Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update

Preface G e n e t i c s i n t h e Tw e n t y - F i r s t Century

Michael J. Gambello, MD, PhD Editors

V. Reid Sutton, MD

Genetic disorders constitute a significant portion of admissions to neonatal intensive care units. Studies of admissions to pediatric hospitals have documented that up to 71% of admissions have an underlying disorder with a significant genetic component. Moreover, those patients with a significant genetic contribution had longer hospital stays and greater hospital charges.1 Given this high health care burden, genetics is a very important component of neonatal care. Moreover, as genetic technologies have advanced rapidly over the past decade, a much higher percentage of individuals who are evaluated for a genetic condition receive a definitive diagnosis compared with a decade ago. Studies have shown that array comparative genomic hybridization identified chromosomal abnormalities in about 12% of cases where routine chromosome studies are normal. In addition, whole-exome sequencing, which has become clinically available in the past few years, achieves a diagnosis in approximately 25% of individuals. This rate will continue to increase as gene discovery continues. This issue reviews common genetic disorders encountered in the newborn period, including well-established chromosomal disorders, single-gene syndromes, and inborn errors of metabolism, and incorporates information about new and emerging technologies and diagnoses. Michael J. Gambello, MD, PhD Department of Human Genetics and Pediatrics Emory University School of Medicine 615 Michael Street, Suite 301 Atlanta, GA 30322, USA

Clin Perinatol 42 (2015) xxi–xxii http://dx.doi.org/10.1016/j.clp.2015.04.001 perinatology.theclinics.com 0095-5108/15/$ – see front matter Ó 2015 Published by Elsevier Inc.

xxii

Preface

V. Reid Sutton, MD Department of Molecular & Human Genetics Baylor College of Medicine & Texas Children’s Hospital 6701 Fannin Street, Suite 1560 Houston, TX 77030, USA E-mail addresses: [email protected] (M.J. Gambello) [email protected] (V.R. Sutton) REFERENCE

1. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet 2004;74(1):121–7.

Genetics in the twenty-first century. Preface.

Genetics in the twenty-first century. Preface. - PDF Download Free
151KB Sizes 1 Downloads 5 Views