AB010. Newborn screening worldwide: when and where is molecular testing a part of the screening protocol
Bradford Therrell
Background: Newborn bloodspot screening (NBS) describes various tests that can occur during the first few hours or days of a newborn’s life and have the potential for preventing severe health problems, including death. NBS has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. Molecular testing using dried blood spot specimens was first demonstrated as a viable 2nd-tier NBS technique for both sickle cell diseases and cystic fibrosis in the 1980s. Since that time, use of molecular tests has slowly expanded in NBS programs until now it is a routine part of many screening programs including as a primary screening method for severe combined immunodeficiency disease (SCID).
Objective: This presentation seeks to: (I) provide an overview of NBS activities worldwide; (II) review the origins of molecular testing as part of NBS; and (III) increase awareness of molecular testing activities in NBS today.
Methods: A series of reports described various NBS activities around the world in 2007. These reports were updated in 2015 and this presentation reviews the NBS system and the ongoing activities reported with an eye towards molecular testing. For 2015 reporting purposes, the world was divided into five regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), and each region was reviewed by NBS experts active in the region. Experts and co-authors of this report include: Brad Therrell and John Adams (North America), Carmencita Padilla (Asia-Pacific), Gerard Loeber (Europe), Issam Kneisser and Amal Saadallah, Middle East/North Africa, Gustavo Borrajo (Latin America).
Results and conclusions: NBS for one or more conditions now covers about one-third of the world’s newborns. In more developed programs, molecular testing protocols are included either as 2nd-tier (cystic fibrosis and sickle cell diseases) or primary screening (SCID). Future expansion of NBS will likely include molecular testing protocols.
Keywords: Newborn screening; worldwide screening; molecular methods; screening review; SCID
