Author: Rodney Howell, M. D.
President, International Society for Newborn Screening;
University of Miami, Miller School of Medicine,
Miami, Florida, USA
Title: History of Newborn Screening Meetings In Region and Meeting Goal
Objectives of the workshop will be to introduce newborn screening infrastructure requirements, and what is required to build medical and research capacity within the newborn screening system. Various obstacles towards setting up a national program will be presented and we will explore with the participants the possibility of beginning collaboration across the region. Although newborn screening occurs across the world, only 35% of all babies born receive any type of newborn screening. Basic barriers to newborn screening are the same in every country, although there are variations in degree. Newborn screening procedures are also the same with responses to local issues. There have been efforts to address newborn screening and genetics in the Middle East and North Africa in the past with meeting convened in Morocco, Qatar and Egypt. A document from one of these meetings, the Marrakesh Declaration has been widely recognized. Morocco has continued to have a series of NBS meeting over the past 13 years, and established NBS in 2015. NBS for sickle cell disease has been supported in various Sub Saharan countries by the US NIH and other sources, notably Perkin Elmer. Newborn screening and prophylactic interventions for sickle cell disease has been shown to be cost effective in many sub Saharan African countries.
An effort will be made at this conference to increase the membership in the International Society for Neonatal Screening among the participants. This widely recognized organization focusing on neonatal screening can offer significant benefits to members, and the organization will benefit from important local input. Provisions are anticipated to make memberships available to many participants from industry sponsorship.
Keywords: NBS history in region; Barriers to NBS; NBS Organization, International Society for Neonatal Screening
Author: Bradford L. Therrell
National Newborn Screeing and Global Resource Center,
Austin, Texas 78759 USA
Title: Current Status of Newborn Screening Worldwide
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. 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. For reporting purposes, the world has been divided into five regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), and each region has been 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), and Gustavo Borrajo (Latin America). The presentation given here reviews these data and adds some updated information from programs in North America, Europe and Asia.
All conditions included in NBS must be carefully evaluated on the basis of medical and scientific evidence surrounding the natural history of the condition and the local ability to decrease morbidity and mortality through screening. Congenital hypothyroidism remains the most significant condition included in NBS programs worldwide due to its relatively high incidence (particularly in iodine deficient areas), readily available low cost treatment, and successful treatment results. NBS for sickle cell diseases is likely the most important condition for inclusion in screening programs in sub-Saharan Africa. In order to be increase sustainability, developing screening programs must continually take advantage of progress already made by others and learn from their mistakes. NBS becomes increasingly important to public health considerations as infant and neonatal mortality rates approach single digits. NBS systems require continuing evaluation and improvement. Shared commitment and information will allow for continued expansion of screening worldwide and, as a consequence, related improvement in health and life outcomes.
Keywords: newborn, screening, sickle, hypothyroidism
Author: Issam KHNEISSER
Unit Head Newbron Screening Laboratory, Saint Joseph University,
Title: MENA REGION NEWBORN SCREENING UPDATE.
The Middle East and North Africa (MENA) region cover 22 countries combined with its location between three continents, (Asia, Africa and Europe). The MENA region accounts for approximately 6% of the world’s population, 60% of the world’s oil reserves and 45% of the world’s natural gas reserves. The high rate of consanguinity in the MENA mark the region due traditions. A query had been conducted among ISNS members covering the topics, is there a National newborn screening Program, screened diseases, percentage of coverage, availability of confirmatory testing and access to follow and treatment. The results of the survey query will be presenting the current status of the MENA region. In the MENA region.
Screening reached the region in the mid 80’s, mainly for CH. We are still seeing three groups of countries: -Group 1, well established national program, Group 2, Ongoing continuous efforts towards national program Groups 3, nothing is done. During the years, countries like Saudi Arabia, Qatar and Lebanon did become regional and even international pioneer for newborn screening application by tandem mass spectrometry (KSA), homocystinuria screening (QATAR), and G6PD screening (Lebanon). Others lost their preliminary national program for CH, like Lybia, Syria, and Yemen due to instability by man-made calamities. International efforts had been focusing to improve and to organize the newborn screening in the region since 2006, the Marakech declaration. In addition to some local efforts of conducting cost-benefit analysis as a decision tool maker for health policy providers.
Keywords: Neonatal screening, arabs, tandem mass spectrometry