Genomics in Newborn Screening

Abstract

Newborn screening has substantially changed the genetic-metabolic world and greatly expanded the concept of preventive medicine. This expansion has been marked by two major milestones in the 50-year history of newborn screening: the first, pre-tandem mass spectrometry, included the early detection of phenylketonuria (PKU), galactosemia, homocystinuria, maple syrup urine disease, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease, and biotinidase deficiency; the second, tandem mass spectrometry-based, has seen an explosive increase in information, often instrumental for diagnosis, prevention, and appropriate management of many additional metabolic disorders including the organic acidemias and fatty acid oxidation defects not previously covered. The latter era, however, has also had its share of shortcomings and pitfalls, much of which related to inconclusive diagnosis and incomplete knowledge of natural history. 1 Fernhoff P.M. Newborn screening for genetic disorders. Pediatr Clin North Am. 2009; 56: 505-513 Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar , 2 Levy H.L. Newborn screening conditions: what we know, what we do not know, and how we will know it. Genet Med. 2010; 12: S213-S214 Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar , 3 McCabe L.L. McCabe E.R. Expanded newborn screening: implications for genomic medicine. Annu Rev Med. 2008; 59: 163-175 Crossref PubMed Scopus (36) Google Scholar Determining the precise disorder in the identified infant is critical to his/her proper clinical care and treatment as well as to providing accurate information and genetic counseling to the family.