Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.

Carmencita D Padilla,David S Millington,Charity M Jomento,J Edgar Winston C Posecion,Bradford L Therrell,Alma P Andal,Bernadette C Halili-Mendoza,Maria Paz Virginia K Otayza,Maria Truda T Dizon-Escoreal,Michelle E Abadingo,Conchita G Abarquez,Ma Elouisa L Reyes,Maria Melanie Liberty B Alcausin,Anna Lea G Elizaga,Mary Anne D Chiong,Mary Ann R Abacan,Margarita Aziza E Canlas

doi:10.3390/ijns8010008

Abstract

Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012. As screening technology and medical knowledge have advanced, NBS programs in countries with developed economies have also expanded, not only in the number of newborns screened but also in the number of conditions included in the screening. Various approaches have been taken regarding selection of conditions to be screened. With limited resources, low- and middle-income countries face significant challenges in selecting conditions for screening and in implementing sustainable screening programs. Building on expansion experiences in the U.S. and data from California on Filipinos born and screened there, the Philippine NBS program has recently completed its expansion to include 29 screening conditions. This report focuses on those conditions detectable through tandem mass spectrometry. Expanded screening was implemented in a stepwise fashion across the seven newborn screening laboratories in the Philippines. A university-based biochemical genetics laboratory provides confirmatory testing. Follow-up care for confirmed cases is monitored and provided through the NBS continuity clinics across the archipelago. Pre-COVID-19 pandemic, the coverage was 91.6% but dropped to 80.4% by the end of 2020 due to closure of borders between cities, provinces, and islands.

Highlights

Newborn bloodspot screening (NBS) is a successful public health prevention system that has evolved over the sixty years since the initial work of Guthrie in the U.S [1]
We determined that the California Newborn Screening Program (CNSP), which is organized to the Philippine NBS Program and at the time included screening for more than 70 different conditions, likely would provide sufficient Filipino NBS data to aid in evaluating other congenital conditions suitable for inclusion in the Philippine NBS Program
As policy deliberations continued regarding which conditions to add to ENBS, instrument manufacturers were contacted to provide their input into equipment availability and related subjects

Summary

Introduction

Newborn bloodspot screening (NBS) is a successful public health prevention system that has evolved over the sixty years since the initial work of Guthrie in the U.S [1]. While initially focused on a single congenital metabolic condition resulting in mental retardation, phenylketonuria (PKU), NBS includes varying numbers of additional conditions that can result in serious outcomes, including death, when not detected and treated early. The goal of NBS remains focused on diminishing morbidity and mortality and is generally acknowledged as consisting of a six-part system that includes education, screening, short-term follow-up, diagnosis, treatment/management (long-term follow-up), and evaluation [2]. Increased disease knowledge, including natural history and treatment, and improved analytical techniques have resulted in the inclusion of increasingly larger numbers of conditions on screening panels in NBS systems in countries with high-income economies and smaller numbers in lower middle-income countries (LMIC) [3]. The Newborn Screening Study Group, consisting of pediatricians and obstetricians from 24 hospitals, initiated the Philippine Newborn Screening Project (PNSP) in 1996 [4,5,6]. NBS coverage gradually expanded across the country until today, where over 7400 newborn screening facilities (NSFs), i.e., birthing centers, submit NBS screening specimens covering over 90% of all Philippine newborns [7]

Methods

Results

Conclusion