Pediatric Neurology

Biography

Biography: Shivendra Kishore

Abstract

Whole exome and whole genome sequencing allows to probe for multiple genetic conditions in a single step, reducing the time and cost to reach a diagnostic decision. These technologies have also entered the critical care units (including neonatal) where time to diagnosis is extremely important not only to guide treatment decisions and treatment efficacy but also to assess utility ofprocedures like surgery or transplantation. While it is not uncommon to use karyotyping, FISH, aCGH and single gene sequencing in these critical units, the emergence of NGS promises to detect both sequence variants with copy number variants within a single test, making the whole procedure significantly more effective in a clinical setting. The majority of the genetic disorders- especially autosomal recessive metabolic diseases or de novo cases- typically appear in the ICU without prior indication. Genetic testing is thus targeting a larger group of patients in the ICU where clinical features of the diseases will be more prominent than before birth or start the first time after delivery. This is particularly of importance, when one is screening for complex neuromuscular disorders or metabolic abnormalities where more than one gene can be involved. CentoICUTM offers a targeted panel based solution for early and fast diagnosis of critically ill newborns and children under 24 months. In thecurrent format, this panel screens for several hundreds of diseases in less than 4-7 days.