the last decade genome level clinical testing has revolutionized the evaluation of patients with suspected genetic diseases. These tests, which include microarray, exome, and genome testing, can reliably detect causal abnormalities efficiently across thousands of genes. Releasing the physician from the usual requirements of differential diagnosis can greatly accelerate the resolution of individual cases.
In this presentation, I will review genome sequencing as the next step in the evolution of clinical genomic analysis. The review will cover the very wide spectrum of disease-causing abnormalities that can be detected including consideration of some cases that illustrate the how it overcomes the most challenging problems faced in complex cases. This review will also consider some of the key publications which have shown the effectiveness of genome sequencing in patient cohorts with particular emphasis on the evaluation of critically ill newborns. We will review ongoing studies aimed at evaluating not just the diagnostic yield but the clinical utility genome sequencing and describe a general effectiveness framework. We will review international efforts to standardize clinical genome sequencing and how these efforts can evolve to make it easier and safer for non-genetics specialists to initiate appropriate genomics evaluations.